Author: "Konstantino, Monica" - Searchworks@Jio Institute Digital Library Search Results

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1. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Author: Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Konstantino, Monica, Leach, Meganne E., McCormick, David, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.
Published: 2024
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2. Expansion of NEUROD2 phenotypes to include developmental delay without seizures

Author: Mis, Emily K, Sega, Annalisa G, Signer, Rebecca H, Cartwright, Tracy, Ji, Weizhen, Martinez‐Agosto, Julian A, Nelson, Stanley F, Palmer, Christina GS, Lee, Hane, Mitzelfelt, Thomas, Konstantino, Monica, Network, Undiagnosed Diseases, Jeffries, Lauren, Khokha, Mustafa K, Marco, Elysa, Martin, Martin G, and Lakhani, Saquib A
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Neurodegenerative, Pediatric, Neurosciences, Epilepsy, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adolescent, Animals, Basic Helix-Loop-Helix Transcription Factors, Brain, Child, Developmental Disabilities, Disease Models, Animal, Female, Heterozygote, Humans, Larva, Male, Neuropeptides, Phenotype, Seizures, Xenopus laevis, developmental delay, Neurod2, seizure, Undiagnosed Diseases Network, Clinical Sciences, Clinical sciences
Abstract: De novo heterozygous variants in the brain-specific transcription factor Neuronal Differentiation Factor 2 (NEUROD2) have been recently associated with early-onset epileptic encephalopathy and developmental delay. Here, we report an adolescent with developmental delay without seizures who was found to have a novel de novo heterozygous NEUROD2 missense variant, p.(Leu163Pro). Functional testing using an in vivo assay of neuronal differentiation in Xenopus laevis tadpoles demonstrated that the patient variant of NEUROD2 displays minimal protein activity, strongly suggesting a loss of function effect. In contrast, a second rare NEUROD2 variant, p.(Ala235Thr), identified in an adolescent with developmental delay but lacking parental studies for inheritance, showed normal in vivo NEUROD2 activity. We thus provide clinical, genetic, and functional evidence that NEUROD2 variants can lead to developmental delay without accompanying early-onset seizures, and demonstrate how functional testing can complement genetic data when determining variant pathogenicity.
Published: 2021

3. Early-Life Outcomes in Relation to Social Determinants of Health for Children Born Extremely Preterm

Author: Jobe, Alan H., Caplan, Michael S., Polin, Richard A., Laptook, Abbot R., Keszler, Martin, Hensman, Angelita M., Alksninis, Barbara, Bishop, Carmena, Burke, Robert T., Caskey, Melinda, Hoffman, Laurie, Johnson, Katharine, Keszler, Mary Lenore, Knoll, Andrea M., Lamberson, Vita, Leach, Teresa M., Little, Emilee, McGowan, Elisabeth C., Stephens, Bonnie E., Vieira, Elisa, St. Pierre, Lucille, Ventura, Suzy, Watson, Victoria E., Hibbs, Anna Maria, Walsh, Michele C., Wilson-Costello, Deanne E., Newman, Nancy S., Bhola, Monika, Payne, Allison H., Siner, Bonnie S., Yalcinkaya, Gulgun, Truog, William E., Pallotto, Eugenia K., Kilbride, Howard W., Gauldin, Cheri, Holmes, Anne, Johnson, Kathy, Scott, Allison, Parimi, Prabhu S., Gaetano, Lisa, Poindexter, Brenda B., Schibler, Kurt, Kallapur, Suhas G., Donovan, Edward F., Merhar, Stephanie, Grisby, Cathy, Yolton, Kimberly, Alexander, Barbara, Beiersdorfer, Traci, Bridges, Kate, Cahill, Tanya E., Dudley, Juanita, Fischer, Estelle E., Gratton, Teresa L., Hayes, Devan, Hessling, Jody, Jackson, Lenora D., Kirker, Kristin, Mincey, Holly L., Muthig, Greg, Stacey, Sara, Steichen, Jean J., Tepe, Stacey, Thompson, Julia, Wuertz, Sandra, Cotten, C. Michael, Goldberg, Ronald N., Goldstein, Ricki F., Malcolm, William F., Mago-Shah, Deesha, Ashley, Patricia L., Finkle, Joanne, Auten, Kathy J., Fisher, Kimberley A., Grimes, Sandra, Gustafson, Kathryn E., Lohmeyer, Melody B., Laughon, Matthew M., Bose, Carl L., Bernhardt, Janice, Bose, Gennie, Clark, Cindy, Talbert, Jennifer, Warner, Diane, Trembath, Andrea, O'Shea, T. Michael, Wereszczak, Janice, Kicklighter, Stephen D., Rhodes-Ryan, Ginger, White, Donna, Patel, Ravi M., Carlton, David P., Stoll, Barbara J., Hale, Ellen C., Loggins, Yvonne C., Adams-Chapman, Ira, Blackwelder, Ann, Bottcher, Diane I., Carter, Sheena L., Kendrick-Allwood, Salathiel, Laursen, Judith, LaRossa, Maureen Mulligan, Mackie, Colleen, Sanders, Amy, Seabrook, Irma, Smikle, Gloria, Wineski, Lynn C., Higgins, Rosemary D., Bremer, Andrew A., Archer, Stephanie Wilson, Sokol, Gregory M., Dusick, Anna M., Papile, Lu Ann, Gunn, Susan, Hamer, Faithe, Harmon, Heidi M., Herron, Dianne E., Hines, Abbey C., Lytle, Carolyn, Miller, Lucy C., Minnich, Heike M., Richard, Leslie, Smiley, Lucy, Wilson, Leslie Dawn, Tyson, Jon E., Kennedy, Kathleen A., Khan, Amir M., Duncan, Andrea, Mosquera, Ricardo, Stephens, Emily K., McDavid, Georgia E., Alaniz, Nora I., Allain, Elizabeth, Arldt-McAlister, Julie, Burson, Katrina, Dempsey, Allison G., Eason, Elizabeth, Evans, Patricia W., Garcia, Carmen, Green, Charles, Hall, Donna, Harris, Beverly Foley, Jiminez, Margarita, John, Janice, Jones, Patrick M., Lillie, M. Layne, Lis, Anna E., Martin, Karen, Martin, Sara C., Mason, Carrie M., McKee, Shannon, Morris, Brenda H., Rennie, Kimberly, Rodgers, Shawna, Siddiki, Saba Khan, Simmons, Maegan C., Sperry, Daniel, Pierce Tate, Patti L., Wright, Sharon L., Sánchez, Pablo J., Nelin, Leif D., Jadcherla, Sudarshan R., Slaughter, Jonathan L., Yeates, Keith O., Keim, Sarah, Maitre, Nathalie L., Timan, Christopher J., Luzader, Patricia, Clark, Erna, Fortney, Christine A., Gutentag, Julie, Park, Courtney, Shadd, Julie, Sullivan, Margaret, Stein, Melanie, Nelin, Mary Ann, Newton, Julia, Small, Kristi, Burkhardt, Stephanie, Purnell, Jessica, Pietruszewski, Lindsay, Levengood, Katelyn, Batterson, Nancy, Morehead, Pamela, Carey, Helen, Yoseff-Salameh, Lina, Sullivan, Rox Ann, Hague, Cole, Grothause, Jennifer, Fearns, Erin, Fowler, Aubrey, Notestine, Jennifer, Tonneman, Jill, Hay, Krystal, Chao, Michelle, Warnimont, Kyrstin, Marzec, Laura, Miller, Bethany, Beckford, Demi R., Baugher, Hallie, DeSantis, Brittany, Hanlon, Cory, McCool, Jacqueline, Das, Abhik, Gantz, Marie G., Bann, Carla M., Wallace, Dennis, Crawford, Margaret M., Gabrio, Jenna, Leblond, David, Newman, Jamie E., Petrie Huitema, Carolyn M., O'Donnell Auman, Jeanette, Poole, W. Kenneth, Zaterka-Baxter, Kristin M., Van Meurs, Krisa P., Chock, Valerie Y., Stevenson, David K., Adams, Marian M., Ball, M. Bethany, Bentley, Barbara, Bruno, Elizabeth, Davis, Alexis S., Elena DeAnda, Maria, DeBattista, Anne M., Huffman, Lynne C., Ismael, Magdy, Kohn, Jean G., Krueger, Casey, Lowe, Janice, Lucash, Ryan E., Palmquist, Andrew W., Patel, Jessica, Proud, Melinda S., Reichert, Elizabeth N., John, Nicholas H. St., Sivakumar, Dharshi, Taylor, Heather L., Wager, Natalie, Williams, R. Jordan, Weiss, Hali, Frantz, Ivan D., III, Fiascone, John M., MacKinnon, Brenda L., Furey, Anne, Nylen, Ellen, Church, Paige T., Sibley, Cecelia E., Brussa, Ana K., Carlo, Waldemar A., Ambalavanan, Namasivayam, Peralta-Carcelen, Myriam, Nelson, Kathleen G., Bailey, Kirstin J., Biasini, Fred J., Chopko, Stephanie A., Collins, Monica V., Cosby, Shirley S., Johnston, Kristen C., Moses, Mary Beth, Patterson, Cryshelle S., Phillips, Vivien A., Preskitt, Julie, Rector, Richard V., Whitley, Sally, Devaskar, Uday, Garg, Meena, Purdy, Isabell B., Chanlaw, Teresa, Geller, Rachel, Finer, Neil N., Vaucher, Yvonne E., Kaegi, David, Rasmussen, Maynard R., Arnell, Kathy, Demetrio, Clarence, Fuller, Martha G., Rich, Wade, Bell, Edward F., Colaizy, Tarah T., Widness, John A., Brumbaugh, Jane E., Acarregui, Michael J., Johnson, Karen J., Eastman, Diane L., Goeke, Claire A., Schmelzel, Mendi L., Walker, Jacky R., Baack, Michelle L., Hogden, Laurie A., Broadbent, Megan, Elenkiwich, Chelsey, Henning, Megan M., Van Muyden, Sarah, Ellsbury, Dan L., Campbell, Donia B., Tud, Tracy L., Duara, Shahnaz, Bauer, Charles R., Everett-Thomas, Ruth, Fajardo-Hiriart, Sylvia, Rigaud, Arielle, Calejo, Maria, Frade Eguaras, Silvia M., Berkowits, Michelle Harwood, Garcia, Andrea, Pierre, Helina, Stoerger, Alexandra, Watterberg, Kristi L., Fuller, Janell, Ohls, Robin K., Beauman, Sandra Sundquist, Lacy, Conra Backstrom, Duncan, Andrea F., Hanson, Mary, Hartenberger, Carol, Kuan, Elizabeth, Lowe, Jean R., Thomson, Rebecca A., DeMauro, Sara B., Eichenwald, Eric C., Schmidt, Barbara, Kirpalani, Haresh, Chaudhary, Aasma S., Abbasi, Soraya, Mancini, Toni, Catts, Christine, Cook, Noah, Cucinotta, Dara M., Bernbaum, Judy C., Gerdes, Marsha, Ghavam, Sarvin, Hurt, Hallam, Snyder, Jonathan, Vangala, Saritha, Ziolkowski, Kristina, D'Angio, Carl T., Phelps, Dale L., Guillet, Ronnie, Myers, Gary J., Andrews-Hartley, Michelle, Johnson, Julie Babish, Binion, Kyle, Bowman, Melissa, Boylin, Elizabeth, Burnell, Erica, Coleman, Kelly R., Fallone, Cait, Farooq, Osman, Hunn, Julianne, Hust, Diane, Jensen, Rosemary L., Jones, Rachel, Kachelmeyer, Jennifer, Kushner, Emily, Maffett, Deanna, McKee, Kimberly G., Merzbach, Joan, Orme, Constance, Prinzing, Diane, Reubens, Linda J., Rochez, Daisy, Rowan, Mary, Sabaratnam, Premini, Scorsone, Ann Marie, Wadkins, Holly I.M., Yost, Kelley, Zwetsch, Lauren, Lakshminrusimha, Satyan, Reynolds, Anne Marie, Sacilowski, Michael G., Guilford, Stephanie, Li, Emily, Williams, Ashley, Zorn, William A., Wyckoff, Myra H., Brion, Luc P., Salhab, Walid A., Rosenfeld, Charles R., Heyne, Roy J., Vasil, Diana M., Adams, Sally S., Chen, Lijun, De Leon, Maria M., Eubanks, Francis, Guzman, Alicia, Hensley, Gaynelle, Heyne, Elizabeth T., Lee, Lizette E., Leps, Melissa H., Madden, Linda A., McDougald, E. Rebecca, Miller, Nancy A., Morgan, Janet S., Pavageau, Lara, Sepulveda, Pollieanna, Tolentino-Plata, Kristine, Boatman, Cathy Twell, Vera, Azucena, Waterbury, Jillian, Yoder, Bradley A., Baserga, Mariana, Faix, Roger G., Winter, Sarah, Minton, Stephen D., Sheffield, Mark J., Rau, Carrie A., Baker, Shawna, Bird, Karie, Burnett, Jill, Christensen, Susan, Cole-Bledsoe, Laura, Davis, Brandy, Elmont, Jennifer O., Jensen, Jennifer J., Loertscher, Manndi C., Jordan, Jamie, Marchant, Trisha, Maxson, Earl, McGrath, Kandace M., Osborne, Karen A., Parry, D. Melody, Reich, Brixen A., Schaefer, Susan T., Spencer, Cynthia, Steffen, Michael, Tice, Katherine, Weaver-Lewis, Kimberlee, Woodbury, Kathryn D., Zanetti, Karen, Dillard, Robert G., Washburn, Lisa K., Jackson, Barbara G., Peters, Nancy, Chiu, Korinne, Allred, Deborah Evans, Goldstein, Donald J., Halfond, Raquel, Peterson, Carroll, Waldrep, Ellen L., Welch, Cherrie D., Morris, Melissa Whalen, Hounshell, Gail Wiley, Shankaran, Seetha, Sood, Beena G., Natarajan, Girija, Pappas, Athina, Abramczyk, Katherine, Agarwal, Prashant, Bajaj, Monika, Bara, Rebecca, Billian, Elizabeth, Chawla, Sanjay, Childs, Kirsten, De Jesus, Lilia C., Driscoll, Debra, February, Melissa, Goldston, Laura A., Johnson, Mary E., Muran, Geraldine, Panaitescu, Bogdan, Prentiss, Jeannette E., White, Diane, Woldt, Eunice, Barks, John, Wiggins, Stephanie A., Christensen, Mary K., Carlson, Martha D., Ehrenkranz, Richard A., Jacobs, Harris, Butler, Christine G., Cervone, Patricia, Greisman, Sheila, Konstantino, Monica, Poulsen, JoAnn, Taft, Janet, Williams, Joanne, Romano, Elaine, Vohr, Betty R., Travers, Colm P., and Hintz, Susan R.
Published: 2023
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4. Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)

Author: Brooks, Joel P., Rice, Andrew J., Ji, Weizhen, Lanahan, Stephen M., Konstantino, Monica, Dara, Jasmeen, Hershfield, Michael S., Cruickshank, Amy, Dokmeci, Elif, Lakhani, Saquib, and Lucas, Carrie L.
Published: 2021
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5. Behavior Profiles at 2 Years for Children Born Extremely Preterm with Bronchopulmonary Dysplasia

Author: Caplan, Michael S., Polin, Richard A., Laptook, Abbot R., Keszler, Martin, Hensman, Angelita M., Vieira, Elisa, Little, Emilee, Burke, Robert T., Stephens, Bonnie E., Alksninis, Barbara, Bishop, Carmena, Keszler, Mary L., Leach, Teresa M., Watson, Victoria E., Knoll, Andrea M., Walsh, Michele C., Fanaroff, Avroy A., Newman, Nancy S., Wilson-Costello, Deanne E., Payne, Allison, Bhola, Monika, Yalcinkaya, Gulgun, Siner, Bonnie S., Friedman, Harriet G., Roth, Elizabeth, Truog, William E., Pallotto, Eugenia K., Kilbride, Howard W., Gauldin, Cheri, Holmes, Anne, Johnson, Kathy, Knutson, Allison, Schibler, Kurt, Poindexter, Brenda B., Merhar, Stephanie, Yolton, Kimberly, Gratton, Teresa L., Grisby, Cathy, Kirker, Kristin, Wuertz, Sandra, Carlton, David P., Adams-Chapman, Ira, Hale, Ellen C., Loggins, Yvonne C., Bottcher, Diane I., Mackie, Colleen, Carter, Sheena L., LaRossa, Maureen Mulligan, Wineski, Lynn C., Smikle, Gloria V., Leon-Hernandez, Angela, Kendrick-Allwood, Salathiel, Cotten, C. Michael, Goldberg, Ronald N., Goldstein, Ricki F., Malcolm, William F., Ashley, Patricia L., Finkle, Joanne, Fisher, Kimberley A., Grimes, Sandra, Gustafson, Kathryn E., Laughon, Matthew M., Bose, Carl L., Bernhardt, Janice, Bose, Gennie, Warner, Diane, Wereszczak, Janice, Kicklighter, Stephen D., Rhodes-Ryan, Ginger, Higgins, Rosemary D., Wilson Archer, Stephanie, Sokol, Gregory M., Papile, Lu Ann, Hines, Abbey C., Herron, Dianne E., Gunn, Susan, Smiley, Lucy, Kennedy, Kathleen A., Tyson, Jon E., Arldt-McAlister, Julie, Burson, Katrina, Dempsey, Allison G., Evans, Patricia W., Garcia, Carmen, Jiminez, Margarita, John, Janice, Jones, Patrick M., Lillie, M. Layne, Martin, Karen, Martin, Sara C., McDavid, Georgia E., Rodgers, Shawna, Siddiki, Saba Khan, Sperry, Daniel, Pierce Tate, Patti L., Wright, Sharon L., Sánchez, Pablo J., Nelin, Leif D., Jadcherla, Sudarshan R., Luzader, Patricia, Fortney, Christine A., Besner, Gail E., Parikh, Nehal A., Wallace, Dennis, Gantz, Marie G., Newman, Jamie E., Auman, Jeanette O'Donnell, Crawford, Margaret, Gabrio, Jenna, Leblond, David, Petrie Huitema, Carolyn M., Zaterka-Baxter, Kristin M., Van Meurs, Krisa P., Chock, Valerie Y., Stevenson, David K., Adams, Marian M., Ball, M. Bethany, Bentley, Barbara, DeAnda, Maria Elena, Debattista, Anne M., Earhart, Beth, Huffman, Lynne C., Ismael, Magdy, Krueger, Casey E., Palmquist, Andrew W., Proud, Melinda S., Reichert, Elizabeth N., Sankar, Meera N., St. John, Nicholas H., Taylor, Heather L., Weiss, Hali E., Frantz, Ivan D., III, Fiascone, John M., MacKinnon, Brenda L., Nylen, Ellen, Furey, Anne, Sibley, Cecelia E., Brussa, Ana K., Carlo, Waldemar A., Ambalavanan, Namasivayam, Bailey, Kirstin J., Biasini, Fred J., Collins, Monica V., Cosby, Shirley S., Phillips, Vivien A., Rector, Richard V., Whitley, Sally, Devaskar, Uday, Garg, Meena, Purdy, Isabell B., Chanlaw, Teresa, Geller, Rachel, Finer, Neil N., Vaucher, Yvonne E., Kaegi, David, Rasmussen, Maynard R., Arnell, Kathy, Demetrio, Clarence, Fuller, Martha G., Rich, Wade, West, Radmila, Baack, Michelle L., Ellsbury, Dan L., Hogden, Laurie A., Klein, Jonathan M., Dagle, John M., Johnson, Karen J., Tud, Tracy L., Elenkiwich, Chelsey, Henning, Megan M., Broadbent, Megan, Schmelzel, Mendi L., Walker, Jacky R., Goeke, Claire A., Watterberg, Kristi L., Ohls, Robin K., Backstrom Lacy, Conra, Brown, Sandra, Fuller, Janell, Hartenberger, Carol, Lowe, Jean R., Sundquist Beauman, Sandra, Hanson, Mary Ruffner, Dupont, Tara, Kuan, Elizabeth, Schmidt, Barbara, Kirpalani, Haresh, Chaudhary, Aasma S., Abbasi, Soraya, Mancini, Toni, Cucinotta, Dara M., Bernbaum, Judy C., Gerdes, Marsha, Hurt, Hallam, D'Angio, Carl T., Guillet, Ronnie, Myers, Gary J., Lakshminrusimha, Satyan, Reynolds, Anne Marie, Hartley-McAndrew, Michelle E., Wadkins, Holly I.M., Sacilowski, Michael G., Reubens, Linda J., Jensen, Rosemary L., Merzbach, Joan, Zorn, William, Farooq, Osman, Maffett, Deanna, Williams, Ashley, Hunn, Julianne, Guilford, Stephanie, Yost, Kelley, Rowan, Mary, Prinzing, Diane M., Wynn, Karen, Fallone, Cait, Scorsone, Ann Marie, Wyckoff, Myra H., Brion, Luc P., Heyne, Roy J., Vasil, Diana M., Adams, Sally S., Chen, Lijun, De Leon, Maria M., Eubanks, Frances, Guzman, Alicia, Heyne, Elizabeth T., Madden, Linda A., Miller, Nancy A., Lee, Lizette E., Pavageau, Lara, Sepulveda, Pollieanna, Boatman, Cathy Twell, Faix, Roger G., Yoder, Bradley A., Baserga, Mariana, Osborne, Karen A., Baker, Shawna, Bird, Karie, Burnett, Jill, Christensen, Susan, Davis, Brandy, Elmont, Jennifer O., Jensen, Jennifer J., Loertscher, Manndi C., Marchant, Trisha, Maxson, Earl, Minton, Stephen D., Parry, D. Melody, Rau, Carrie A., Schaefer, Susan T., Sheffield, Mark J., Spencer, Cynthia, Steffen, Mike, Weaver-Lewis, Kimberlee, Winter, Sarah, Woodbury, Kathryn D., Zanetti, Karen, Shankaran, Seetha, Chawla, Sanjay, Sood, Beena G., Pappas, Athina, Natarajan, Girija, Bajaj, Monika, Bara, Rebecca, Johnson, Mary E., Goldston, Laura, Wiggins, Stephanie A., Christensen, Mary K., Carlson, Martha, Barks, John, White, Diane F., Ehrenkranz, Richard A., Jacobs, Harris, Butler, Christine G., Cervone, Patricia, Greisman, Sheila, Konstantino, Monica, Poulsen, JoAnn, Taft, Janet, Romano, Elaine, Brumbaugh, Jane E., Bell, Edward F., Grey, Scott F., DeMauro, Sara B., Vohr, Betty R., Harmon, Heidi M., Bann, Carla M., Rysavy, Matthew A., Logan, J. Wells, Colaizy, Tarah T., Peralta-Carcelen, Myriam A., McGowan, Elisabeth C., Duncan, Andrea F., Stoll, Barbara J., Das, Abhik, and Hintz, Susan R.
Published: 2020
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6. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability

Author: O’Brien, Matthew P., primary, Pryzhkova, Marina V., additional, Lake, Evelyn M. R., additional, Mandino, Francesca, additional, Shen, Xilin, additional, Karnik, Ruchika, additional, Atkins, Alisa, additional, Xu, Michelle J., additional, Ji, Weizhen, additional, Konstantino, Monica, additional, Brueckner, Martina, additional, Ment, Laura R., additional, Khokha, Mustafa K., additional, and Jordan, Philip W., additional
Published: 2023
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7. Developmental Outcomes of Extremely Preterm Infants with a Need for Child Protective Services Supervision

Author: Polin, Richard A., Laptook, Abbott R., Keszler, Martin, Hensman, Angelita M., Alksninis, Barbara, Basso, Kristin M., Burke, Robert, Caskey, Melinda, Johnson, Katharine, Keszler, Mary Lenore, Knoll, Andrea M., Leach, Theresa M., Little, Emilee, McGowan, Elisabeth C., Vieira, Elisa, Watson, Victoria E., Ventura, Suzy, Walsh, Michele C., Fanaroff, Avroy A., Hibbs, Anna Marie, Wilson-Costello, Deanne E., Newman, Nancy S., Payne, Allison H., Siner, Bonnie S., Bhola, Monika, Yalcinkaya, Gulgun, Friedman, Harriet G., Truog, William E., Pallotto, Eugenia K., Kilbride, Howard W., Gauldin, Cheri, Holmes, Anne, Johnson, Kathy, Knutson, Allison, Schibler, Kurt, Donovan, Edward F., Grisby, Cathy, Bridges, Kate, Alexander, Barbara, Fischer, Estelle E., Mincey, Holly L., Hessling, Jody, Gratton, Teresa L., Jackson, Lenora, Kirker, Kristin, Muthig, Greg, Steichen, Jean J., Tepe, Stacey, Yolton, Kimberly, Goldberg, Ronald N., Cotten, C. Michael, Goldstein, Ricki F., Ashley, Patricia L., Malcolm, William F., Auten, Kathy J., Fisher, Kimberley A., Grimes, Sandra, Gustafson, Kathryn E., Lohmeyer, Melody B., Finkle, Joanne, Laughon, Matthew M., Bose, Carl L., Bernhardt, Janice, Bose, Gennie, Clark, Cindy, Manor, Linda, Warner, Diane, Wereszczak, Janice, Carlton, David P., Stoll, Barbara J., Adams-Chapman, Ira, Hale, Ellen C., Loggins, Yvonne, Archer, Stephanie Wilson, Sokol, Gregory M., Poindexter, Brenda B., Dusick, Anna M., Papile, Lu-Ann, Gunn, Susan, Hamer, Faithe, Herron, Dianne E., Hines, Abbey C., Lytle, Carolyn, Minnich, Heike M., Smiley, Lucy, Wilson, Leslie Dawn, Sanchez, Pablo J., Nelin, Leif D., Jadcherla, Sudarshan R., Luzader, Patricia, Fortney, Christine A., Besner, Gail E., Parikh, Nehal A., Das, Abhik, Wallace, Dennis, Gantz, Marie G., Poole, W. Kenneth, Newman, Jamie E., O'Donnell Auman, Jeanette, Crawford, Margaret M., Petrie Huitema, Carolyn M., Zaterka-Baxter, Kristin M., Van Meurs, Krisa P., Stevenson, David K., Hintz, Susan R., Ball, M. Bethany, Davis, Alexis S., Palmquist, Andrew W., Proud, Melinda S., Bentley, Barbara, Bruno, Elizabeth, DeAnda, Maria Elena, DeBattista, Anne M., Earhart, Beth, Huffman, Lynne C., Kohn, Jean G., Krueger, Casey, Weiss, Hali E., Frantz, Ivan D., III, Fiascone, John M., MacKinnon, Brenda L., Furey, Anne, Nylen, Ellen, Carlo, Waldemar A., Ambalavanan, Namasivayam, Peralta-Carcelen, Myriam, Collins, Monica V., Cosby, Shirley S., Biasini, Fred J., Johnston, Kristen C., Nelson, Kathleen G., Patterson, Cryshelle S., Phillips, Vivien A., Whitley, Sally, Devaskar, Uday, Garg, Meena, Purdy, Isabell B., Chanlaw, Teresa, Geller, Rachel, Finer, Neil N., Vaucher, Yvonne E., Kaegi, David, Rasmussen, Maynard R., Arnell, Kathy, Demetrio, Clarence, Fuller, Martha G., Rich, Wade, Bell, Edward F., Colaizy, Tarah T., Acarregui, Michael J., Ellsbury, Dan L., Widness, John A., Johnson, Karen J., Campbell, Donia B., Eastman, Diane L., Walker, Jacky R., Brumbaugh, Jane E., Duara, Shahnaz, Bauer, Charles R., Everett-Thomas, Ruth, Fajardo-Hiriart, Sylvia, Rigaud, Arielle, Calejo, Maria, Frade Eguaras, Silvia M., Berkowits, Michelle Harwood, Garcia, Andrea, Pierre, Helina, Stoerger, Alexandra, Watterberg, Kristi L., Lowe, Jean R., Fuller, Janell F., Ohls, Robin K., Lacy, Conra Backstrom, Duncan, Andrea F., Montman, Rebecca, Schmidt, Barbara, Kirpalani, Haresh, DeMauro, Sara B., Chaudhary, Aasma S., Abbasi, Soraya, Mancini, Toni, Cucinotta, Dara M., Bernbaum, Judy C., Gerdes, Marsha, Hurt, Hallam, D'Angio, Carl T., Phelps, Dale L., Guillet, Ronnie, Lakshminrusimha, Satyan, Johnson, Julie Babish, Reubens, Linda J., Horihan, Cassandra A., Hust, Diane, Jensen, Rosemary L., Kushner, Emily, Merzbach, Joan, Myers, Gary J., Rowan, Mary, Wadkins, Holly I.M., Bowman, Melissa, Hunn, Julianne, Guilford, Stephanie, Maffett, Deanna, Osman, Farooq, Prinzing, Diane, Reynolds, Anne Marie, Sacilowski, Michael G., Williams, Ashley, Wynn, Karen, Yost, Kelley, Zorn, William, Zwetsch, Lauren, Kennedy, Kathleen A., Tyson, Jon E., McDavid, Georgia E., Alaniz, Nora I., Arldt-McAlister, Julie, Burson, Katrina, Evans, Patricia W., Garcia, Carmen, Green, Charles, Harris, Beverly Foley, Jiminez, Margarita, John, Janice, Jones, Patrick M., Lillie, Layne M., Lis, Anna E., Martin, Karen, Martin, Sara C., Morris, Brenda H., Poundstone, M. Layne, Robichaux, Peggy, Rodgers, Shawna, Siddiki, Saba, Simmons, Maegan C., Sperry, Daniel, Pierce Tate, Patti L., Wright, Sharon L., Wyckoff, Myra H., Brion, Luc P., Heyne, Roy J., Salhab, Walid A., Rosenfeld, Charles R., Vasil, Diana M., Chen, Lijun, Guzman, Alicia, Hensley, Gaynelle, Leps, Melissa H., Miller, Nancy A., Morgan, Janet S., Adams, Sally S., Boatman, Catherine Twell, Heyne, Elizabeth T., Madden, Linda A., Torres, Lizette E., Faix, Roger G., Yoder, Bradley A., Osborne, Karen A., Spencer, Cynthia, Weaver-Lewis, Kimberlee, Baker, Shawna, Bird, Karie, Burnett, Jill, Steffen, Michael, Jensen, Jennifer J., Winter, Sarah, Zanetti, Karen, O'Shea, T. Michael, Dillard, Robert G., Washburn, Lisa K., Jackson, Barbara G., Peters, Nancy, Chiu, Korinne, Allred, Deborah Evans, Goldstein, Donald J., Halfond, Raquel, Peterson, Carroll, Waldrep, Ellen L., Welch, Cherrie D., Morris, Melissa Whalen, Hounshell, Gail Wiley, Shankaran, Seetha, Pappas, Athina, Barks, John, Bara, Rebecca, Goldston, Laura A., Natarajan, Girija, Christensen, Mary, Wiggins, Stephanie A., White, Diane, Ehrenkranz, Richard A., Jacobs, Harris, Butler, Christine G., Cervone, Patricia, Greisman, Sheila, Konstantino, Monica, Poulsen, JoAnn, Taft, Janet, Williams, Joanne, Romano, Elaine, Laptook, Abbot. R., Lowe, Jean, Chowdhury, Dhuly, Higgins, Rosemary D., and Vohr, Betty R.
Published: 2019
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8. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death

Author: Penque, Brent A., Su, Leila, Wang, Jianghai, Ji, Weizhen, Bale, Allen, Luh, Frank, Fulbright, Robert K., Sarmast, Uzair, Sega, Annalisa G., Konstantino, Monica, Spencer-Manzon, Michele, Pierce, Richard, Yen, Yun, and Lakhani, Saquib A.
Published: 2019
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9. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases

Author: Jeffries, Lauren, Olivieri, Jordan E., Ji, Weizhen, Spencer-Manzon, Michele, Bale, Allen, Konstantino, Monica, and Lakhani, Saquib A.
Published: 2019
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10. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Author: Jeffries, Lauren, primary, Mis, Emily K., additional, McWalter, Kirsty, additional, Donkervoort, Sandra, additional, Brodsky, Nina N., additional, Carpier, Jean-Marie, additional, Ji, Weizhen, additional, Ionita, Cristian, additional, Roy, Bhaskar, additional, Morrow, Jon S., additional, Darbinyan, Armine, additional, Iyer, Krishna, additional, Aul, Ritu B., additional, Banka, Siddharth, additional, Chao, Katherine R., additional, Cobbold, Laura, additional, Cohen, Stacey, additional, Custodio, Helena M., additional, Drummond-Borg, Margaret, additional, Elmslie, Frances, additional, Finanger, Erika, additional, Hainline, Bryan E., additional, Helbig, Ingo, additional, Hewson, Stacy, additional, Hu, Ying, additional, Jackson, Adam, additional, Josifova, Dragana, additional, Konstantino, Monica, additional, Leach, Meganne E., additional, Mak, Bryan, additional, McCormick, David, additional, McGee, Elisabeth, additional, Nelson, Stanley, additional, Nguyen, Joanne, additional, Nugent, Kimberly, additional, Ortega, Lucy, additional, Goodkin, Howard P., additional, Roeder, Elizabeth, additional, Roy, Sani, additional, Sapp, Katie, additional, Saade, Dimah, additional, Sisodiya, Sanjay M., additional, Stals, Karen, additional, Towner, Shelley, additional, Wilson, William, additional, Khokha, Mustafa K., additional, Bönnemann, Carsten G., additional, Lucas, Carrie L., additional, Lakhani, Saquib A., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Agrawal, Pankaj B., additional, Alejandro, Mercedes E., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D'Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Deardorff, Matthew, additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Falk, Marni, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Findley, Laurie C., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Glass, Ian, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldman, Alica M., additional, Goldstein, David B., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Gutierrez, Irma, additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Johnston, Jean M., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kennedy, Jennifer, additional, Kiley, Dana, additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C Christopher, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Christine V Malicdan, May, additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Mefford, Heather, additional, Merritt, J Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nakano-Okuno, Mariko, additional, Nath, Avi, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Rao, Deepak A., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Scott, C Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solem, Emily, additional, Solnica-Krezel, Lilianna, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Tucker, Brianna M., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-Kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Wener, Mark, additional, Wenger, Tara, additional, Perry, Katherine Wesseling, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, Ambrose, J.C., additional, Arumugam, P., additional, Baple, E.L., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, FurióTarí, P., additional, Hackett, J.M., additional, Halai, D., additional, Hamblin, A., additional, Henderson, S., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Ibáñez, K., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, MaleadyCrowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Riesgo-Ferreiro, P., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Sultana, R., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, and Witkowska, K., additional
Published: 2023
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11. Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age

Author: Jobe, Alan H., Caplan, Michael S., Polin, Richard A., Keszler, Martin, Oh, William, Vohr, Betty R., Hensman, Angelita M., Alksninis, Barbara, Basso, Kristin M., Burke, Robert, Caskey, Melinda, Johnson, Katharine, Keszler, Mary Lenore, Knoll, Andrea M., Leach, Theresa M., Little, Emilee, McGowan, Elisabeth C., Vieira, Elisa, Watson, Victoria E., Ventura, Suzy, Walsh, Michele C., Fanaroff, Avroy A., Hibbs, Anna Marie, Wilson-Costello, Deanne E., Newman, Nancy S., Payne, Allison H., Siner, Bonnie S., Bhola, Monika, Yalcinkaya, Gulgun, Friedman, Harriet G., Truog, William E., Pallotto, Eugenia K., Kilbride, Howard W., Gauldin, Cheri, Holmes, Anne, Johnson, Kathy, Knutson, Allison, Schibler, Kurt, Donovan, Edward F., Grisby, Cathy, Bridges, Kate, Alexander, Barbara, Fischer, Estelle E., Mincey, Holly L., Hessling, Jody, Gratton, Teresa L., Jackson, Lenora, Kirker, Kristin, Muthig, Greg, Steichen, Jean J., Tepe, Stacey, Mersmann, Marcia Worley, Yolton, Kimberly, Goldberg, Ronald N., Cotten, C. Michael, Goldstein, Ricki F., Ashley, Patricia L., Malcolm, William F., Auten, Kathy J., Fisher, Kimberley A., Grimes, Sandra, Gustafson, Kathryn E., Lohmeyer, Melody B., Finkle, Joanne, Laughon, Matthew M., Bose, Carl L., Bernhardt, Janice, Bose, Gennie, Warner, Diane, Wereszczak, Janice, Carlton, David P., Adams-Chapman, Ira, Hale, Ellen C., Loggins, Yvonne, Blackwelder, Ann M., Bottcher, Diane I., Mackie, Colleen, Higgins, Rosemary D., Archer, Stephanie Wilson, Sokol, Gregory M., Poindexter, Brenda B., Lemons, James A., Dusick, Anna M., Papile, Lu-Ann, Lytle, Carolyn, Hines, Abbey C., Minnich, Heike M., Herron, Dianne E., Smiley, Lucy, Gunn, Susan, Wilson, Leslie Dawn, Kennedy, Kathleen A., Tyson, Jon E., McDavid, Georgia E., Akpa, Esther G., Arldt-McAlister, Julie, Alaniz, Nora I., Burson, Katrina, Bradt, Pamela J., Dieterich, Susan, Dempsey, Allison, Duncan, Andrea F., Evans, Patricia W., Franco, Claudia I., Garcia, Carmen, Green, Charles, Harris, Beverly Foley, Jiminez, Margarita, John, Janice, Jones, Patrick M., Lillie, Layne M., Lis, Anna E., Major-Kincade, Terri, Martin, Karen, Martin, Sara C., Morris, Brenda H., Orekoya, Patricia Ann, Reddoch, Stacey, Rodgers, Shawna, Siddiki, Saba, Simmons, Maegan C., Sperry, Daniel, Tate, Patti L. Pierce, Whitely, Laura L., Wright, Sharon L., Nelin, Leif D., Jadcherla, Sudarshan R., Luzader, Patricia, Fortney, Christine A., Besner, Gail E., Parikh, Nehal A., Wallace, Dennis, Gantz, Marie G., Poole, W. Kenneth, Crawford, Margaret M., Gabrio, Jenna, Hastings, Betty K., Newman, Jamie E., O'Donnell Auman, Jeanette, Huitema, Carolyn M. Petrie, Zaterka-Baxter, Kristin M., Stevenson, David K., Ball, M. Bethany, Adams, Marian M., Davis, Alexis S., Palmquist, Andrew W., Proud, Melinda S., Bentley, Barbara, Bruno, Elizabeth, DeAnda, Maria Elena, DeBattista, Anne M., Earhart, Beth, Huffman, Lynne C., Kohn, Jean G., Krueger, Casey, Weiss, Hali E., Frantz, Ivan D., III, Fiascone, John M., MacKinnon, Brenda L., Furey, Anne, Nylen, Ellen, Peralta-Carcelen, Myriam, Collins, Monica V., Cosby, Shirley S., Biasini, Fred J., Johnston, Kristen C., Nelson, Kathleen G., Patterson, Cryshelle S., Phillips, Vivien A., Whitley, Sally, Devaskar, Uday, Garg, Meena, Purdy, Isabell B., Chanlaw, Teresa, Geller, Rachel, Finer, Neil N., Kaegi, David, Rasmussen, Maynard R., Wozniak, Paul R., Arnell, Kathy, Demetrio, Clarence, Fuller, Martha G., Henderson, Chris, Rich, Wade, Vaucher, Yvonne E., Colaizy, Tarah T., Acarregui, Michael J., Brumbaugh, Jane E., Ellsbury, Dan L., Widness, John A., Johnson, Karen J., Campbell, Donia B., Eastman, Diane L., Krutzfield, Nancy J., Duara, Shahnaz, Bauer, Charles R., Everett-Thomas, Ruth, Fajardo-Hiriart, Sylvia, Rigaud, Arielle, Calejo, Maria, Eguaras, Silvia M. Frade, Berkowits, Michelle Harwood, Garcia, Andrea, Pierre, Helina, Stoerger, Alexandra, Watterberg, Kristi L., Lowe, Jean R., Dupont, Tara, Fuller, Janell F., Ohls, Robin K., Lacy, Conra Backstrom, Montman, Rebecca, Schmidt, Barbara, Kirpalani, Haresh, DeMauro, Sara B., Chaudhary, Aasma S., Abbasi, Soraya, Mancini, Toni, Cucinotta, Dara M., Bernbaum, Judy C., Gerdes, Marsha, Hurt, Hallam, Cook, Noah, D'Angio, Carl T., Phelps, Dale L., Guillet, Ronnie, Lakshminrusimha, Satyan, Johnson, Julie Babish, Burnell, Erica, Reubens, Linda J., Horihan, Cassandra A., Jensen, Rosemary L., Kushner, Emily, Merzbach, Joan, Myers, Gary J., Rowan, Mary, Wadkins, Holly I.M., Scorsone, Anne Marie, Bowman, Melissa, Hunn, Julianne, Guilford, Stephanie, Maffett, Deanna, Farooq, Osman, Prinzing, Diane, Reynolds, Anne Marie, Sacilowski, Michael G., Williams, Ashley, Wynn, Karen, Yost, Kelley, Zorn, William, Zwetsch, Lauren, Brion, Luc P., Broyles, R. Sue, Heyne, Roy J., Ipson, Merle, Salhab, Walid A., Rosenfeld, Charles R., Vasil, Diana M., Chen, Lijun, Guzman, Alicia, Hensley, Gaynelle, Hickman, Jackie F., Leps, Melissa H., Madison, Susie, Miller, Nancy A., Morgan, Janet S., Pavageau, Lara, Adams, Sally S., Dooley, Cristin, Heyne, Elizabeth T., Lee, Lizette E., Madden, Linda A., Boatman, Catherine Twell, Faix, Roger G., Yoder, Bradley A., Osborne, Karen A., Spencer, Cynthia, Weaver-Lewis, Kimberlee, Baker, Shawna, Bird, Karie, Burnett, Jill, Steffen, Michael, Jensen, Jennifer J., Winter, Sarah, Zanetti, Karen, O'Shea, T. Michael, Dillard, Robert G., Washburn, Lisa K., Jackson, Barbara G., Peters, Nancy J., Chiu, Korinne, Allred, Deborah Evans, Goldstein, Donald J., Halfond, Raquel, Peterson, Carroll, Waldrep, Ellen L., Welch, Cherrie D., Morris, Melissa Whalen, Hounshell, Gail Wiley, Pappas, Athina, Bara, Rebecca, Goldston, Laura A., Muran, Geraldine, Natarajan, Girija, Christensen, Mary, Wiggins, Stephanie A., White, Diane, Ehrenkranz, Richard A., Jacobs, Harris, Butler, Christine G., Cervone, Patricia, Gettner, Patricia, Greisman, Sheila, Konstantino, Monica, Poulsen, JoAnn, Romano, Elaine, Taft, Janet, Williams, Joanne, Sarkar, Subrata, Shankaran, Seetha, Barks, John, Do, Barbara T., Laptook, Abbot R., Das, Abhik, Ambalavanan, Namasivayam, Van Meurs, Krisa P., Bell, Edward F., Sanchez, Pablo J., Hintz, Susan R., Wyckoff, Myra H., Stoll, Barbara J., and Carlo, Waldemar A.
Published: 2018
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12. Early-Life Outcomes in Relation to Social Determinants of Health for Children Born Extremely Preterm

Author: Brumbaugh, Jane E., primary, Vohr, Betty R., additional, Bell, Edward F., additional, Bann, Carla M., additional, Travers, Colm P., additional, McGowan, Elisabeth C., additional, Harmon, Heidi M., additional, Carlo, Waldemar A., additional, Duncan, Andrea F., additional, Hintz, Susan R., additional, Jobe, Alan H., additional, Caplan, Michael S., additional, Polin, Richard A., additional, Laptook, Abbot R., additional, Keszler, Martin, additional, Hensman, Angelita M., additional, Alksninis, Barbara, additional, Bishop, Carmena, additional, Burke, Robert T., additional, Caskey, Melinda, additional, Hoffman, Laurie, additional, Johnson, Katharine, additional, Keszler, Mary Lenore, additional, Knoll, Andrea M., additional, Lamberson, Vita, additional, Leach, Teresa M., additional, Little, Emilee, additional, Stephens, Bonnie E., additional, Vieira, Elisa, additional, St. Pierre, Lucille, additional, Ventura, Suzy, additional, Watson, Victoria E., additional, Hibbs, Anna Maria, additional, Walsh, Michele C., additional, Wilson-Costello, Deanne E., additional, Newman, Nancy S., additional, Bhola, Monika, additional, Payne, Allison H., additional, Siner, Bonnie S., additional, Yalcinkaya, Gulgun, additional, Truog, William E., additional, Pallotto, Eugenia K., additional, Kilbride, Howard W., additional, Gauldin, Cheri, additional, Holmes, Anne, additional, Johnson, Kathy, additional, Scott, Allison, additional, Parimi, Prabhu S., additional, Gaetano, Lisa, additional, Poindexter, Brenda B., additional, Schibler, Kurt, additional, Kallapur, Suhas G., additional, Donovan, Edward F., additional, Merhar, Stephanie, additional, Grisby, Cathy, additional, Yolton, Kimberly, additional, Alexander, Barbara, additional, Beiersdorfer, Traci, additional, Bridges, Kate, additional, Cahill, Tanya E., additional, Dudley, Juanita, additional, Fischer, Estelle E., additional, Gratton, Teresa L., additional, Hayes, Devan, additional, Hessling, Jody, additional, Jackson, Lenora D., additional, Kirker, Kristin, additional, Mincey, Holly L., additional, Muthig, Greg, additional, Stacey, Sara, additional, Steichen, Jean J., additional, Tepe, Stacey, additional, Thompson, Julia, additional, Wuertz, Sandra, additional, Cotten, C. Michael, additional, Goldberg, Ronald N., additional, Goldstein, Ricki F., additional, Malcolm, William F., additional, Mago-Shah, Deesha, additional, Ashley, Patricia L., additional, Finkle, Joanne, additional, Auten, Kathy J., additional, Fisher, Kimberley A., additional, Grimes, Sandra, additional, Gustafson, Kathryn E., additional, Lohmeyer, Melody B., additional, Laughon, Matthew M., additional, Bose, Carl L., additional, Bernhardt, Janice, additional, Bose, Gennie, additional, Clark, Cindy, additional, Talbert, Jennifer, additional, Warner, Diane, additional, Trembath, Andrea, additional, O'Shea, T. Michael, additional, Wereszczak, Janice, additional, Kicklighter, Stephen D., additional, Rhodes-Ryan, Ginger, additional, White, Donna, additional, Patel, Ravi M., additional, Carlton, David P., additional, Stoll, Barbara J., additional, Hale, Ellen C., additional, Loggins, Yvonne C., additional, Adams-Chapman, Ira, additional, Blackwelder, Ann, additional, Bottcher, Diane I., additional, Carter, Sheena L., additional, Kendrick-Allwood, Salathiel, additional, Laursen, Judith, additional, LaRossa, Maureen Mulligan, additional, Mackie, Colleen, additional, Sanders, Amy, additional, Seabrook, Irma, additional, Smikle, Gloria, additional, Wineski, Lynn C., additional, Higgins, Rosemary D., additional, Bremer, Andrew A., additional, Archer, Stephanie Wilson, additional, Sokol, Gregory M., additional, Dusick, Anna M., additional, Papile, Lu Ann, additional, Gunn, Susan, additional, Hamer, Faithe, additional, Herron, Dianne E., additional, Hines, Abbey C., additional, Lytle, Carolyn, additional, Miller, Lucy C., additional, Minnich, Heike M., additional, Richard, Leslie, additional, Smiley, Lucy, additional, Wilson, Leslie Dawn, additional, Tyson, Jon E., additional, Kennedy, Kathleen A., additional, Khan, Amir M., additional, Duncan, Andrea, additional, Mosquera, Ricardo, additional, Stephens, Emily K., additional, McDavid, Georgia E., additional, Alaniz, Nora I., additional, Allain, Elizabeth, additional, Arldt-McAlister, Julie, additional, Burson, Katrina, additional, Dempsey, Allison G., additional, Eason, Elizabeth, additional, Evans, Patricia W., additional, Garcia, Carmen, additional, Green, Charles, additional, Hall, Donna, additional, Harris, Beverly Foley, additional, Jiminez, Margarita, additional, John, Janice, additional, Jones, Patrick M., additional, Lillie, M. Layne, additional, Lis, Anna E., additional, Martin, Karen, additional, Martin, Sara C., additional, Mason, Carrie M., additional, McKee, Shannon, additional, Morris, Brenda H., additional, Rennie, Kimberly, additional, Rodgers, Shawna, additional, Siddiki, Saba Khan, additional, Simmons, Maegan C., additional, Sperry, Daniel, additional, Pierce Tate, Patti L., additional, Wright, Sharon L., additional, Sánchez, Pablo J., additional, Nelin, Leif D., additional, Jadcherla, Sudarshan R., additional, Slaughter, Jonathan L., additional, Yeates, Keith O., additional, Keim, Sarah, additional, Maitre, Nathalie L., additional, Timan, Christopher J., additional, Luzader, Patricia, additional, Clark, Erna, additional, Fortney, Christine A., additional, Gutentag, Julie, additional, Park, Courtney, additional, Shadd, Julie, additional, Sullivan, Margaret, additional, Stein, Melanie, additional, Nelin, Mary Ann, additional, Newton, Julia, additional, Small, Kristi, additional, Burkhardt, Stephanie, additional, Purnell, Jessica, additional, Pietruszewski, Lindsay, additional, Levengood, Katelyn, additional, Batterson, Nancy, additional, Morehead, Pamela, additional, Carey, Helen, additional, Yoseff-Salameh, Lina, additional, Sullivan, Rox Ann, additional, Hague, Cole, additional, Grothause, Jennifer, additional, Fearns, Erin, additional, Fowler, Aubrey, additional, Notestine, Jennifer, additional, Tonneman, Jill, additional, Hay, Krystal, additional, Chao, Michelle, additional, Warnimont, Kyrstin, additional, Marzec, Laura, additional, Miller, Bethany, additional, Beckford, Demi R., additional, Baugher, Hallie, additional, DeSantis, Brittany, additional, Hanlon, Cory, additional, McCool, Jacqueline, additional, Das, Abhik, additional, Gantz, Marie G., additional, Wallace, Dennis, additional, Crawford, Margaret M., additional, Gabrio, Jenna, additional, Leblond, David, additional, Newman, Jamie E., additional, Petrie Huitema, Carolyn M., additional, O'Donnell Auman, Jeanette, additional, Poole, W. Kenneth, additional, Zaterka-Baxter, Kristin M., additional, Van Meurs, Krisa P., additional, Chock, Valerie Y., additional, Stevenson, David K., additional, Adams, Marian M., additional, Ball, M. Bethany, additional, Bentley, Barbara, additional, Bruno, Elizabeth, additional, Davis, Alexis S., additional, Elena DeAnda, Maria, additional, DeBattista, Anne M., additional, Huffman, Lynne C., additional, Ismael, Magdy, additional, Kohn, Jean G., additional, Krueger, Casey, additional, Lowe, Janice, additional, Lucash, Ryan E., additional, Palmquist, Andrew W., additional, Patel, Jessica, additional, Proud, Melinda S., additional, Reichert, Elizabeth N., additional, John, Nicholas H. St., additional, Sivakumar, Dharshi, additional, Taylor, Heather L., additional, Wager, Natalie, additional, Williams, R. Jordan, additional, Weiss, Hali, additional, Frantz, Ivan D., additional, Fiascone, John M., additional, MacKinnon, Brenda L., additional, Furey, Anne, additional, Nylen, Ellen, additional, Church, Paige T., additional, Sibley, Cecelia E., additional, Brussa, Ana K., additional, Ambalavanan, Namasivayam, additional, Peralta-Carcelen, Myriam, additional, Nelson, Kathleen G., additional, Bailey, Kirstin J., additional, Biasini, Fred J., additional, Chopko, Stephanie A., additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Johnston, Kristen C., additional, Moses, Mary Beth, additional, Patterson, Cryshelle S., additional, Phillips, Vivien A., additional, Preskitt, Julie, additional, Rector, Richard V., additional, Whitley, Sally, additional, Devaskar, Uday, additional, Garg, Meena, additional, Purdy, Isabell B., additional, Chanlaw, Teresa, additional, Geller, Rachel, additional, Finer, Neil N., additional, Vaucher, Yvonne E., additional, Kaegi, David, additional, Rasmussen, Maynard R., additional, Arnell, Kathy, additional, Demetrio, Clarence, additional, Fuller, Martha G., additional, Rich, Wade, additional, Colaizy, Tarah T., additional, Widness, John A., additional, Brumbaugh, Jane E., additional, Acarregui, Michael J., additional, Johnson, Karen J., additional, Eastman, Diane L., additional, Goeke, Claire A., additional, Schmelzel, Mendi L., additional, Walker, Jacky R., additional, Baack, Michelle L., additional, Hogden, Laurie A., additional, Broadbent, Megan, additional, Elenkiwich, Chelsey, additional, Henning, Megan M., additional, Van Muyden, Sarah, additional, Ellsbury, Dan L., additional, Campbell, Donia B., additional, Tud, Tracy L., additional, Duara, Shahnaz, additional, Bauer, Charles R., additional, Everett-Thomas, Ruth, additional, Fajardo-Hiriart, Sylvia, additional, Rigaud, Arielle, additional, Calejo, Maria, additional, Frade Eguaras, Silvia M., additional, Berkowits, Michelle Harwood, additional, Garcia, Andrea, additional, Pierre, Helina, additional, Stoerger, Alexandra, additional, Watterberg, Kristi L., additional, Fuller, Janell, additional, Ohls, Robin K., additional, Beauman, Sandra Sundquist, additional, Lacy, Conra Backstrom, additional, Hanson, Mary, additional, Hartenberger, Carol, additional, Kuan, Elizabeth, additional, Lowe, Jean R., additional, Thomson, Rebecca A., additional, DeMauro, Sara B., additional, Eichenwald, Eric C., additional, Schmidt, Barbara, additional, Kirpalani, Haresh, additional, Chaudhary, Aasma S., additional, Abbasi, Soraya, additional, Mancini, Toni, additional, Catts, Christine, additional, Cook, Noah, additional, Cucinotta, Dara M., additional, Bernbaum, Judy C., additional, Gerdes, Marsha, additional, Ghavam, Sarvin, additional, Hurt, Hallam, additional, Snyder, Jonathan, additional, Vangala, Saritha, additional, Ziolkowski, Kristina, additional, D'Angio, Carl T., additional, Phelps, Dale L., additional, Guillet, Ronnie, additional, Myers, Gary J., additional, Andrews-Hartley, Michelle, additional, Johnson, Julie Babish, additional, Binion, Kyle, additional, Bowman, Melissa, additional, Boylin, Elizabeth, additional, Burnell, Erica, additional, Coleman, Kelly R., additional, Fallone, Cait, additional, Farooq, Osman, additional, Hunn, Julianne, additional, Hust, Diane, additional, Jensen, Rosemary L., additional, Jones, Rachel, additional, Kachelmeyer, Jennifer, additional, Kushner, Emily, additional, Maffett, Deanna, additional, McKee, Kimberly G., additional, Merzbach, Joan, additional, Orme, Constance, additional, Prinzing, Diane, additional, Reubens, Linda J., additional, Rochez, Daisy, additional, Rowan, Mary, additional, Sabaratnam, Premini, additional, Scorsone, Ann Marie, additional, Wadkins, Holly I.M., additional, Yost, Kelley, additional, Zwetsch, Lauren, additional, Lakshminrusimha, Satyan, additional, Reynolds, Anne Marie, additional, Sacilowski, Michael G., additional, Guilford, Stephanie, additional, Li, Emily, additional, Williams, Ashley, additional, Zorn, William A., additional, Wyckoff, Myra H., additional, Brion, Luc P., additional, Salhab, Walid A., additional, Rosenfeld, Charles R., additional, Heyne, Roy J., additional, Vasil, Diana M., additional, Adams, Sally S., additional, Chen, Lijun, additional, De Leon, Maria M., additional, Eubanks, Francis, additional, Guzman, Alicia, additional, Hensley, Gaynelle, additional, Heyne, Elizabeth T., additional, Lee, Lizette E., additional, Leps, Melissa H., additional, Madden, Linda A., additional, McDougald, E. Rebecca, additional, Miller, Nancy A., additional, Morgan, Janet S., additional, Pavageau, Lara, additional, Sepulveda, Pollieanna, additional, Tolentino-Plata, Kristine, additional, Boatman, Cathy Twell, additional, Vera, Azucena, additional, Waterbury, Jillian, additional, Yoder, Bradley A., additional, Baserga, Mariana, additional, Faix, Roger G., additional, Winter, Sarah, additional, Minton, Stephen D., additional, Sheffield, Mark J., additional, Rau, Carrie A., additional, Baker, Shawna, additional, Bird, Karie, additional, Burnett, Jill, additional, Christensen, Susan, additional, Cole-Bledsoe, Laura, additional, Davis, Brandy, additional, Elmont, Jennifer O., additional, Jensen, Jennifer J., additional, Loertscher, Manndi C., additional, Jordan, Jamie, additional, Marchant, Trisha, additional, Maxson, Earl, additional, McGrath, Kandace M., additional, Osborne, Karen A., additional, Parry, D. Melody, additional, Reich, Brixen A., additional, Schaefer, Susan T., additional, Spencer, Cynthia, additional, Steffen, Michael, additional, Tice, Katherine, additional, Weaver-Lewis, Kimberlee, additional, Woodbury, Kathryn D., additional, Zanetti, Karen, additional, Dillard, Robert G., additional, Washburn, Lisa K., additional, Jackson, Barbara G., additional, Peters, Nancy, additional, Chiu, Korinne, additional, Allred, Deborah Evans, additional, Goldstein, Donald J., additional, Halfond, Raquel, additional, Peterson, Carroll, additional, Waldrep, Ellen L., additional, Welch, Cherrie D., additional, Morris, Melissa Whalen, additional, Hounshell, Gail Wiley, additional, Shankaran, Seetha, additional, Sood, Beena G., additional, Natarajan, Girija, additional, Pappas, Athina, additional, Abramczyk, Katherine, additional, Agarwal, Prashant, additional, Bajaj, Monika, additional, Bara, Rebecca, additional, Billian, Elizabeth, additional, Chawla, Sanjay, additional, Childs, Kirsten, additional, De Jesus, Lilia C., additional, Driscoll, Debra, additional, February, Melissa, additional, Goldston, Laura A., additional, Johnson, Mary E., additional, Muran, Geraldine, additional, Panaitescu, Bogdan, additional, Prentiss, Jeannette E., additional, White, Diane, additional, Woldt, Eunice, additional, Barks, John, additional, Wiggins, Stephanie A., additional, Christensen, Mary K., additional, Carlson, Martha D., additional, Ehrenkranz, Richard A., additional, Jacobs, Harris, additional, Butler, Christine G., additional, Cervone, Patricia, additional, Greisman, Sheila, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, Taft, Janet, additional, Williams, Joanne, additional, and Romano, Elaine, additional
Published: 2023
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13. Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation

Author: Jobe, Alan H., Caplan, Michael S., Polin, Richard A., Laptook, Abbot R., Oh, William, Hensman, Angelita M., Gingras, Dan, Barnett, Susan, Lillie, Sarah, Francis, Kim, Andrews, Dawn, Angela, Kristen, Walsh, Michele C., Fanaroff, Avroy A., Newman, Nancy S., Siner, Bonnie S., Schibler, Kurt, Donovan, Edward F., Narendran, Vivek, Bridges, Kate, Alexander, Barbara, Grisby, Cathy, Mersmann, Marcia Worley, Mincey, Holly L., Hessling, Jody, Goldberg, Ronald N., Auten, Kathy J., Fisher, Kimberly A., Foy, Katherine A., Siaw, Gloria, Stoll, Barbara J., Buchter, Susie, Piazza, Anthony, Carlton, David P., Hale, Ellen C., Archer, Stephanie Wilson, Poindexter, Brenda B., Lemons, James A., Hamer, Faithe, Herron, Dianne E., Miller, Lucy C., Wilson, Leslie D., Berberich, Mary Anne, Blaisdell, Carol J., Gail, Dorothy B., Kiley, James P., Poole, W. Kenneth, Cunningham, Margaret, Hastings, Betty K., Irene, Amanda R., Auman, Jeanette O'Donnell, Huitema, Carolyn Petrie, Pickett, James W., II, Wallace, Dennis, Zaterka-Baxter, Kristin M., Van Meurs, Krisa P., Stevenson, David K., Ball, M. Bethany, Proud, Melinda S., Frantz, Ivan D., III, Fiascone, John M., Furey, Anne, MacKinnon, Brenda L., Nylen, Ellen, Collins, Monica V., Cosby, Shirley S., Phillips, Vivien A., Rasmussen, Maynard R., Wozniak, Paul R., Rich, Wade, Arnell, Kathy, Bridge, Renee, Demetrio, Clarence, Bell, Edward F., Widness, John A., Klein, Jonathan M., Johnson, Karen J., Duara, Shahnaz, Everett-Thomas, Ruth, Watterberg, Kristi L., Ohls, Robin K., Rohr, Julie, Lacy, Conra Backstrom, Phelps, Dale L., Laroia, Nirupama, Reubens, Linda J., Burnell, Erica, Sánchez, Pablo J., Rosenfeld, Charles R., Salhab, Walid A., Allen, James, Guzman, Alicia, Hensley, Gaynelle, Lepps, Melissa H., Martin, Melissa, Miller, Nancy A., Solis, Araceli, Vasil, Diana M., Wilder, Kerry, Kennedy, Kathleen A., Tyson, Jon E., Morris, Brenda H., Harris, Beverly Foley, Lis, Anna E., Martin, Sarah, McDavid, Georgia E., Tate, Patti L., Wright, Sharon L., Yoder, Bradley A., Faix, Roger G., Burnett, Jill, Jensen, Jennifer J., Osborne, Karen A., Spencer, Cynthia, Weaver-Lewis, Kimberlee, O'Shea, T. Michael, Peters, Nancy J., Sood, Beena G., Bara, Rebecca, Billian, Elizabeth, Johnson, Mary, Ehrenkranz, Richard A., Jacobs, Harris C., Bhandari, Vineet, Cervone, Pat, Gettner, Patricia, Konstantino, Monica, Poulsen, JoAnn, Taft, Janet, Chawla, Sanjay, Natarajan, Girija, Shankaran, Seetha, Carper, Benjamin, Brion, Luc P., Keszler, Martin, Carlo, Waldemar A., Ambalavanan, Namasivayam, Gantz, Marie G., Das, Abhik, Finer, Neil, Cotten, C. Michael, and Higgins, Rosemary D.
Published: 2017
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14. Association between Use of Prophylactic Indomethacin and the Risk for Bronchopulmonary Dysplasia in Extremely Preterm Infants

Author: Caplan, Michael S., Polin, Richard A., Laptook, Abbot R., Keszler, Martin, Hensman, Angelita M., Basso, Kristin M., Vieira, Elisa, Little, Emily, Fanaroff, Avroy A., Hibbs, Anna Marie, Newman, Nancy S., Truog, William E., Kilbride, Howard W., Pallotto, Eugenia K., Gauldin, Cheri, Holmes, Anne, Johnson, Kathy, Knutson, Allison, Schibler, Kurt, Donovan, Edward F., Alexander, Barbara, Grisby, Cathy, Hessling, Jody, Fischer, Estelle E., Jackson, Lenora D., Kirker, Kristin, Muthig, Greg, Goldberg, Ronald N., Cotten, C. Michael, Fisher, Kimberley A., Auten, Kathy J., Foy, Katherine A., Grimes, Sandra, Finkle, Joanne, Laughon, Matthew M., Bose, Carl L., Bernhardt, Janice, Bose, Gennie, Carlton, David P., Hale, Ellen C., Archer, Stephanie Wilson, Poindexter, Brenda B., Sokol, Gregory M., Wilson, Leslie Dawn, Herron, Dianne E., Sánchez, Pablo J., Nelin, Leif D., Jadcherla, Sudarshan R., Luzader, Patricia, Fortney, Christine A., Besner, Gail E., Parikh, Nehal A., Das, Abhik, Wallace, Dennis, Auman, Jeanette O'Donnell, Crawford, Margaret M., Petrie Huitema, Carolyn M., Zaterka-Baxter, Kristin M., Van Meurs, Krisa P., Adams, Marian M., Stevenson, David K., Ball, M. Bethany, Palmquist, Andrew W., Proud, Melinda S., Frantz, Ivan D., III, Fiascone, John M., MacKinnon, Brenda L., Nylen, Ellen, Carlo, Waldemar A., Ambalavanan, Namasivayam, Collins, Monica V., Cosby, Shirley S., Devaskar, Uday, Garg, Meena, Chanlaw, Teresa, Geller, Rachel, Bell, Edward F., Ellsbury, Dan L., Widness, John A., Johnson, Karen J., Campbell, Donia B., Watterberg, Kristi L., Ohls, Robin K., Lacy, Conra Backstrom, Montman, Rebecca A., Brown, Sandra, Wussow, Theresa, Hartenberger, Carol, Schmidt, Barbara, Kirpalani, Haresh, DeMauro, Sara B., Chaudhary, Aasma S., Abbasi, Soraya, Mancini, Toni, Cucinotta, Dara M., D'Angio, Carl T., Guillet, Ronnie, Lakshminrusimha, Satyan, Reynolds, Ann Marie, Reubens, Linda J., Jensen, Rosemary, Maffett, Deana, Wadkins, Holly I.M., Sacilowski, Michael G., Williams, Ashley, Guilford, Stephanie, Horihan, Cassandra A., Kennedy, Kathleen A., Tyson, Jon E., Burson, Katrina, Harris, Beverly Foley, McDavid, Georgia E., Pierce Tate, Patti L., Wright, Sharon L., Brion, Luc P., Chen, Lijun, Guzman, Alicia, Leps, Melissa H., Miller, Nancy A., Morgan, Janet S., Vasil, Diana M., Torres, Lizette E., Faix, Roger G., Yoder, Bradley A., Osborne, Karen A., Bird, Karie, Burnett, Jill, Jensen, Jennifer J., Spencer, Cynthia, Weaver-Lewis, Kimberlee, Zanetti, Karen, Shankaran, Seetha, Barks, John, Bara, Rebecca, Johnson, Mary, Christensen, Mary, Wiggins, Stephanie, Ehrenkranz, Richard A., Jacobs, Harris, Cervone, Patricia, Konstantino, Monica, Poulsen, JoAnn, Taft, Janet, Jensen, Erik A., Dysart, Kevin C., Gantz, Marie G., Carper, Benjamin, Higgins, Rosemary D., Stoll, Barbara J., and Walsh, Michele C.
Published: 2017
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15. Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort

Author: Jobe, Alan H., Caplan, Michael S., Polin, Richard A., Laptook, Abbot R., Oh, William, Hensman, Angelita M., Gingras, Dan, Barnett, Susan, Lillie, Sarah, Francis, Kim, Andrews, Dawn, Angela, Kristen, Fanaroff, Avroy A., Newman, Nancy S., Siner, Bonnie S., Zadell, Arlene, Schibler, Kurt, Donovan, Edward F., Bridges, Kate, Alexander, Barbara, Grisby, Cathy, Mersmann, Marcia Worley, Mincey, Holly L., Hessling, Jody, Goldberg, Ronald N., Cotten, C. Michael, Wallace, David K., Freedman, Sharon F., Auten, Kathy J., Fisher, Kimberly A., Foy, Katherine A., Stoll, Barbara J., Piazza, Anthony J., Buchter, Susie, Carlton, David P., Hutchinson, Amy K., Hale, Ellen C., Higgins, Rosemary D., Archer, Stephanie Wilson, Poindexter, Brenda B., Lemons, James A., Hamer, Faithe, Herron, Dianne E., Miller, Lucy C., Wilson, Leslie D., Berberich, Mary Anne, Blaisdell, Carol J., Gail, Dorothy B., Kiley, James P., Gantz, Marie G., Das, Abhik, Crawford, Margaret M., Hastings, Betty K., Irene, Amanda R., O'Donnell Auman, Jeanette, Huitema, Carolyn Petrie, Pickett, James W., II, Wallace, Dennis, Zaterka-Baxter, Kristin M., Van Meurs, Krisa P., Stevenson, David K., Ball, M. Bethany, Proud, Melinda S., Frantz, Ivan D., III, Fiascone, John M., Furey, Anne, MacKinnon, Brenda L., Nylen, Ellen, Ambalavanan, Namasivayam, Collins, Monica V., Cosby, Shirley S., Phillips, Vivien A., Rasmussen, Maynard R., Wozniak, Paul R., Rich, Wade, Arnell, Kathy, Bridge, Renee, Demetrio, Clarence, Bell, Edward F., Widness, John A., Klein, Jonathan M., Johnson, Karen J., Duara, Shahnaz, Everett-Thomas, Ruth, Watterberg, Kristi L., Ohls, Robin K., Rohr, Julie, Lacy, Conra Backstrom, Phelps, Dale L., Laroia, Nirupama, Markowitz, Gary David, Reubens, Linda J., Burnell, Erica, Sánchez, Pablo J., Rosenfeld, Charles R., Salhab, Walid A., Allen, James, Grau, Laura, Guzman, Alicia, Hensley, Gaynelle, Lepps, Melissa H., Martin, Melissa, Miller, Nancy A., Solis, Araceli, Vasil, Diana M, Wilder, Kerry, Kennedy, Kathleen A., Tyson, Jon E., Morris, Brenda H., Harris, Beverly Foley, Lis, Anna E., Martin, Sarah, McDavid, Georgia E., Tate, Patti L., Wright, Sharon L., Yoder, Bradley A., Faix, Roger G., Burnett, Jill, Jensen, Jennifer J., Osborne, Karen A., Spencer, Cynthia, Weaver-Lewis, Kimberlee, O'Shea, T. Michael, Peters, Nancy J., Shankaran, Seetha, Sood, Beena G., Bara, Rebecca, Billian, Elizabeth, Johnson, Mary, Ehrenkranz, Richard A., Narendran, Vivek, Bhandari, Vineet, Jacobs, Harris C., Cervone, Pat, Gettner, Patricia, Konstantino, Monica, Poulsen, JoAnn, Taft, Janet, Di Fiore, Juliann M., Martin, Richard J., Li, Hong, Morris, Nathan, Carlo, Waldemar A., Finer, Neil, and Walsh, Michele
Published: 2017
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16. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability.

Author: O'Brien, Matthew P., Pryzhkova, Marina V., Lake, Evelyn M. R., Mandino, Francesca, Shen, Xilin, Karnik, Ruchika, Atkins, Alisa, Xu, Michelle J., Ji, Weizhen, Konstantino, Monica, Brueckner, Martina, Ment, Laura R., Khokha, Mustafa K., and Jordan, Philip W.
Subjects: CONGENITAL heart disease, HYPOPLASTIC left heart syndrome, HEART, HEART size, DISABILITIES, NEURAL development, AGENESIS of corpus callosum, BRAIN physiology
Abstract: Up to 50% of patients with severe congenital heart disease (CHD) develop life-altering neurodevelopmental disability (NDD). It has been presumed that NDD arises in CHD cases because of hypoxia before, during, or after cardiac surgery. Recent studies detected an enrichment in de novo mutations in CHD and NDD, as well as significant overlap between CHD and NDD candidate genes. However, there is limited evidence demonstrating that genes causing CHD can produce NDD independent of hypoxia. A patient with hypoplastic left heart syndrome and gross motor delay presented with a de novo mutation in SMC5. Modeling mutation of smc5 in Xenopus tropicalis embryos resulted in reduced heart size, decreased brain length, and disrupted pax6 patterning. To evaluate the cardiac development, we induced the conditional knockout (cKO) of Smc5 in mouse cardiomyocytes, which led to the depletion of mature cardiomyocytes and abnormal contractility. To test a role for Smc5 specifically in the brain, we induced cKO in the mouse central nervous system, which resulted in decreased brain volume, and diminished connectivity between areas related to motor function but did not affect vascular or brain ventricular volume. We propose that genetic factors, rather than hypoxia alone, can contribute when NDD and CHD cases occur concurrently. [ABSTRACT FROM AUTHOR]
Published: 2024
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17. Growth Outcomes of Preterm Infants Exposed to Different Oxygen Saturation Target Ranges from Birth

Author: Das, Abhik, Gantz, Marie, Jobe, Alan H., Caplan, Michael S., Fanaroff, Avroy A., Wilson-Costello, Deanne E., Siner, Bonnie S., Zadell, Arlene, DiFiore, Julie, Bhola, Monika, Friedman, Harriet G., Yalcinkaya, Gulgun, Donovan, Edward F., Narendran, Vivek, Yolton, Kimberly, Bridges, Kate, Alexander, Barbara, Grisby, Cathy, Mersmann, Marcia Worley, Mincey, Holly L., Hessling, Jody, Gratton, Teresa L., Goldberg, Ronald N., Goldstein, Ricki F., Ashley, Patricia, Auten, Kathy J., Fisher, Kimberley A., Foy, Katherine A., Freedman, Sharon F., Gustafson, Kathryn E., Lohmeyer, Melody B., Malcolm, William F., Wallace, David K., Stoll, Barbara J., Adams-Chapman, Ira, Buchter, Susie, Carlton, David P., Carter, Sheena, Fritz, Sobha, Hale, Ellen C., Hutchinson, Amy K., LaRossa, Maureen Mulligan, Smikle, Gloria V., Archer, Stephanie Wilson, Dusick, Anna M., Lemons, James A., Myers, Gary J., Wilson, Leslie D., Hamer, Faithe, Cook, Ann B., Herron, Dianne E., Lytle, Carolyn, Minnich, Heike M., Berberich, Mary Anne, Blaisdell, Carol J., Gail, Dorothy B., Kiley, James P., Poole, W. Kenneth, Newman, Jamie E., Hastings, Betty K., O'Donnell Auman, Jeanette, Huitema, Carolyn Petrie, Pickett, James W., II, Wallace, Dennis, Zaterka-Baxter, Kristin M., Stevenson, David K., Hintz, Susan R., Ball, M. Bethany, Bentley, Barbara, Bruno, Elizabeth F., Davis, Alexis S., DeAnda, Maria Elena, DeBattista, Anne M., Huffman, Lynne C., Kohn, Jean G., Proud, Melinda S., Pyle, Renee P., St. John, Nicholas H., Weiss, Hali E., Fiascone, John M., McGowan, Elisabeth C., Furey, Anne, MacKinnon, Brenda L., Nylen, Ellen, Brussa, Ana, Sibley, Cecelia, Ambalavanan, Namasivayam, Peralta-Carcelen, Myriam, Collins, Monica V., Cosby, Shirley S., Phillips, Vivien A., Bailey, Kirstin J., Biasini, Fred J., Hopkins, Maria, Johnston, Kristen C., Krzywanski, Sara, Nelson, Kathleen G., Patterson, Cryshelle S., Rector, Richard V., Rodriguez, Leslie, Soong, Amanda, Whitley, Sally, York, Sheree, Widness, John A., Acarregui, Michael J., Klein, Jonathan M., Colaizy, Tarah T., Johnson, Karen J., Eastman, Diane L., Bauer, Charles R., Everett-Thomas, Ruth, Calejo, Maria, Diaz, Alexis N., Frade Eguaras, Silvia M., Garcia, Andrea, Hamlin-Smith, Kasey, Berkowits, Michelle Harwood, Hiriart-Fajardo, Sylvia, Pierre, Helina, Rigaud, Arielle, Stroerger, Alexandra, Ohls, Robin K., Fuller, Janell, Rohr, Julie, Lacy, Conra Backstrom, Lowe, Jean, Montman, Rebecca, Brion, Luc, Rosenfeld, Charles R., Salhab, Walid A., Heyne, Roy J., Adams, Sally S., Allen, James, Chen, Lijun, Grau, Laura, Guzman, Alicia, Hensley, Gaynelle, Heyne, Elizabeth T., Hickman, Jackie, Lepps, Melissa H., Madden, Linda A., Miller, Nancy A., Morgan, Janet S., Solis, Araceli, Torres, Lizette E., Boatman, Catherine Twell, Vasil, Diana M, Kennedy, Kathleen A., Tyson, Jon E., Akpa, Esther G., Alaniz, Nora I., Dieterich, Susan, Evans, Patricia W., Green, Charles, Harris, Beverly Foley, Jiminez, Margarita, Lis, Anna E., Martin, Karen, Martin, Sarah, McDavid, Georgia E., Morris, Brenda H., Poundstone, M. Layne, Reddoch, Stacey, Siddiki, Saba, Simmons, Maegan C., Pierce Tate, Patti L., Wright, Sharon L., Sood, Beena G., Pappas, Athina, Bara, Rebecca, Billian, Elizabeth, Goldston, Laura A., Johnson, Mary, Bhandari, Vineet, Jacobs, Harris C., Cervone, Pat, Gettner, Patricia, Konstantino, Monica, Poulsen, JoAnn, Taft, Janet, Butler, Christine G., Close, Nancy, Gilliam, Walter, Greisman, Sheila, Romano, Elaine, Williams, Joanne, Navarrete, Cristina T., Wrage, Lisa A., Carlo, Waldemar A., Walsh, Michele C., Rich, Wade, Gantz, Marie G., Schibler, Kurt, Newman, Nancy S., Piazza, Anthony J., Poindexter, Brenda B., Shankaran, Seetha, Sánchez, Pablo J., Frantz, Ivan D., III, Van Meurs, Krisa P., Cotten, C. Michael, Ehrenkranz, Richard A., Bell, Edward F., Watterberg, Kristi L., Higgins, Rosemary D., and Duara, Shahnaz
Published: 2016
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18. Impact of Optimized Breastfeeding on the Costs of Necrotizing Enterocolitis in Extremely Low Birthweight Infants

Author: Jobe, Alan H., Oh, William, Vohr, Betty R., Walden, Rachel V., Alksninis, Barbara, Hensman, Angelita M., Leonard, Martha R., Noel, Lucy, Leach, Teresa M., Watson, Victoria E., Fanaroff, Avroy A., Walsh, Michele C., Wilson-Costello, Deanne E., Newman, Nancy S., Siner, Bonnie S., Friedman, Harriet G., Donovan, Edward F., Schibler, Kurt, Steichen, Jean J., Alexander, Barbara, Grisby, Cathy, Mersmann, Marcia Worley, Mincey, Holly L., Hessling, Jody, Gratton, Teresa L., Stoll, Barbara J., Adams-Chapman, Ira, Hale, Ellen C., LaRossa, Maureen Mulligan, Carter, Sheena, Higgins, Rosemary D., Wright, Linda L., McClure, Elizabeth M., Poindexter, Brenda B., Lemons, James A., Dusick, Anna M., Kardatzke, Darlene, Lytle, Carolyn, Appel, Diana D., Bohnke, Lon G., Eaken, Greg, Herron, Dianne E., Miller, Lucy C., Richard, Leslie, Wilson, Leslie Dawn, Das, Abhik, Poole, W. Kenneth, Wrage, Lisa Ann, Hastings, Betty K., O'Donnell Auman, Jeanette, Taylor, Sarah, Stevenson, David K., Hintz, Susan R., Ball, M. Bethany, Kohn, Jean G., Baran, Joan M., Lee-Ancajas, Julie C., St. John, Nicholas H., Carlo, Waldemar A., Ambalavanan, Namasivayam, Nelson, Kathleen G., Peralta-Carcelen, Myriam, Bailey, Kirstin J., Biasini, Fred J., Chopko, Stephanie A., Collins, Monica V., Cosby, Shirley S., Phillips, Vivien A., Rector, Richard V., Finer, Neil N., Vaucher, Yvonne E., Anderson, Jack M., Rasmussen, Maynard R., Arnell, Kathy, Demetrio, Clarence, Fuller, Martha G., Henderson, Christopher, Posin, Donna, Bell, Edward F., Colaizy, Tarah T., Bauer, Charles R., Duara, Shahnaz, Worth, Amy Mur, Everett-Thomas, Ruth, Diaz, Alexis N., Mathews, Elaine O., Hamlin-Smith, Kasey, Jean-Gilles, Lisa, Calejo, Maria, Frade, Silvia M., Hiriart-Fajardo, Silvia, Gideon, Yamiley, Korones, Sheldon B., Bada, Henrietta S., Hudson, Tina, Yolton, Kimberly, Williams, Marilyn G., Laptook, Abbot R., Salhab, Walid A., Broyles, R. Sue, Madison, Susie, Hickman, Jackie F., Guzman, Alicia, Adams, Sally S., Madden, Linda A., Heyne, Elizabeth T., Dooley, Cristin, Shankaran, Seetha, Delaney-Black, Virginia, Johnson, Yvette R., Bara, Rebecca, Muran, Geraldine, Kennedy, Deborah, Goldston, Laura A., Ehrenkranz, Richard A., Gettner, Patricia, Konstantino, Monica, Romano, Elaine, Close, Nancy, Gilliam, Walter S., Poulsen, JoAnn, Bartick, Melissa C., Jegier, Briana J., Green, Brittany D., Reinhold, Arnold G., Schaefer, Andrew J., Bogen, Debra L., Schwarz, Eleanor Bimla, and Stuebe, Alison M.
Published: 2016
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19. Blood Cytokine Profiles Associated with Distinct Patterns of Bronchopulmonary Dysplasia among Extremely Low Birth Weight Infants

Author: Das, Abhik, McDonald, Scott A., Jobe, Alan H., Laptook, Abbot R., Oh, William, Rubin, Lewis P., Hensman, Angelita M., Fanaroff, Avroy A., Walsh, Michele C., Newman, Nancy S., Siner, Bonnie S., Donovan, Edward F., Narendran, Vivek, Alexander, Barbara, Grisby, Cathy, Hessling, Jody, Mersmann, Marcia Worley, Mincey, Holly L., Cotten, C. Michael, Auten, Kathy J., Hale, Ellen C., Wright, Linda L., Yaffe, Sumner J., McClure, Elizabeth M., Poindexter, Brenda B., Lemons, James A., Appel, Diana D., Herron, Dianne E., Wilson, Leslie D., Poole, W. Kenneth, Hastings, Betty K., Zaterka-Baxter, Kristin M., O'Donnell Auman, Jeanette, Schaefer, Scott E., Stevenson, David K., Van Meurs, Krisa P., Ball, M. Bethany, Skogstrand, Kristin, Hougaard, David M., Collins, Monica V., Cosby, Shirley S., Finer, Neil N., Rasmussen, Maynard R., Kaegi, David, Arnell, Kathy, Demetrio, Clarence, Rich, Wade, Bauer, Charles R., Duara, Shahnaz, Everett-Thomas, Ruth, Papile, Lu-Ann, Lacy, Conra Backstrom, Korones, Sheldon B., Bada, Henrietta S., Hudson, Tina, Salhab, Walid A., Madison, Susie, Kennedy, Kathleen A., Morris, Brenda H., Akpa, Esther G., Cluff, Patty A., Franco, Claudia I., Lis, Anna E., McDavid, Georgia E., Tate, Patti Pierce, O'Shea, T. Michael, Peters, Nancy J., Konduri, G. Ganesh, Bara, Rebecca, Muran, Geraldine, Gettner, Patricia, Konstantino, Monica, Poulsen, JoAnn, D'Angio, Carl T., Ambalavanan, Namasivayam, Carlo, Waldemar A., Shankaran, Seetha, Goldberg, Ronald N., Ehrenkranz, Richard A., Tyson, Jon E., Stoll, Barbara J., and Higgins, Rosemary D.
Published: 2016
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20. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report

Author: Sandokji, Ibrahim, Marquez, Jonathan, Ji, Weizhen, Zerillo, Cynthia A., Konstantino, Monica, Lakhani, Saquib A., Khokha, Mustafa K., and Warejko, Jillian K.
Published: 2019
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21. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Author: Jeffries, Lauren, Shima, Hirohito, Ji, Weizhen, Panisello‐Manterola, David, McGrath, James, Bird, Lynne M., Konstantino, Monica, Narumi, Satoshi, and Lakhani, Saquib
Published: 2018
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22. A retrospective cohort analysis of the Yale pediatric genomics discovery program

Author: Al‐Ali, Samir, primary, Jeffries, Lauren, additional, Faustino, E. Vincent S., additional, Ji, Weizhen, additional, Mis, Emily, additional, Konstantino, Monica, additional, Zerillo, Cynthia, additional, Jiang, Yong‐hui, additional, Spencer‐Manzon, Michele, additional, Bale, Allen, additional, Zhang, Hui, additional, McGlynn, Julie, additional, McGrath, James M., additional, Tremblay, Thierry, additional, Brodsky, Nina N., additional, Lucas, Carrie L., additional, Pierce, Richard, additional, Deniz, Engin, additional, Khokha, Mustafa K., additional, and Lakhani, Saquib A., additional
Published: 2022
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23. Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation

Author: Chawla, Sanjay, Natarajan, Girija, Shankaran, Seetha, Carper, Benjamin, Brion, Luc P., Keszler, Martin, Carlo, Waldemar A., Ambalavanan, Namasivayam, Gantz, Marie G., Das, Abhik, Finer, Neil, Goldberg, Ronald N., Cotten, Michael C., Higgins, Rosemary D., Jobe, Alan H., Caplan, Michael S., Polin, Richard A., Laptook, Abbot R., Oh, William, Hensman, Angelita M., Gingras, Dan, Barnett, Susan, Lillie, Sarah, Francis, Kim, Andrews, Dawn, Angela, Kristen, Walsh, Michele C., Fanaroff, Avroy A., Newman, Nancy S., Siner, Bonnie S., Schibler, Kurt, Donovan, Edward F., Narendran, Vivek, Bridges, Kate, Alexander, Barbara, Grisby, Cathy, Mersmann, Marcia Worley, Mincey, Holly L., Hessling, Jody, Auten, Kathy J., Fisher, Kimberly A., Foy, Katherine A., Siaw, Gloria, Stoll, Barbara J., Buchter, Susie, Piazza, Anthony, Carlton, David P., Hale, Ellen C., Archer, Stephanie Wilson, Poindexter, Brenda B., Lemons, James A., Hamer, Faithe, Herron, Dianne E., Miller, Lucy C., Wilson, Leslie D., Berberich, Mary Anne, Blaisdell, Carol J., Gail, Dorothy B., Kiley, James P., Poole, Kenneth W., Cunningham, Margaret, Hastings, Betty K., Irene, Amanda R., Auman, Jeanette OʼDonnell, Huitema, Carolyn Petrie, Pickett, James W., II, Wallace, Dennis, Zaterka-Baxter, Kristin M., Van Meurs, Krisa P., Stevenson, David K., Ball, Bethany M., Proud, Melinda S., Frantz, Ivan D., III, Fiascone, John M., Furey, Anne, MacKinnon, Brenda L., Nylen, Ellen, Collins, Monica V., Cosby, Shirley S., Phillips, Vivien A., Rasmussen, Maynard R., Wozniak, Paul R., Rich, Wade, Arnell, Kathy, Bridge, Renee, Demetrio, Clarence, Bell, Edward F., Widness, John A., Klein, Jonathan M., Johnson, Karen J., Duara, Shahnaz, Everett-Thomas, Ruth, Watterberg, Kristi L., Ohls, Robin K., Rohr, Julie, Lacy, Conra Backstrom, Phelps, Dale L., Laroia, Nirupama, Reubens, Linda J., Burnell, Erica, Sánchez, Pablo J., Rosenfeld, Charles R., Salhab, Walid A., Allen, James, Guzman, Alicia, Hensley, Gaynelle, Lepps, Melissa H., Martin, Melissa, Miller, Nancy A., Solis, Araceli, Vasil, Diana M., Wilder, Kerry, Kennedy, Kathleen A., Tyson, Jon E., Morris, Brenda H., Harris, Beverly Foley, Lis, Anna E., Martin, Sarah, McDavid, Georgia E., Tate, Patti L., Wright, Sharon L., Yoder, Bradley A., Faix, Roger G., Burnett, Jill, Jensen, Jennifer J., Osborne, Karen A., Spencer, Cynthia, Weaver-Lewis, Kimberlee, OʼShea, Michael T., Peters, Nancy J., Sood, Beena G., Bara, Rebecca, Billian, Elizabeth, Johnson, Mary, Ehrenkranz, Richard A., Jacobs, Harris C., Bhandari, Vineet, Cervone, Pat, Gettner, Patricia, Konstantino, Monica, Poulsen, JoAnn, and Taft, Janet
Published: 2017
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24. Growth Rates of Infants Randomized to Continuous Positive Airway Pressure or Intubation After Extremely Preterm Birth

Author: Salas, Ariel A., primary, Carlo, Waldemar A., additional, Do, Barbara T., additional, Bell, Edward F., additional, Das, Abhik, additional, Van Meurs, Krisa P., additional, Poindexter, Brenda B., additional, Shankaran, Seetha, additional, Younge, Noelle, additional, Watterberg, Kristi L., additional, Higgins, Rosemary D., additional, Jobe, Alan H., additional, Caplan, Michael S., additional, Laptook, Abbot R., additional, Oh, William, additional, Vohr, Betty R., additional, Hensman, Angelita M., additional, Stephens, Bonnie E., additional, Alksninis, Barbara, additional, Andrews, Dawn, additional, Angela, Kristen, additional, Barnett, Susan, additional, Cashore, Bill, additional, Caskey, Melinda, additional, Francis, Kim, additional, Gingras, Dan, additional, Gargus, Regina A., additional, Johnson, Katharine, additional, Lainwala, Shabnam, additional, Leach, Theresa M., additional, Leonard, Martha R., additional, Lillie, Sarah, additional, Mehta, Kalida, additional, Moore, James R., additional, Noel, Lucy, additional, Ventura, Suzy, additional, Walden, Rachel V., additional, Watson, Victoria E., additional, Walsh, Michele C., additional, Fanaroff, Avroy A., additional, Newman, Nancy S., additional, Wilson-Costello, Deanne E., additional, Siner, Bonnie S., additional, Zadell, Arlene, additional, DiFiore, Julie, additional, Bhola, Monika, additional, Friedman, Harriet G., additional, Yalcinkaya, Gulgun, additional, Schibler, Kurt, additional, Donovan, Edward F., additional, Yolton, Kimberly, additional, Narendran, Vivek, additional, Bridges, Kate, additional, Alexander, Barbara, additional, Grisby, Cathy, additional, Mersmann, Marcia Worley, additional, Mincey, Holly L., additional, Hessling, Jody, additional, Gratton, Teresa L., additional, Goldberg, Ronald N., additional, Cotten, C. Michael, additional, Goldstein, Ricki F., additional, Ashley, Patricia, additional, Auten, Kathy J., additional, Fisher, Kimberley A., additional, Foy, Katherine A., additional, Freedman, Sharon F., additional, Gustafson, Kathryn E., additional, Lohmeyer, Melody B., additional, Malcolm, William F., additional, Wallace, David K., additional, Stoll, Barbara J., additional, Buchter, Susie, additional, Piazza, Anthony J., additional, Carlton, David P., additional, Adams-Chapman, Ira, additional, Black, Linda, additional, Blackwelder, Ann M., additional, Carter, Sheena, additional, Dinkins, Elisabeth, additional, Fritz, Sobha, additional, Hale, Ellen C., additional, Hutchinson, Amy K., additional, LaRossa, Maureen Mulligan, additional, Smikle, Gloria V., additional, Archer, Stephanie Wilson, additional, Lemons, James A., additional, Dusick, Anna M., additional, Wilson, Leslie D., additional, Hamer, Faithe, additional, Cook, Ann B., additional, Herron, Dianne E., additional, Lytle, Carolyn, additional, Minnich, Heike M., additional, Berberich, Mary Anne, additional, Blaisdell, Carol J., additional, Gail, Dorothy B., additional, Kiley, James P., additional, Poole, W. Kenneth, additional, Gantz, Marie G., additional, Newman, Jamie E., additional, Hastings, Betty K., additional, O'Donnell Auman, Jeanette, additional, Huitema, Carolyn Petrie, additional, Pickett, James W., additional, Wallace, Dennis, additional, Zaterka-Baxter, Kristin M., additional, Stevenson, David K., additional, Hintz, Susan R., additional, Ball, M. Bethany, additional, Bentley, Barbara, additional, Bruno, Elizabeth F., additional, Davis, Alexis S., additional, DeAnda, Maria Elena, additional, DeBattista, Anne M., additional, Kohn, Jean G., additional, Proud, Melinda S., additional, Pyle, Renee P., additional, St. John, Nicholas H., additional, Weiss, Hali E., additional, Frantz, Ivan D., additional, Fiascone, John M., additional, McGowan, Elisabeth C., additional, Furey, Anne, additional, MacKinnon, Brenda L., additional, Nylen, Ellen, additional, Brussa, Ana, additional, Sibley, Cecelia, additional, Ambalavanan, Namasivayam, additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Peralta-Carcelen, Myriam, additional, Phillips, Vivien A., additional, Bailey, Kirstin J., additional, Biasini, Fred J., additional, Hopkins, Maria, additional, Johnston, Kristen C., additional, Krzywanski, Sara, additional, Nelson, Kathleen G., additional, Patterson, Cryshelle S., additional, Rector, Richard V., additional, Rodriguez, Leslie, additional, Soong, Amanda, additional, Whitley, Sally, additional, York, Sheree, additional, Finer, Neil N., additional, Rasmussen, Maynard R., additional, Wozniak, Paul R., additional, Vaucher, Yvonne E., additional, Rich, Wade, additional, Arnell, Kathy, additional, Barbieri-Welge, Rene, additional, Ben-Tall, Ayala, additional, Bridge, Renee, additional, Demetrio, Clarence, additional, Fuller, Martha G., additional, Ito, Elaine, additional, Lukasik, Meghan, additional, Pontillo, Deborah, additional, Posin, Donna, additional, Runyan, Cheryl, additional, Wilkes, James, additional, Zlotnik, Paul, additional, Widness, John A., additional, Klein, Jonathan M., additional, Colaizy, Tarah T., additional, Johnson, Karen J., additional, Acarregui, Michael J., additional, Eastman, Diane L., additional, Duara, Shahnaz, additional, Bauer, Charles R., additional, Everett-Thomas, Ruth, additional, Calejo, Maria, additional, Diaz, Alexis N., additional, Frade Eguaras, Silvia M., additional, Garcia, Andrea, additional, Hamlin-Smith, Kasey, additional, Berkowits, Michelle Harwood, additional, Hiriart-Fajardo, Sylvia, additional, Mathews, Elaine O., additional, Pierre, Helina, additional, Riguard, Arielle, additional, Stroerger, Alexandra, additional, Ohls, Robin K., additional, Fuller, Janell, additional, Rohr, Julie, additional, Lacy, Conra Backstrom, additional, Lowe, Jean, additional, Montman, Rebecca, additional, Laroia, Nirupama, additional, Phelps, Dale L., additional, Myers, Gary J., additional, Markowitz, Gary David, additional, Reubens, Linda J., additional, Hust, Diane, additional, Augostino, Lisa, additional, Johnson, Julie Babish, additional, Burnell, Erica, additional, Gelbard, Harris, additional, Jensen, Rosemary L., additional, Kushner, Emily, additional, Merzbach, Joan, additional, Mink, Jonathan, additional, Torres, Carlos, additional, Wang, David, additional, Yost, Kelley, additional, Sánchez, Pablo J., additional, Rosenfeld, Charles R., additional, Salhab, Walid A., additional, Heyne, Roy J., additional, Adams, Sally S., additional, Allen, James, additional, Grau, Laura, additional, Guzman, Alicia, additional, Hensley, Gaynelle, additional, Heyne, Elizabeth T., additional, Lepps, Melissa H., additional, Madden, Linda A., additional, Martin, Melissa, additional, Miller, Nancy A., additional, Morgan, Janet S., additional, Solis, Araceli, additional, Torres, Lizette E., additional, Boatman, Catherine Twell, additional, Vasil, Diana M., additional, Wilder, Kerry, additional, Kennedy, Kathleen A., additional, Tyson, Jon E., additional, Alaniz, Nora I., additional, Evans, Patricia W., additional, Harris, Beverly Foley, additional, Green, Charles, additional, Jiminez, Margarita, additional, Lis, Anna E., additional, Martin, Sarah, additional, McDavid, Georgia E., additional, Morris, Brenda H., additional, Poundstone, Margaret L., additional, Reddoch, Stacy, additional, Siddiki, Saba, additional, Pierce Tate, Patti L., additional, Whitely, Laura L., additional, Wright, Sharon L., additional, Yoder, Bradley A., additional, Faix, Roger G., additional, Baker, Shawna, additional, Bird, Karie, additional, Burnett, Jill, additional, Cole, Laura, additional, Osborne, Karen A., additional, Spencer, Cynthia, additional, Steffens, Mike, additional, Weaver-Lewis, Kimberlee, additional, Zanetti, Karen, additional, O'Shea, T. Michael, additional, Dillard, Robert G., additional, Washburn, Lisa K., additional, Peters, Nancy J., additional, Jackson, Barbara G., additional, Chiu, Korinne, additional, Allred, Deborah Evans, additional, Goldstein, Donald J., additional, Halfond, Raquel, additional, Peterson, Carroll, additional, Waldrep, Ellen L., additional, Welch, Cherrie D., additional, Morris, Melissa Whalen, additional, Hounshell, Gail Wiley, additional, Pappas, Athina, additional, Sood, Beena G., additional, Bara, Rebecca, additional, Billian, Elizabeth, additional, Goldston, Laura A., additional, Johnson, Mary, additional, Ehrenkranz, Richard A., additional, Bhandari, Vineet, additional, Jacobs, Harris C., additional, Cervone, Pat, additional, Gettner, Patricia, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, Taft, Janet, additional, Butler, Christine G., additional, Close, Nancy, additional, Gilliam, Walter, additional, Greisman, Sheila, additional, Romano, Elaine, additional, and Williams, Joanne, additional
Published: 2021
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25. Outcomes of extremely low birthweight infants with acidosis at birth

Author: Randolph, David A, Nolen, Tracy L, Ambalavanan, Namasivayam, Carlo, Waldemar A, Peralta-Carcelen, Myriam, Das, Abhik, Bell, Edward F, Davis, Alexis S, Laptook, Abbot R, Stoll, Barbara J, Shankaran, Seetha, Higgins, Rosemary D, Das, Abhik, Nolen, Tracy, Jobe, Alan H, Caplan, Michael S, Laptook, Abbot R, Oh, William, Hensman, Angelita M, Fanaroff, Avroy A, Newman, Nancy S, Schibler, Kurt, Donovan, Edward F, Bridges, Kate, Alexander, Barbara, Grisby, Cathy, Mersmann, Marcia Worley, Mincey, Holly L, Hessling, Jody, Auten, Kathy J, Lohmeyer, Melody B, Carlton, David P, Hale, Ellen C, Blackwelder, Ann M, Archer, Stephanie Wilson, Poindexter, Brenda B., Lemons, James A, Herron, Dianne E, Miller, Lucy C., Wilson, Leslie Dawn, Poole, W Kenneth, Hastings, Betty K, Auman, Jeanette OʼDonnell, Huitema, Carolyn Petrie, Zaterka-Baxter, Kristin M., Van Meurs, Krisa P, Stevenson, David K, Adams, Marian M, Ball, M Bethany, Proud, Melinda S, Palmquist, Andrew W, Frantz, Ivan D, III, MacKinnon, Brenda L, Nylen, Ellen, Collins, Monica V, Cosby, Shirley S, Finer, Neil N, Wozniak, Paul R, Rasmussen, Maynard R, Arnell, Kathy, Demetrio, Clarence, Henderson, Chris, Rich, Wade, Widness, John A, Johnson, Karen J, Krutzfield, Nancy J, Duara, Shahnaz, Everett-Thomas, Ruth, Watterberg, Kristi L, Papile, Lu-Ann, Lacy, Conra Backstrom, Phelps, Dale L, Reubens, Linda J, Rowan, Mary, Burnell, Erica, Sánchez, Pablo J, Laptook, Abbot R, Rosenfeld, Charles R, Salhab, Walid A, Hensley, Gaynelle, Leps, Melissa H, Miller, Nancy A, Guzman, Alicia, Madison, Susie, Kennedy, Kathleen A, Tyson, Jon E, Akpa, Esther G, Cluff, Patty A, Harris, Beverly Foley, Franco, Claudia I, Lis, Anna E, Martin, Sarah, McDavid, Georgia E, Simmons, Maegan C, Tate, Patti Pierce, Faix, Roger G, Yoder, Bradley A, Osborne, Karen A, Jensen, Jennifer J, Spencer, Cynthia, Weaver-Lewis, Kimberlee, OʼShea, T Michael, Peters, Nancy J, Shankaran, Seetha, Bara, Rebecca, Muran, Geraldine, Ehrenkranz, Richard A, Jacobs, Harris C, Cervone, Patricia, Gettner, Patricia, Konstantino, Monica, Poulsen, JoAnn, and Taft, Janet
Published: 2014
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26. The latest FADS : Functional analysis ofGLDNpatient variants and classification ofGLDN‐associated AMC as a type of viable fetal akinesia deformation sequence

Author: Mis, Emily K., primary, Al‐Ali, Samir, additional, Ji, Weizhen, additional, Spencer‐Manzon, Michele, additional, Konstantino, Monica, additional, Khokha, Mustafa K., additional, Jeffries, Lauren, additional, and Lakhani, Saquib A., additional
Published: 2020
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27. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

Author: Marquez, Jonathan, primary, Mann, Nina, additional, Arana, Kathya, additional, Deniz, Engin, additional, Ji, Weizhen, additional, Konstantino, Monica, additional, Mis, Emily K, additional, Deshpande, Charu, additional, Jeffries, Lauren, additional, McGlynn, Julie, additional, Hugo, Hannah, additional, Widmeier, Eugen, additional, Konrad, Martin, additional, Tasic, Velibor, additional, Morotti, Raffaella, additional, Baptista, Julia, additional, Ellard, Sian, additional, Lakhani, Saquib Ali, additional, Hildebrandt, Friedhelm, additional, and Khokha, Mustafa K, additional
Published: 2020
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28. Behavior Profiles at 2 Years for Children Born Extremely Preterm with Bronchopulmonary Dysplasia

Author: Brumbaugh, Jane E., primary, Bell, Edward F., additional, Grey, Scott F., additional, DeMauro, Sara B., additional, Vohr, Betty R., additional, Harmon, Heidi M., additional, Bann, Carla M., additional, Rysavy, Matthew A., additional, Logan, J. Wells, additional, Colaizy, Tarah T., additional, Peralta-Carcelen, Myriam A., additional, McGowan, Elisabeth C., additional, Duncan, Andrea F., additional, Stoll, Barbara J., additional, Das, Abhik, additional, Hintz, Susan R., additional, Caplan, Michael S., additional, Polin, Richard A., additional, Laptook, Abbot R., additional, Keszler, Martin, additional, Hensman, Angelita M., additional, Vieira, Elisa, additional, Little, Emilee, additional, Burke, Robert T., additional, Stephens, Bonnie E., additional, Alksninis, Barbara, additional, Bishop, Carmena, additional, Keszler, Mary L., additional, Leach, Teresa M., additional, Watson, Victoria E., additional, Knoll, Andrea M., additional, Walsh, Michele C., additional, Fanaroff, Avroy A., additional, Newman, Nancy S., additional, Wilson-Costello, Deanne E., additional, Payne, Allison, additional, Bhola, Monika, additional, Yalcinkaya, Gulgun, additional, Siner, Bonnie S., additional, Friedman, Harriet G., additional, Roth, Elizabeth, additional, Truog, William E., additional, Pallotto, Eugenia K., additional, Kilbride, Howard W., additional, Gauldin, Cheri, additional, Holmes, Anne, additional, Johnson, Kathy, additional, Knutson, Allison, additional, Schibler, Kurt, additional, Poindexter, Brenda B., additional, Merhar, Stephanie, additional, Yolton, Kimberly, additional, Gratton, Teresa L., additional, Grisby, Cathy, additional, Kirker, Kristin, additional, Wuertz, Sandra, additional, Carlton, David P., additional, Adams-Chapman, Ira, additional, Hale, Ellen C., additional, Loggins, Yvonne C., additional, Bottcher, Diane I., additional, Mackie, Colleen, additional, Carter, Sheena L., additional, LaRossa, Maureen Mulligan, additional, Wineski, Lynn C., additional, Smikle, Gloria V., additional, Leon-Hernandez, Angela, additional, Kendrick-Allwood, Salathiel, additional, Cotten, C. Michael, additional, Goldberg, Ronald N., additional, Goldstein, Ricki F., additional, Malcolm, William F., additional, Ashley, Patricia L., additional, Finkle, Joanne, additional, Fisher, Kimberley A., additional, Grimes, Sandra, additional, Gustafson, Kathryn E., additional, Laughon, Matthew M., additional, Bose, Carl L., additional, Bernhardt, Janice, additional, Bose, Gennie, additional, Warner, Diane, additional, Wereszczak, Janice, additional, Kicklighter, Stephen D., additional, Rhodes-Ryan, Ginger, additional, Higgins, Rosemary D., additional, Wilson Archer, Stephanie, additional, Sokol, Gregory M., additional, Papile, Lu Ann, additional, Hines, Abbey C., additional, Herron, Dianne E., additional, Gunn, Susan, additional, Smiley, Lucy, additional, Kennedy, Kathleen A., additional, Tyson, Jon E., additional, Arldt-McAlister, Julie, additional, Burson, Katrina, additional, Dempsey, Allison G., additional, Evans, Patricia W., additional, Garcia, Carmen, additional, Jiminez, Margarita, additional, John, Janice, additional, Jones, Patrick M., additional, Lillie, M. Layne, additional, Martin, Karen, additional, Martin, Sara C., additional, McDavid, Georgia E., additional, Rodgers, Shawna, additional, Siddiki, Saba Khan, additional, Sperry, Daniel, additional, Pierce Tate, Patti L., additional, Wright, Sharon L., additional, Sánchez, Pablo J., additional, Nelin, Leif D., additional, Jadcherla, Sudarshan R., additional, Luzader, Patricia, additional, Fortney, Christine A., additional, Besner, Gail E., additional, Parikh, Nehal A., additional, Wallace, Dennis, additional, Gantz, Marie G., additional, Newman, Jamie E., additional, Auman, Jeanette O'Donnell, additional, Crawford, Margaret, additional, Gabrio, Jenna, additional, Leblond, David, additional, Petrie Huitema, Carolyn M., additional, Zaterka-Baxter, Kristin M., additional, Van Meurs, Krisa P., additional, Chock, Valerie Y., additional, Stevenson, David K., additional, Adams, Marian M., additional, Ball, M. Bethany, additional, Bentley, Barbara, additional, DeAnda, Maria Elena, additional, Debattista, Anne M., additional, Earhart, Beth, additional, Huffman, Lynne C., additional, Ismael, Magdy, additional, Krueger, Casey E., additional, Palmquist, Andrew W., additional, Proud, Melinda S., additional, Reichert, Elizabeth N., additional, Sankar, Meera N., additional, St. John, Nicholas H., additional, Taylor, Heather L., additional, Weiss, Hali E., additional, Frantz, Ivan D., additional, Fiascone, John M., additional, MacKinnon, Brenda L., additional, Nylen, Ellen, additional, Furey, Anne, additional, Sibley, Cecelia E., additional, Brussa, Ana K., additional, Carlo, Waldemar A., additional, Ambalavanan, Namasivayam, additional, Bailey, Kirstin J., additional, Biasini, Fred J., additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Phillips, Vivien A., additional, Rector, Richard V., additional, Whitley, Sally, additional, Devaskar, Uday, additional, Garg, Meena, additional, Purdy, Isabell B., additional, Chanlaw, Teresa, additional, Geller, Rachel, additional, Finer, Neil N., additional, Vaucher, Yvonne E., additional, Kaegi, David, additional, Rasmussen, Maynard R., additional, Arnell, Kathy, additional, Demetrio, Clarence, additional, Fuller, Martha G., additional, Rich, Wade, additional, West, Radmila, additional, Baack, Michelle L., additional, Ellsbury, Dan L., additional, Hogden, Laurie A., additional, Klein, Jonathan M., additional, Dagle, John M., additional, Johnson, Karen J., additional, Tud, Tracy L., additional, Elenkiwich, Chelsey, additional, Henning, Megan M., additional, Broadbent, Megan, additional, Schmelzel, Mendi L., additional, Walker, Jacky R., additional, Goeke, Claire A., additional, Watterberg, Kristi L., additional, Ohls, Robin K., additional, Backstrom Lacy, Conra, additional, Brown, Sandra, additional, Fuller, Janell, additional, Hartenberger, Carol, additional, Lowe, Jean R., additional, Sundquist Beauman, Sandra, additional, Hanson, Mary Ruffner, additional, Dupont, Tara, additional, Kuan, Elizabeth, additional, Schmidt, Barbara, additional, Kirpalani, Haresh, additional, Chaudhary, Aasma S., additional, Abbasi, Soraya, additional, Mancini, Toni, additional, Cucinotta, Dara M., additional, Bernbaum, Judy C., additional, Gerdes, Marsha, additional, Hurt, Hallam, additional, D'Angio, Carl T., additional, Guillet, Ronnie, additional, Myers, Gary J., additional, Lakshminrusimha, Satyan, additional, Reynolds, Anne Marie, additional, Hartley-McAndrew, Michelle E., additional, Wadkins, Holly I.M., additional, Sacilowski, Michael G., additional, Reubens, Linda J., additional, Jensen, Rosemary L., additional, Merzbach, Joan, additional, Zorn, William, additional, Farooq, Osman, additional, Maffett, Deanna, additional, Williams, Ashley, additional, Hunn, Julianne, additional, Guilford, Stephanie, additional, Yost, Kelley, additional, Rowan, Mary, additional, Prinzing, Diane M., additional, Wynn, Karen, additional, Fallone, Cait, additional, Scorsone, Ann Marie, additional, Wyckoff, Myra H., additional, Brion, Luc P., additional, Heyne, Roy J., additional, Vasil, Diana M., additional, Adams, Sally S., additional, Chen, Lijun, additional, De Leon, Maria M., additional, Eubanks, Frances, additional, Guzman, Alicia, additional, Heyne, Elizabeth T., additional, Madden, Linda A., additional, Miller, Nancy A., additional, Lee, Lizette E., additional, Pavageau, Lara, additional, Sepulveda, Pollieanna, additional, Boatman, Cathy Twell, additional, Faix, Roger G., additional, Yoder, Bradley A., additional, Baserga, Mariana, additional, Osborne, Karen A., additional, Baker, Shawna, additional, Bird, Karie, additional, Burnett, Jill, additional, Christensen, Susan, additional, Davis, Brandy, additional, Elmont, Jennifer O., additional, Jensen, Jennifer J., additional, Loertscher, Manndi C., additional, Marchant, Trisha, additional, Maxson, Earl, additional, Minton, Stephen D., additional, Parry, D. Melody, additional, Rau, Carrie A., additional, Schaefer, Susan T., additional, Sheffield, Mark J., additional, Spencer, Cynthia, additional, Steffen, Mike, additional, Weaver-Lewis, Kimberlee, additional, Winter, Sarah, additional, Woodbury, Kathryn D., additional, Zanetti, Karen, additional, Shankaran, Seetha, additional, Chawla, Sanjay, additional, Sood, Beena G., additional, Pappas, Athina, additional, Natarajan, Girija, additional, Bajaj, Monika, additional, Bara, Rebecca, additional, Johnson, Mary E., additional, Goldston, Laura, additional, Wiggins, Stephanie A., additional, Christensen, Mary K., additional, Carlson, Martha, additional, Barks, John, additional, White, Diane F., additional, Ehrenkranz, Richard A., additional, Jacobs, Harris, additional, Butler, Christine G., additional, Cervone, Patricia, additional, Greisman, Sheila, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, Taft, Janet, additional, and Romano, Elaine, additional
Published: 2020
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29. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

Author: Alharatani, Reham, primary, Ververi, Athina, additional, Beleza-Meireles, Ana, additional, Ji, Weizhen, additional, Mis, Emily, additional, Patterson, Quinten T, additional, Griffin, John N, additional, Bhujel, Nabina, additional, Chang, Caitlin A, additional, Dixit, Abhijit, additional, Konstantino, Monica, additional, Healy, Christopher, additional, Hannan, Sumayyah, additional, Neo, Natsuko, additional, Cash, Alex, additional, Li, Dong, additional, Bhoj, Elizabeth, additional, Zackai, Elaine H, additional, Cleaver, Ruth, additional, Baralle, Diana, additional, McEntagart, Meriel, additional, Newbury-Ecob, Ruth, additional, Scott, Richard, additional, Hurst, Jane A, additional, Au, Ping Yee Billie, additional, Hosey, Marie Therese, additional, Khokha, Mustafa, additional, Marciano, Denise K, additional, Lakhani, Saquib A, additional, and Liu, Karen J, additional
Published: 2020
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30. Developmental Outcomes of Extremely Preterm Infants with a Need for Child Protective Services Supervision

Author: McGowan, Elisabeth C., primary, Laptook, Abbot. R., additional, Lowe, Jean, additional, Peralta-Carcelen, Myriam, additional, Chowdhury, Dhuly, additional, Higgins, Rosemary D., additional, Hintz, Susan R., additional, Vohr, Betty R., additional, Polin, Richard A., additional, Laptook, Abbott R., additional, Keszler, Martin, additional, Hensman, Angelita M., additional, Alksninis, Barbara, additional, Basso, Kristin M., additional, Burke, Robert, additional, Caskey, Melinda, additional, Johnson, Katharine, additional, Keszler, Mary Lenore, additional, Knoll, Andrea M., additional, Leach, Theresa M., additional, Little, Emilee, additional, McGowan, Elisabeth C., additional, Vieira, Elisa, additional, Watson, Victoria E., additional, Ventura, Suzy, additional, Walsh, Michele C., additional, Fanaroff, Avroy A., additional, Hibbs, Anna Marie, additional, Wilson-Costello, Deanne E., additional, Newman, Nancy S., additional, Payne, Allison H., additional, Siner, Bonnie S., additional, Bhola, Monika, additional, Yalcinkaya, Gulgun, additional, Friedman, Harriet G., additional, Truog, William E., additional, Pallotto, Eugenia K., additional, Kilbride, Howard W., additional, Gauldin, Cheri, additional, Holmes, Anne, additional, Johnson, Kathy, additional, Knutson, Allison, additional, Schibler, Kurt, additional, Donovan, Edward F., additional, Grisby, Cathy, additional, Bridges, Kate, additional, Alexander, Barbara, additional, Fischer, Estelle E., additional, Mincey, Holly L., additional, Hessling, Jody, additional, Gratton, Teresa L., additional, Jackson, Lenora, additional, Kirker, Kristin, additional, Muthig, Greg, additional, Steichen, Jean J., additional, Tepe, Stacey, additional, Yolton, Kimberly, additional, Goldberg, Ronald N., additional, Cotten, C. Michael, additional, Goldstein, Ricki F., additional, Ashley, Patricia L., additional, Malcolm, William F., additional, Auten, Kathy J., additional, Fisher, Kimberley A., additional, Grimes, Sandra, additional, Gustafson, Kathryn E., additional, Lohmeyer, Melody B., additional, Finkle, Joanne, additional, Laughon, Matthew M., additional, Bose, Carl L., additional, Bernhardt, Janice, additional, Bose, Gennie, additional, Clark, Cindy, additional, Manor, Linda, additional, Warner, Diane, additional, Wereszczak, Janice, additional, Carlton, David P., additional, Stoll, Barbara J., additional, Adams-Chapman, Ira, additional, Hale, Ellen C., additional, Loggins, Yvonne, additional, Archer, Stephanie Wilson, additional, Sokol, Gregory M., additional, Poindexter, Brenda B., additional, Dusick, Anna M., additional, Papile, Lu-Ann, additional, Gunn, Susan, additional, Hamer, Faithe, additional, Herron, Dianne E., additional, Hines, Abbey C., additional, Lytle, Carolyn, additional, Minnich, Heike M., additional, Smiley, Lucy, additional, Wilson, Leslie Dawn, additional, Sanchez, Pablo J., additional, Nelin, Leif D., additional, Jadcherla, Sudarshan R., additional, Luzader, Patricia, additional, Fortney, Christine A., additional, Besner, Gail E., additional, Parikh, Nehal A., additional, Das, Abhik, additional, Wallace, Dennis, additional, Gantz, Marie G., additional, Poole, W. Kenneth, additional, Newman, Jamie E., additional, O'Donnell Auman, Jeanette, additional, Crawford, Margaret M., additional, Petrie Huitema, Carolyn M., additional, Zaterka-Baxter, Kristin M., additional, Van Meurs, Krisa P., additional, Stevenson, David K., additional, Ball, M. Bethany, additional, Davis, Alexis S., additional, Palmquist, Andrew W., additional, Proud, Melinda S., additional, Bentley, Barbara, additional, Bruno, Elizabeth, additional, DeAnda, Maria Elena, additional, DeBattista, Anne M., additional, Earhart, Beth, additional, Huffman, Lynne C., additional, Kohn, Jean G., additional, Krueger, Casey, additional, Weiss, Hali E., additional, Frantz, Ivan D., additional, Fiascone, John M., additional, MacKinnon, Brenda L., additional, Furey, Anne, additional, Nylen, Ellen, additional, Carlo, Waldemar A., additional, Ambalavanan, Namasivayam, additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Biasini, Fred J., additional, Johnston, Kristen C., additional, Nelson, Kathleen G., additional, Patterson, Cryshelle S., additional, Phillips, Vivien A., additional, Whitley, Sally, additional, Devaskar, Uday, additional, Garg, Meena, additional, Purdy, Isabell B., additional, Chanlaw, Teresa, additional, Geller, Rachel, additional, Finer, Neil N., additional, Vaucher, Yvonne E., additional, Kaegi, David, additional, Rasmussen, Maynard R., additional, Arnell, Kathy, additional, Demetrio, Clarence, additional, Fuller, Martha G., additional, Rich, Wade, additional, Bell, Edward F., additional, Colaizy, Tarah T., additional, Acarregui, Michael J., additional, Ellsbury, Dan L., additional, Widness, John A., additional, Johnson, Karen J., additional, Campbell, Donia B., additional, Eastman, Diane L., additional, Walker, Jacky R., additional, Brumbaugh, Jane E., additional, Duara, Shahnaz, additional, Bauer, Charles R., additional, Everett-Thomas, Ruth, additional, Fajardo-Hiriart, Sylvia, additional, Rigaud, Arielle, additional, Calejo, Maria, additional, Frade Eguaras, Silvia M., additional, Berkowits, Michelle Harwood, additional, Garcia, Andrea, additional, Pierre, Helina, additional, Stoerger, Alexandra, additional, Watterberg, Kristi L., additional, Lowe, Jean R., additional, Fuller, Janell F., additional, Ohls, Robin K., additional, Lacy, Conra Backstrom, additional, Duncan, Andrea F., additional, Montman, Rebecca, additional, Schmidt, Barbara, additional, Kirpalani, Haresh, additional, DeMauro, Sara B., additional, Chaudhary, Aasma S., additional, Abbasi, Soraya, additional, Mancini, Toni, additional, Cucinotta, Dara M., additional, Bernbaum, Judy C., additional, Gerdes, Marsha, additional, Hurt, Hallam, additional, D'Angio, Carl T., additional, Phelps, Dale L., additional, Guillet, Ronnie, additional, Lakshminrusimha, Satyan, additional, Johnson, Julie Babish, additional, Reubens, Linda J., additional, Horihan, Cassandra A., additional, Hust, Diane, additional, Jensen, Rosemary L., additional, Kushner, Emily, additional, Merzbach, Joan, additional, Myers, Gary J., additional, Rowan, Mary, additional, Wadkins, Holly I.M., additional, Bowman, Melissa, additional, Hunn, Julianne, additional, Guilford, Stephanie, additional, Maffett, Deanna, additional, Osman, Farooq, additional, Prinzing, Diane, additional, Reynolds, Anne Marie, additional, Sacilowski, Michael G., additional, Williams, Ashley, additional, Wynn, Karen, additional, Yost, Kelley, additional, Zorn, William, additional, Zwetsch, Lauren, additional, Kennedy, Kathleen A., additional, Tyson, Jon E., additional, McDavid, Georgia E., additional, Alaniz, Nora I., additional, Arldt-McAlister, Julie, additional, Burson, Katrina, additional, Evans, Patricia W., additional, Garcia, Carmen, additional, Green, Charles, additional, Harris, Beverly Foley, additional, Jiminez, Margarita, additional, John, Janice, additional, Jones, Patrick M., additional, Lillie, Layne M., additional, Lis, Anna E., additional, Martin, Karen, additional, Martin, Sara C., additional, Morris, Brenda H., additional, Poundstone, M. Layne, additional, Robichaux, Peggy, additional, Rodgers, Shawna, additional, Siddiki, Saba, additional, Simmons, Maegan C., additional, Sperry, Daniel, additional, Pierce Tate, Patti L., additional, Wright, Sharon L., additional, Wyckoff, Myra H., additional, Brion, Luc P., additional, Heyne, Roy J., additional, Salhab, Walid A., additional, Rosenfeld, Charles R., additional, Vasil, Diana M., additional, Chen, Lijun, additional, Guzman, Alicia, additional, Hensley, Gaynelle, additional, Leps, Melissa H., additional, Miller, Nancy A., additional, Morgan, Janet S., additional, Adams, Sally S., additional, Boatman, Catherine Twell, additional, Heyne, Elizabeth T., additional, Madden, Linda A., additional, Torres, Lizette E., additional, Faix, Roger G., additional, Yoder, Bradley A., additional, Osborne, Karen A., additional, Spencer, Cynthia, additional, Weaver-Lewis, Kimberlee, additional, Baker, Shawna, additional, Bird, Karie, additional, Burnett, Jill, additional, Steffen, Michael, additional, Jensen, Jennifer J., additional, Winter, Sarah, additional, Zanetti, Karen, additional, O'Shea, T. Michael, additional, Dillard, Robert G., additional, Washburn, Lisa K., additional, Jackson, Barbara G., additional, Peters, Nancy, additional, Chiu, Korinne, additional, Allred, Deborah Evans, additional, Goldstein, Donald J., additional, Halfond, Raquel, additional, Peterson, Carroll, additional, Waldrep, Ellen L., additional, Welch, Cherrie D., additional, Morris, Melissa Whalen, additional, Hounshell, Gail Wiley, additional, Shankaran, Seetha, additional, Pappas, Athina, additional, Barks, John, additional, Bara, Rebecca, additional, Goldston, Laura A., additional, Natarajan, Girija, additional, Christensen, Mary, additional, Wiggins, Stephanie A., additional, White, Diane, additional, Ehrenkranz, Richard A., additional, Jacobs, Harris, additional, Butler, Christine G., additional, Cervone, Patricia, additional, Greisman, Sheila, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, Taft, Janet, additional, Williams, Joanne, additional, and Romano, Elaine, additional
Published: 2019
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31. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.

Author: Marquez, Jonathan, Mann, Nina, Arana, Kathya, Deniz, Engin, Weizhen Ji, Konstantino, Monica, Mis, Emily K., Deshpande, Charu, Jeffries, Lauren, McGlynn, Julie, Hugo, Hannah, Widmeier, Eugen, Konrad, Martin, Tasic, Velibor, Morotti, Raffaella, Baptista, Julia, Ellard, Sian, Lakhani, Saquib Ali, Hildebrandt, Friedhelm, and Khokha, Mustafa K.
Abstract: Background Cilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-known cause of several diseases that affect multiple organ systems including the kidneys, brain, heart, respiratory tract, skeleton and retina. Methods Among individuals from four unrelated families, we identified variants in discs large 5 (DLG5) that manifested in a variety of pathologies. In our proband, we also examined patient tissues. We depleted dlg5 in Xenopus tropicalis frog embryos to generate a loss-of-function model. Finally, we tested the pathogenicity of DLG5 patient variants through rescue experiments in the frog model. Results Patients with variants of DLG5 were found to have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. We also observed a loss of cilia in cystic kidney tissue of our proband. Knockdown of dlg5 in Xenopus embryos recapitulated many of these phenotypes and resulted in a loss of cilia in multiple tissues. Unlike introduction of wildtype DLG5 in frog embryos depleted of dlg5, introduction of DLG5 patient variants was largely ineffective in restoring proper ciliation and tissue morphology in the kidney and brain suggesting that the variants were indeed detrimental to function. Conclusion These findings in both patient tissues and Xenopus shed light on how mutations in DLG5 may lead to tissue-specific manifestations of disease. DLG5 is essential for cilia and many of the patient phenotypes are in the ciliopathy spectrum. [ABSTRACT FROM AUTHOR]
Published: 2021
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32. Novel truncating mutations inCTNND1cause a dominant craniofacial and cardiac syndrome

Author: Alharatani, Reham, primary, Ververi, Athina, additional, Beleza-Meireles, Ana, additional, Ji, Weizhen, additional, Mis, Emily, additional, Patterson, Quinten T., additional, Griffin, John N., additional, Bhujel, Nabina, additional, Chang, Caitlin A., additional, Dixit, Abhijit, additional, Konstantino, Monica, additional, Healy, Christopher, additional, Hannan, Sumayyah, additional, Neo, Natsuko, additional, Cash, Alex, additional, Li, Dong, additional, Bhoj, Elizabeth, additional, Zackai, Elaine H., additional, Cleaver, Ruth, additional, Baralle, Diana, additional, McEntagart, Meriel, additional, Newbury-Ecob, Ruth, additional, Scott, Richard, additional, Hurst, Jane A., additional, Billie Au, Ping Yee, additional, Hosey, Marie Therese, additional, Khokha, Mustafa, additional, Marciano, Denise K., additional, Lakhani, Saquib A., additional, and Liu, Karen J., additional
Published: 2019
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33. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum

Author: Kiraly-Borri, Catherine, primary, Jevon, Gareth, additional, Ji, Weizhen, additional, Jeffries, Lauren, additional, Ricciardi, Jamie-Lee, additional, Konstantino, Monica, additional, Ackerman, Kate G., additional, and Lakhani, Saquib A., additional
Published: 2019
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34. Umbilical venous catheterization and the risk of portal vein thrombosis

Author: Schwartz, Dana S., Gettner, Patricia A., Konstantino, Monica M., Bartley, Christine L., Keller, Marc S., Ehrenkranz, Richard A., and Jacobs, Harris C.
Published: 1997

35. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence.

Author: Mis, Emily K., Al‐Ali, Samir, Ji, Weizhen, Spencer‐Manzon, Michele, Konstantino, Monica, Khokha, Mustafa K., Jeffries, Lauren, and Lakhani, Saquib A.
Abstract: Recessive variants in the GLDN gene, which encodes the gliomedin protein and is involved in nervous system development, have recently been associated with Arthrogryposis Multiplex Congenita (AMC), a heterogenous condition characterized by congenital contractures of more than one joint. Two cohorts of patients with GLDN‐associated AMC have previously been described, evolving the understanding of the condition from lethal to survivable with the provision of significant neonatal support. Here, we describe one additional patient currently living with the syndrome, having one novel variant, p.Leu365Phe, for which we provide functional data supporting its pathogenicity. We additionally provide experimental data for four other previously reported variants lacking functional evidence, including p.Arg393Lys, the second variant present in our patient. We discuss unique and defining clinical features, adding calcium‐related findings which appear to be recurrent in the GLDN cohort. Finally, we compare all previously reported patients and draw new conclusions about scope of illness, with emphasis on the finding of pulmonary hypoplasia, suggesting that AMC secondary to GLDN variants may be best fitted under the umbrella of fetal akinesia deformation sequence (FADS). [ABSTRACT FROM AUTHOR]
Published: 2020
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36. A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome

Author: Elfar, Walaa, primary, Järvinen, Erkka, additional, Ji, Weizhen, additional, Mosorin, Johanna, additional, Sega, Annalisa G., additional, Iuga, Alina C., additional, Lobritto, Steven J., additional, Konstantino, Monica, additional, Chan, Albert, additional, Finel, Moshe, additional, and Lakhani, Saquib A., additional
Published: 2018
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37. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy

Author: Sega, Annalisa G, primary, Mis, Emily K, additional, Lindstrom, Kristin, additional, Mercimek-Andrews, Saadet, additional, Ji, Weizhen, additional, Cho, Megan T, additional, Juusola, Jane, additional, Konstantino, Monica, additional, Jeffries, Lauren, additional, Khokha, Mustafa K, additional, and Lakhani, Saquib Ali, additional
Published: 2018
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38. Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age

Author: Sarkar, Subrata, primary, Shankaran, Seetha, additional, Barks, John, additional, Do, Barbara T., additional, Laptook, Abbot R., additional, Das, Abhik, additional, Ambalavanan, Namasivayam, additional, Van Meurs, Krisa P., additional, Bell, Edward F., additional, Sanchez, Pablo J., additional, Hintz, Susan R., additional, Wyckoff, Myra H., additional, Stoll, Barbara J., additional, Carlo, Waldemar A., additional, Jobe, Alan H., additional, Caplan, Michael S., additional, Polin, Richard A., additional, Keszler, Martin, additional, Oh, William, additional, Vohr, Betty R., additional, Hensman, Angelita M., additional, Alksninis, Barbara, additional, Basso, Kristin M., additional, Burke, Robert, additional, Caskey, Melinda, additional, Johnson, Katharine, additional, Keszler, Mary Lenore, additional, Knoll, Andrea M., additional, Leach, Theresa M., additional, Little, Emilee, additional, McGowan, Elisabeth C., additional, Vieira, Elisa, additional, Watson, Victoria E., additional, Ventura, Suzy, additional, Walsh, Michele C., additional, Fanaroff, Avroy A., additional, Hibbs, Anna Marie, additional, Wilson-Costello, Deanne E., additional, Newman, Nancy S., additional, Payne, Allison H., additional, Siner, Bonnie S., additional, Bhola, Monika, additional, Yalcinkaya, Gulgun, additional, Friedman, Harriet G., additional, Truog, William E., additional, Pallotto, Eugenia K., additional, Kilbride, Howard W., additional, Gauldin, Cheri, additional, Holmes, Anne, additional, Johnson, Kathy, additional, Knutson, Allison, additional, Schibler, Kurt, additional, Donovan, Edward F., additional, Grisby, Cathy, additional, Bridges, Kate, additional, Alexander, Barbara, additional, Fischer, Estelle E., additional, Mincey, Holly L., additional, Hessling, Jody, additional, Gratton, Teresa L., additional, Jackson, Lenora, additional, Kirker, Kristin, additional, Muthig, Greg, additional, Steichen, Jean J., additional, Tepe, Stacey, additional, Mersmann, Marcia Worley, additional, Yolton, Kimberly, additional, Goldberg, Ronald N., additional, Cotten, C. Michael, additional, Goldstein, Ricki F., additional, Ashley, Patricia L., additional, Malcolm, William F., additional, Auten, Kathy J., additional, Fisher, Kimberley A., additional, Grimes, Sandra, additional, Gustafson, Kathryn E., additional, Lohmeyer, Melody B., additional, Finkle, Joanne, additional, Laughon, Matthew M., additional, Bose, Carl L., additional, Bernhardt, Janice, additional, Bose, Gennie, additional, Warner, Diane, additional, Wereszczak, Janice, additional, Carlton, David P., additional, Adams-Chapman, Ira, additional, Hale, Ellen C., additional, Loggins, Yvonne, additional, Blackwelder, Ann M., additional, Bottcher, Diane I., additional, Mackie, Colleen, additional, Higgins, Rosemary D., additional, Archer, Stephanie Wilson, additional, Sokol, Gregory M., additional, Poindexter, Brenda B., additional, Lemons, James A., additional, Dusick, Anna M., additional, Papile, Lu-Ann, additional, Lytle, Carolyn, additional, Hines, Abbey C., additional, Minnich, Heike M., additional, Herron, Dianne E., additional, Smiley, Lucy, additional, Gunn, Susan, additional, Wilson, Leslie Dawn, additional, Kennedy, Kathleen A., additional, Tyson, Jon E., additional, McDavid, Georgia E., additional, Akpa, Esther G., additional, Arldt-McAlister, Julie, additional, Alaniz, Nora I., additional, Burson, Katrina, additional, Bradt, Pamela J., additional, Dieterich, Susan, additional, Dempsey, Allison, additional, Duncan, Andrea F., additional, Evans, Patricia W., additional, Franco, Claudia I., additional, Garcia, Carmen, additional, Green, Charles, additional, Harris, Beverly Foley, additional, Jiminez, Margarita, additional, John, Janice, additional, Jones, Patrick M., additional, Lillie, Layne M., additional, Lis, Anna E., additional, Major-Kincade, Terri, additional, Martin, Karen, additional, Martin, Sara C., additional, Morris, Brenda H., additional, Orekoya, Patricia Ann, additional, Reddoch, Stacey, additional, Rodgers, Shawna, additional, Siddiki, Saba, additional, Simmons, Maegan C., additional, Sperry, Daniel, additional, Tate, Patti L. Pierce, additional, Whitely, Laura L., additional, Wright, Sharon L., additional, Nelin, Leif D., additional, Jadcherla, Sudarshan R., additional, Luzader, Patricia, additional, Fortney, Christine A., additional, Besner, Gail E., additional, Parikh, Nehal A., additional, Wallace, Dennis, additional, Gantz, Marie G., additional, Poole, W. Kenneth, additional, Crawford, Margaret M., additional, Gabrio, Jenna, additional, Hastings, Betty K., additional, Newman, Jamie E., additional, O'Donnell Auman, Jeanette, additional, Huitema, Carolyn M. Petrie, additional, Zaterka-Baxter, Kristin M., additional, Stevenson, David K., additional, Ball, M. Bethany, additional, Adams, Marian M., additional, Davis, Alexis S., additional, Palmquist, Andrew W., additional, Proud, Melinda S., additional, Bentley, Barbara, additional, Bruno, Elizabeth, additional, DeAnda, Maria Elena, additional, DeBattista, Anne M., additional, Earhart, Beth, additional, Huffman, Lynne C., additional, Kohn, Jean G., additional, Krueger, Casey, additional, Weiss, Hali E., additional, Frantz, Ivan D., additional, Fiascone, John M., additional, MacKinnon, Brenda L., additional, Furey, Anne, additional, Nylen, Ellen, additional, Peralta-Carcelen, Myriam, additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Biasini, Fred J., additional, Johnston, Kristen C., additional, Nelson, Kathleen G., additional, Patterson, Cryshelle S., additional, Phillips, Vivien A., additional, Whitley, Sally, additional, Devaskar, Uday, additional, Garg, Meena, additional, Purdy, Isabell B., additional, Chanlaw, Teresa, additional, Geller, Rachel, additional, Finer, Neil N., additional, Kaegi, David, additional, Rasmussen, Maynard R., additional, Wozniak, Paul R., additional, Arnell, Kathy, additional, Demetrio, Clarence, additional, Fuller, Martha G., additional, Henderson, Chris, additional, Rich, Wade, additional, Vaucher, Yvonne E., additional, Colaizy, Tarah T., additional, Acarregui, Michael J., additional, Brumbaugh, Jane E., additional, Ellsbury, Dan L., additional, Widness, John A., additional, Johnson, Karen J., additional, Campbell, Donia B., additional, Eastman, Diane L., additional, Krutzfield, Nancy J., additional, Duara, Shahnaz, additional, Bauer, Charles R., additional, Everett-Thomas, Ruth, additional, Fajardo-Hiriart, Sylvia, additional, Rigaud, Arielle, additional, Calejo, Maria, additional, Eguaras, Silvia M. Frade, additional, Berkowits, Michelle Harwood, additional, Garcia, Andrea, additional, Pierre, Helina, additional, Stoerger, Alexandra, additional, Watterberg, Kristi L., additional, Lowe, Jean R., additional, Dupont, Tara, additional, Fuller, Janell F., additional, Ohls, Robin K., additional, Lacy, Conra Backstrom, additional, Montman, Rebecca, additional, Schmidt, Barbara, additional, Kirpalani, Haresh, additional, DeMauro, Sara B., additional, Chaudhary, Aasma S., additional, Abbasi, Soraya, additional, Mancini, Toni, additional, Cucinotta, Dara M., additional, Bernbaum, Judy C., additional, Gerdes, Marsha, additional, Hurt, Hallam, additional, Cook, Noah, additional, D'Angio, Carl T., additional, Phelps, Dale L., additional, Guillet, Ronnie, additional, Lakshminrusimha, Satyan, additional, Johnson, Julie Babish, additional, Burnell, Erica, additional, Reubens, Linda J., additional, Horihan, Cassandra A., additional, Jensen, Rosemary L., additional, Kushner, Emily, additional, Merzbach, Joan, additional, Myers, Gary J., additional, Rowan, Mary, additional, Wadkins, Holly I.M., additional, Scorsone, Anne Marie, additional, Bowman, Melissa, additional, Hunn, Julianne, additional, Guilford, Stephanie, additional, Maffett, Deanna, additional, Farooq, Osman, additional, Prinzing, Diane, additional, Reynolds, Anne Marie, additional, Sacilowski, Michael G., additional, Williams, Ashley, additional, Wynn, Karen, additional, Yost, Kelley, additional, Zorn, William, additional, Zwetsch, Lauren, additional, Brion, Luc P., additional, Broyles, R. Sue, additional, Heyne, Roy J., additional, Ipson, Merle, additional, Salhab, Walid A., additional, Rosenfeld, Charles R., additional, Vasil, Diana M., additional, Chen, Lijun, additional, Guzman, Alicia, additional, Hensley, Gaynelle, additional, Hickman, Jackie F., additional, Leps, Melissa H., additional, Madison, Susie, additional, Miller, Nancy A., additional, Morgan, Janet S., additional, Pavageau, Lara, additional, Adams, Sally S., additional, Dooley, Cristin, additional, Heyne, Elizabeth T., additional, Lee, Lizette E., additional, Madden, Linda A., additional, Boatman, Catherine Twell, additional, Faix, Roger G., additional, Yoder, Bradley A., additional, Osborne, Karen A., additional, Spencer, Cynthia, additional, Weaver-Lewis, Kimberlee, additional, Baker, Shawna, additional, Bird, Karie, additional, Burnett, Jill, additional, Steffen, Michael, additional, Jensen, Jennifer J., additional, Winter, Sarah, additional, Zanetti, Karen, additional, O'Shea, T. Michael, additional, Dillard, Robert G., additional, Washburn, Lisa K., additional, Jackson, Barbara G., additional, Peters, Nancy J., additional, Chiu, Korinne, additional, Allred, Deborah Evans, additional, Goldstein, Donald J., additional, Halfond, Raquel, additional, Peterson, Carroll, additional, Waldrep, Ellen L., additional, Welch, Cherrie D., additional, Morris, Melissa Whalen, additional, Hounshell, Gail Wiley, additional, Pappas, Athina, additional, Bara, Rebecca, additional, Goldston, Laura A., additional, Muran, Geraldine, additional, Natarajan, Girija, additional, Christensen, Mary, additional, Wiggins, Stephanie A., additional, White, Diane, additional, Ehrenkranz, Richard A., additional, Jacobs, Harris, additional, Butler, Christine G., additional, Cervone, Patricia, additional, Gettner, Patricia, additional, Greisman, Sheila, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, Romano, Elaine, additional, Taft, Janet, additional, and Williams, Joanne, additional
Published: 2018
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39. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history

Author: Jeffries, Lauren, primary, Shima, Hirohito, additional, Ji, Weizhen, additional, Panisello‐Manterola, David, additional, McGrath, James, additional, Bird, Lynne M., additional, Konstantino, Monica, additional, Narumi, Satoshi, additional, and Lakhani, Saquib, additional
Published: 2017
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40. DLG5variants are associated with multiple congenital anomalies including ciliopathy phenotypes

Author: Marquez, Jonathan, Mann, Nina, Arana, Kathya, Deniz, Engin, Ji, Weizhen, Konstantino, Monica, Mis, Emily K, Deshpande, Charu, Jeffries, Lauren, McGlynn, Julie, Hugo, Hannah, Widmeier, Eugen, Konrad, Martin, Tasic, Velibor, Morotti, Raffaella, Baptista, Julia, Ellard, Sian, Lakhani, Saquib Ali, Hildebrandt, Friedhelm, and Khokha, Mustafa K
Abstract: BackgroundCilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-known cause of several diseases that affect multiple organ systems including the kidneys, brain, heart, respiratory tract, skeleton and retina.MethodsAmong individuals from four unrelated families, we identified variants in discs large 5(DLG5)that manifested in a variety of pathologies. In our proband, we also examined patient tissues. We depleted dlg5in Xenopus tropicalisfrog embryos to generate a loss-of-function model. Finally, we tested the pathogenicity of DLG5patient variants through rescue experiments in the frog model.ResultsPatients with variants of DLG5were found to have a variety of phenotypes including cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations. We also observed a loss of cilia in cystic kidney tissue of our proband. Knockdown of dlg5in Xenopusembryos recapitulated many of these phenotypes and resulted in a loss of cilia in multiple tissues. Unlike introduction of wildtype DLG5in frog embryos depleted of dlg5,introduction of DLG5patient variants was largely ineffective in restoring proper ciliation and tissue morphology in the kidney and brain suggesting that the variants were indeed detrimental to function.ConclusionThese findings in both patient tissues and Xenopusshed light on how mutations in DLG5may lead to tissue-specific manifestations of disease. DLG5 is essential for cilia and many of the patient phenotypes are in the ciliopathy spectrum.
Published: 2021
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41. Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort

Author: Di Fiore, Juliann M., primary, Martin, Richard J., additional, Li, Hong, additional, Morris, Nathan, additional, Carlo, Waldemar A., additional, Finer, Neil, additional, Walsh, Michele, additional, Jobe, Alan H., additional, Caplan, Michael S., additional, Polin, Richard A., additional, Laptook, Abbot R., additional, Oh, William, additional, Hensman, Angelita M., additional, Gingras, Dan, additional, Barnett, Susan, additional, Lillie, Sarah, additional, Francis, Kim, additional, Andrews, Dawn, additional, Angela, Kristen, additional, Fanaroff, Avroy A., additional, Newman, Nancy S., additional, Siner, Bonnie S., additional, Zadell, Arlene, additional, Schibler, Kurt, additional, Donovan, Edward F., additional, Bridges, Kate, additional, Alexander, Barbara, additional, Grisby, Cathy, additional, Mersmann, Marcia Worley, additional, Mincey, Holly L., additional, Hessling, Jody, additional, Goldberg, Ronald N., additional, Cotten, C. Michael, additional, Wallace, David K., additional, Freedman, Sharon F., additional, Auten, Kathy J., additional, Fisher, Kimberly A., additional, Foy, Katherine A., additional, Stoll, Barbara J., additional, Piazza, Anthony J., additional, Buchter, Susie, additional, Carlton, David P., additional, Hutchinson, Amy K., additional, Hale, Ellen C., additional, Higgins, Rosemary D., additional, Archer, Stephanie Wilson, additional, Poindexter, Brenda B., additional, Lemons, James A., additional, Hamer, Faithe, additional, Herron, Dianne E., additional, Miller, Lucy C., additional, Wilson, Leslie D., additional, Berberich, Mary Anne, additional, Blaisdell, Carol J., additional, Gail, Dorothy B., additional, Kiley, James P., additional, Gantz, Marie G., additional, Das, Abhik, additional, Crawford, Margaret M., additional, Hastings, Betty K., additional, Irene, Amanda R., additional, O'Donnell Auman, Jeanette, additional, Huitema, Carolyn Petrie, additional, Pickett, James W., additional, Wallace, Dennis, additional, Zaterka-Baxter, Kristin M., additional, Van Meurs, Krisa P., additional, Stevenson, David K., additional, Ball, M. Bethany, additional, Proud, Melinda S., additional, Frantz, Ivan D., additional, Fiascone, John M., additional, Furey, Anne, additional, MacKinnon, Brenda L., additional, Nylen, Ellen, additional, Ambalavanan, Namasivayam, additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Phillips, Vivien A., additional, Rasmussen, Maynard R., additional, Wozniak, Paul R., additional, Rich, Wade, additional, Arnell, Kathy, additional, Bridge, Renee, additional, Demetrio, Clarence, additional, Bell, Edward F., additional, Widness, John A., additional, Klein, Jonathan M., additional, Johnson, Karen J., additional, Duara, Shahnaz, additional, Everett-Thomas, Ruth, additional, Watterberg, Kristi L., additional, Ohls, Robin K., additional, Rohr, Julie, additional, Lacy, Conra Backstrom, additional, Phelps, Dale L., additional, Laroia, Nirupama, additional, Markowitz, Gary David, additional, Reubens, Linda J., additional, Burnell, Erica, additional, Sánchez, Pablo J., additional, Rosenfeld, Charles R., additional, Salhab, Walid A., additional, Allen, James, additional, Grau, Laura, additional, Guzman, Alicia, additional, Hensley, Gaynelle, additional, Lepps, Melissa H., additional, Martin, Melissa, additional, Miller, Nancy A., additional, Solis, Araceli, additional, Vasil, Diana M, additional, Wilder, Kerry, additional, Kennedy, Kathleen A., additional, Tyson, Jon E., additional, Morris, Brenda H., additional, Harris, Beverly Foley, additional, Lis, Anna E., additional, Martin, Sarah, additional, McDavid, Georgia E., additional, Tate, Patti L., additional, Wright, Sharon L., additional, Yoder, Bradley A., additional, Faix, Roger G., additional, Burnett, Jill, additional, Jensen, Jennifer J., additional, Osborne, Karen A., additional, Spencer, Cynthia, additional, Weaver-Lewis, Kimberlee, additional, O'Shea, T. Michael, additional, Peters, Nancy J., additional, Shankaran, Seetha, additional, Sood, Beena G., additional, Bara, Rebecca, additional, Billian, Elizabeth, additional, Johnson, Mary, additional, Ehrenkranz, Richard A., additional, Narendran, Vivek, additional, Bhandari, Vineet, additional, Jacobs, Harris C., additional, Cervone, Pat, additional, Gettner, Patricia, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, and Taft, Janet, additional
Published: 2017
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42. Association between Use of Prophylactic Indomethacin and the Risk for Bronchopulmonary Dysplasia in Extremely Preterm Infants

Author: Jensen, Erik A., primary, Dysart, Kevin C., additional, Gantz, Marie G., additional, Carper, Benjamin, additional, Higgins, Rosemary D., additional, Keszler, Martin, additional, Laughon, Matthew M., additional, Poindexter, Brenda B., additional, Stoll, Barbara J., additional, Walsh, Michele C., additional, Schmidt, Barbara, additional, Caplan, Michael S., additional, Polin, Richard A., additional, Laptook, Abbot R., additional, Hensman, Angelita M., additional, Basso, Kristin M., additional, Vieira, Elisa, additional, Little, Emily, additional, Fanaroff, Avroy A., additional, Hibbs, Anna Marie, additional, Newman, Nancy S., additional, Truog, William E., additional, Kilbride, Howard W., additional, Pallotto, Eugenia K., additional, Gauldin, Cheri, additional, Holmes, Anne, additional, Johnson, Kathy, additional, Knutson, Allison, additional, Schibler, Kurt, additional, Donovan, Edward F., additional, Alexander, Barbara, additional, Grisby, Cathy, additional, Hessling, Jody, additional, Fischer, Estelle E., additional, Jackson, Lenora D., additional, Kirker, Kristin, additional, Muthig, Greg, additional, Goldberg, Ronald N., additional, Cotten, C. Michael, additional, Fisher, Kimberley A., additional, Auten, Kathy J., additional, Foy, Katherine A., additional, Grimes, Sandra, additional, Finkle, Joanne, additional, Bose, Carl L., additional, Bernhardt, Janice, additional, Bose, Gennie, additional, Carlton, David P., additional, Hale, Ellen C., additional, Archer, Stephanie Wilson, additional, Sokol, Gregory M., additional, Wilson, Leslie Dawn, additional, Herron, Dianne E., additional, Sánchez, Pablo J., additional, Nelin, Leif D., additional, Jadcherla, Sudarshan R., additional, Luzader, Patricia, additional, Fortney, Christine A., additional, Besner, Gail E., additional, Parikh, Nehal A., additional, Das, Abhik, additional, Wallace, Dennis, additional, Auman, Jeanette O'Donnell, additional, Crawford, Margaret M., additional, Petrie Huitema, Carolyn M., additional, Zaterka-Baxter, Kristin M., additional, Van Meurs, Krisa P., additional, Adams, Marian M., additional, Stevenson, David K., additional, Ball, M. Bethany, additional, Palmquist, Andrew W., additional, Proud, Melinda S., additional, Frantz, Ivan D., additional, Fiascone, John M., additional, MacKinnon, Brenda L., additional, Nylen, Ellen, additional, Carlo, Waldemar A., additional, Ambalavanan, Namasivayam, additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Devaskar, Uday, additional, Garg, Meena, additional, Chanlaw, Teresa, additional, Geller, Rachel, additional, Bell, Edward F., additional, Ellsbury, Dan L., additional, Widness, John A., additional, Johnson, Karen J., additional, Campbell, Donia B., additional, Watterberg, Kristi L., additional, Ohls, Robin K., additional, Lacy, Conra Backstrom, additional, Montman, Rebecca A., additional, Brown, Sandra, additional, Wussow, Theresa, additional, Hartenberger, Carol, additional, Kirpalani, Haresh, additional, DeMauro, Sara B., additional, Chaudhary, Aasma S., additional, Abbasi, Soraya, additional, Mancini, Toni, additional, Cucinotta, Dara M., additional, D'Angio, Carl T., additional, Guillet, Ronnie, additional, Lakshminrusimha, Satyan, additional, Reynolds, Ann Marie, additional, Reubens, Linda J., additional, Jensen, Rosemary, additional, Maffett, Deana, additional, Wadkins, Holly I.M., additional, Sacilowski, Michael G., additional, Williams, Ashley, additional, Guilford, Stephanie, additional, Horihan, Cassandra A., additional, Kennedy, Kathleen A., additional, Tyson, Jon E., additional, Burson, Katrina, additional, Harris, Beverly Foley, additional, McDavid, Georgia E., additional, Pierce Tate, Patti L., additional, Wright, Sharon L., additional, Brion, Luc P., additional, Chen, Lijun, additional, Guzman, Alicia, additional, Leps, Melissa H., additional, Miller, Nancy A., additional, Morgan, Janet S., additional, Vasil, Diana M., additional, Torres, Lizette E., additional, Faix, Roger G., additional, Yoder, Bradley A., additional, Osborne, Karen A., additional, Bird, Karie, additional, Burnett, Jill, additional, Jensen, Jennifer J., additional, Spencer, Cynthia, additional, Weaver-Lewis, Kimberlee, additional, Zanetti, Karen, additional, Shankaran, Seetha, additional, Barks, John, additional, Bara, Rebecca, additional, Johnson, Mary, additional, Christensen, Mary, additional, Wiggins, Stephanie, additional, Ehrenkranz, Richard A., additional, Jacobs, Harris, additional, Cervone, Patricia, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, and Taft, Janet, additional
Published: 2017
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43. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Author: Sega, Annalisa G., Mis, Emily K., Lindstrom, Kristin, Mercimek-Andrews, Saadet, Weizhen Ji, Cho, Megan T., Juusola, Jane, Konstantino, Monica, Jeffries, Lauren, Khokha, Mustafa K., and Lakhani, Saquib Ali
Abstract: Background Early infantile epileptic encephalopathies are severe disorders consisting of early-onset refractory seizures accompanied often by significant developmental delay. The increasing availability of next-generation sequencing has facilitated the recognition of single gene mutations as an underlying aetiology of some forms of early infantile epileptic encephalopathies. Objectives This study was designed to identify candidate genes as a potential cause of early infantile epileptic encephalopathy, and then to provide genetic and functional evidence supporting patient variants as causative. Methods We used whole exome sequencing to identify candidate genes. To model the disease and assess the functional effects of patient variants on candidate protein function, we used in vivo CRISPR/Cas9-mediated genome editing and protein overexpression in frog tadpoles. Results We identified novel de novo variants in neuronal differentiation factor 2 (NEUROD2) in two unrelated children with early infantile epileptic encephalopathy. Depleting neurod2 with CRISPR/Cas9-mediated genome editing induced spontaneous seizures in tadpoles, mimicking the patients' condition. Overexpression of wild-type NEUROD2 induced ectopic neurons in tadpoles; however, patient variants were markedly less effective, suggesting that both variants are dysfunctional and likely pathogenic. Conclusion This study provides clinical and functional support for NEUROD2 variants as a cause of early infantile epileptic encephalopathy, the first evidence of human disease caused by NEUROD2 variants. [ABSTRACT FROM AUTHOR]
Published: 2019
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44. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Author: Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Banka, Siddharth, Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E., Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.
Abstract: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor–like domains 1 (CRELD1) gene variants.
Published: 2024
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45. Growth Outcomes of Preterm Infants Exposed to Different Oxygen Saturation Target Ranges from Birth

Author: Navarrete, Cristina T., primary, Wrage, Lisa A., additional, Carlo, Waldemar A., additional, Walsh, Michele C., additional, Rich, Wade, additional, Gantz, Marie G., additional, Das, Abhik, additional, Schibler, Kurt, additional, Newman, Nancy S., additional, Piazza, Anthony J., additional, Poindexter, Brenda B., additional, Shankaran, Seetha, additional, Sánchez, Pablo J., additional, Morris, Brenda H., additional, Frantz, Ivan D., additional, Van Meurs, Krisa P., additional, Cotten, C. Michael, additional, Ehrenkranz, Richard A., additional, Bell, Edward F., additional, Watterberg, Kristi L., additional, Higgins, Rosemary D., additional, Duara, Shahnaz, additional, Gantz, Marie, additional, Jobe, Alan H., additional, Caplan, Michael S., additional, Fanaroff, Avroy A., additional, Wilson-Costello, Deanne E., additional, Siner, Bonnie S., additional, Zadell, Arlene, additional, DiFiore, Julie, additional, Bhola, Monika, additional, Friedman, Harriet G., additional, Yalcinkaya, Gulgun, additional, Donovan, Edward F., additional, Narendran, Vivek, additional, Yolton, Kimberly, additional, Bridges, Kate, additional, Alexander, Barbara, additional, Grisby, Cathy, additional, Mersmann, Marcia Worley, additional, Mincey, Holly L., additional, Hessling, Jody, additional, Gratton, Teresa L., additional, Goldberg, Ronald N., additional, Goldstein, Ricki F., additional, Ashley, Patricia, additional, Auten, Kathy J., additional, Fisher, Kimberley A., additional, Foy, Katherine A., additional, Freedman, Sharon F., additional, Gustafson, Kathryn E., additional, Lohmeyer, Melody B., additional, Malcolm, William F., additional, Wallace, David K., additional, Stoll, Barbara J., additional, Adams-Chapman, Ira, additional, Buchter, Susie, additional, Carlton, David P., additional, Carter, Sheena, additional, Fritz, Sobha, additional, Hale, Ellen C., additional, Hutchinson, Amy K., additional, LaRossa, Maureen Mulligan, additional, Smikle, Gloria V., additional, Archer, Stephanie Wilson, additional, Dusick, Anna M., additional, Lemons, James A., additional, Myers, Gary J., additional, Wilson, Leslie D., additional, Hamer, Faithe, additional, Cook, Ann B., additional, Herron, Dianne E., additional, Lytle, Carolyn, additional, Minnich, Heike M., additional, Berberich, Mary Anne, additional, Blaisdell, Carol J., additional, Gail, Dorothy B., additional, Kiley, James P., additional, Poole, W. Kenneth, additional, Newman, Jamie E., additional, Hastings, Betty K., additional, O'Donnell Auman, Jeanette, additional, Huitema, Carolyn Petrie, additional, Pickett, James W., additional, Wallace, Dennis, additional, Zaterka-Baxter, Kristin M., additional, Stevenson, David K., additional, Hintz, Susan R., additional, Ball, M. Bethany, additional, Bentley, Barbara, additional, Bruno, Elizabeth F., additional, Davis, Alexis S., additional, DeAnda, Maria Elena, additional, DeBattista, Anne M., additional, Huffman, Lynne C., additional, Kohn, Jean G., additional, Proud, Melinda S., additional, Pyle, Renee P., additional, St. John, Nicholas H., additional, Weiss, Hali E., additional, Fiascone, John M., additional, McGowan, Elisabeth C., additional, Furey, Anne, additional, MacKinnon, Brenda L., additional, Nylen, Ellen, additional, Brussa, Ana, additional, Sibley, Cecelia, additional, Ambalavanan, Namasivayam, additional, Peralta-Carcelen, Myriam, additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Phillips, Vivien A., additional, Bailey, Kirstin J., additional, Biasini, Fred J., additional, Hopkins, Maria, additional, Johnston, Kristen C., additional, Krzywanski, Sara, additional, Nelson, Kathleen G., additional, Patterson, Cryshelle S., additional, Rector, Richard V., additional, Rodriguez, Leslie, additional, Soong, Amanda, additional, Whitley, Sally, additional, York, Sheree, additional, Widness, John A., additional, Acarregui, Michael J., additional, Klein, Jonathan M., additional, Colaizy, Tarah T., additional, Johnson, Karen J., additional, Eastman, Diane L., additional, Bauer, Charles R., additional, Everett-Thomas, Ruth, additional, Calejo, Maria, additional, Diaz, Alexis N., additional, Frade Eguaras, Silvia M., additional, Garcia, Andrea, additional, Hamlin-Smith, Kasey, additional, Berkowits, Michelle Harwood, additional, Hiriart-Fajardo, Sylvia, additional, Pierre, Helina, additional, Rigaud, Arielle, additional, Stroerger, Alexandra, additional, Ohls, Robin K., additional, Fuller, Janell, additional, Rohr, Julie, additional, Lacy, Conra Backstrom, additional, Lowe, Jean, additional, Montman, Rebecca, additional, Brion, Luc, additional, Rosenfeld, Charles R., additional, Salhab, Walid A., additional, Heyne, Roy J., additional, Adams, Sally S., additional, Allen, James, additional, Chen, Lijun, additional, Grau, Laura, additional, Guzman, Alicia, additional, Hensley, Gaynelle, additional, Heyne, Elizabeth T., additional, Hickman, Jackie, additional, Lepps, Melissa H., additional, Madden, Linda A., additional, Miller, Nancy A., additional, Morgan, Janet S., additional, Solis, Araceli, additional, Torres, Lizette E., additional, Boatman, Catherine Twell, additional, Vasil, Diana M, additional, Kennedy, Kathleen A., additional, Tyson, Jon E., additional, Akpa, Esther G., additional, Alaniz, Nora I., additional, Dieterich, Susan, additional, Evans, Patricia W., additional, Green, Charles, additional, Harris, Beverly Foley, additional, Jiminez, Margarita, additional, Lis, Anna E., additional, Martin, Karen, additional, Martin, Sarah, additional, McDavid, Georgia E., additional, Poundstone, M. Layne, additional, Reddoch, Stacey, additional, Siddiki, Saba, additional, Simmons, Maegan C., additional, Pierce Tate, Patti L., additional, Wright, Sharon L., additional, Sood, Beena G., additional, Pappas, Athina, additional, Bara, Rebecca, additional, Billian, Elizabeth, additional, Goldston, Laura A., additional, Johnson, Mary, additional, Bhandari, Vineet, additional, Jacobs, Harris C., additional, Cervone, Pat, additional, Gettner, Patricia, additional, Konstantino, Monica, additional, Poulsen, JoAnn, additional, Taft, Janet, additional, Butler, Christine G., additional, Close, Nancy, additional, Gilliam, Walter, additional, Greisman, Sheila, additional, Romano, Elaine, additional, and Williams, Joanne, additional
Published: 2016
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46. Impact of Optimized Breastfeeding on the Costs of Necrotizing Enterocolitis in Extremely Low Birthweight Infants

Author: Colaizy, Tarah T., primary, Bartick, Melissa C., additional, Jegier, Briana J., additional, Green, Brittany D., additional, Reinhold, Arnold G., additional, Schaefer, Andrew J., additional, Bogen, Debra L., additional, Schwarz, Eleanor Bimla, additional, Stuebe, Alison M., additional, Jobe, Alan H., additional, Oh, William, additional, Vohr, Betty R., additional, Walden, Rachel V., additional, Alksninis, Barbara, additional, Hensman, Angelita M., additional, Leonard, Martha R., additional, Noel, Lucy, additional, Leach, Teresa M., additional, Watson, Victoria E., additional, Fanaroff, Avroy A., additional, Walsh, Michele C., additional, Wilson-Costello, Deanne E., additional, Newman, Nancy S., additional, Siner, Bonnie S., additional, Friedman, Harriet G., additional, Donovan, Edward F., additional, Schibler, Kurt, additional, Steichen, Jean J., additional, Alexander, Barbara, additional, Grisby, Cathy, additional, Mersmann, Marcia Worley, additional, Mincey, Holly L., additional, Hessling, Jody, additional, Gratton, Teresa L., additional, Stoll, Barbara J., additional, Adams-Chapman, Ira, additional, Hale, Ellen C., additional, LaRossa, Maureen Mulligan, additional, Carter, Sheena, additional, Higgins, Rosemary D., additional, Wright, Linda L., additional, McClure, Elizabeth M., additional, Poindexter, Brenda B., additional, Lemons, James A., additional, Dusick, Anna M., additional, Kardatzke, Darlene, additional, Lytle, Carolyn, additional, Appel, Diana D., additional, Bohnke, Lon G., additional, Eaken, Greg, additional, Herron, Dianne E., additional, Miller, Lucy C., additional, Richard, Leslie, additional, Wilson, Leslie Dawn, additional, Das, Abhik, additional, Poole, W. Kenneth, additional, Wrage, Lisa Ann, additional, Hastings, Betty K., additional, O'Donnell Auman, Jeanette, additional, Taylor, Sarah, additional, Stevenson, David K., additional, Hintz, Susan R., additional, Ball, M. Bethany, additional, Kohn, Jean G., additional, Baran, Joan M., additional, Lee-Ancajas, Julie C., additional, St. John, Nicholas H., additional, Carlo, Waldemar A., additional, Ambalavanan, Namasivayam, additional, Nelson, Kathleen G., additional, Peralta-Carcelen, Myriam, additional, Bailey, Kirstin J., additional, Biasini, Fred J., additional, Chopko, Stephanie A., additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Phillips, Vivien A., additional, Rector, Richard V., additional, Finer, Neil N., additional, Vaucher, Yvonne E., additional, Anderson, Jack M., additional, Rasmussen, Maynard R., additional, Arnell, Kathy, additional, Demetrio, Clarence, additional, Fuller, Martha G., additional, Henderson, Christopher, additional, Posin, Donna, additional, Bell, Edward F., additional, Colaizy, Tarah T., additional, Bauer, Charles R., additional, Duara, Shahnaz, additional, Worth, Amy Mur, additional, Everett-Thomas, Ruth, additional, Diaz, Alexis N., additional, Mathews, Elaine O., additional, Hamlin-Smith, Kasey, additional, Jean-Gilles, Lisa, additional, Calejo, Maria, additional, Frade, Silvia M., additional, Hiriart-Fajardo, Silvia, additional, Gideon, Yamiley, additional, Korones, Sheldon B., additional, Bada, Henrietta S., additional, Hudson, Tina, additional, Yolton, Kimberly, additional, Williams, Marilyn G., additional, Laptook, Abbot R., additional, Salhab, Walid A., additional, Broyles, R. Sue, additional, Madison, Susie, additional, Hickman, Jackie F., additional, Guzman, Alicia, additional, Adams, Sally S., additional, Madden, Linda A., additional, Heyne, Elizabeth T., additional, Dooley, Cristin, additional, Shankaran, Seetha, additional, Delaney-Black, Virginia, additional, Johnson, Yvette R., additional, Bara, Rebecca, additional, Muran, Geraldine, additional, Kennedy, Deborah, additional, Goldston, Laura A., additional, Ehrenkranz, Richard A., additional, Gettner, Patricia, additional, Konstantino, Monica, additional, Romano, Elaine, additional, Close, Nancy, additional, Gilliam, Walter S., additional, and Poulsen, JoAnn, additional
Published: 2016
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47. Blood Cytokine Profiles Associated with Distinct Patterns of Bronchopulmonary Dysplasia among Extremely Low Birth Weight Infants

Author: D'Angio, Carl T., primary, Ambalavanan, Namasivayam, additional, Carlo, Waldemar A., additional, McDonald, Scott A., additional, Skogstrand, Kristin, additional, Hougaard, David M., additional, Shankaran, Seetha, additional, Goldberg, Ronald N., additional, Ehrenkranz, Richard A., additional, Tyson, Jon E., additional, Stoll, Barbara J., additional, Das, Abhik, additional, Higgins, Rosemary D., additional, Jobe, Alan H., additional, Laptook, Abbot R., additional, Oh, William, additional, Rubin, Lewis P., additional, Hensman, Angelita M., additional, Fanaroff, Avroy A., additional, Walsh, Michele C., additional, Newman, Nancy S., additional, Siner, Bonnie S., additional, Donovan, Edward F., additional, Narendran, Vivek, additional, Alexander, Barbara, additional, Grisby, Cathy, additional, Hessling, Jody, additional, Mersmann, Marcia Worley, additional, Mincey, Holly L., additional, Cotten, C. Michael, additional, Auten, Kathy J., additional, Hale, Ellen C., additional, Wright, Linda L., additional, Yaffe, Sumner J., additional, McClure, Elizabeth M., additional, Poindexter, Brenda B., additional, Lemons, James A., additional, Appel, Diana D., additional, Herron, Dianne E., additional, Wilson, Leslie D., additional, Poole, W. Kenneth, additional, Hastings, Betty K., additional, Zaterka-Baxter, Kristin M., additional, O'Donnell Auman, Jeanette, additional, Schaefer, Scott E., additional, Stevenson, David K., additional, Van Meurs, Krisa P., additional, Ball, M. Bethany, additional, Collins, Monica V., additional, Cosby, Shirley S., additional, Finer, Neil N., additional, Rasmussen, Maynard R., additional, Kaegi, David, additional, Arnell, Kathy, additional, Demetrio, Clarence, additional, Rich, Wade, additional, Bauer, Charles R., additional, Duara, Shahnaz, additional, Everett-Thomas, Ruth, additional, Papile, Lu-Ann, additional, Lacy, Conra Backstrom, additional, Korones, Sheldon B., additional, Bada, Henrietta S., additional, Hudson, Tina, additional, Salhab, Walid A., additional, Madison, Susie, additional, Kennedy, Kathleen A., additional, Morris, Brenda H., additional, Akpa, Esther G., additional, Cluff, Patty A., additional, Franco, Claudia I., additional, Lis, Anna E., additional, McDavid, Georgia E., additional, Tate, Patti Pierce, additional, O'Shea, T. Michael, additional, Peters, Nancy J., additional, Konduri, G. Ganesh, additional, Bara, Rebecca, additional, Muran, Geraldine, additional, Gettner, Patricia, additional, Konstantino, Monica, additional, and Poulsen, JoAnn, additional
Published: 2016
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48. A novel <italic>SAMD9</italic> mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history.

Author: Jeffries, Lauren, Shima, Hirohito, Ji, Weizhen, Panisello‐Manterola, David, McGrath, James, Bird, Lynne M., Konstantino, Monica, Narumi, Satoshi, and Lakhani, Saquib
Abstract: Germline gain‐of‐function variants in SAMD9 have been associated with a high risk of mortality and a newly recognized constellation of symptoms described by the acronym MIRAGE: Myelodysplasia, Infection, Restriction of growth, Adrenal insufficiency, Genital phenotypes, and Enteropathy. Here, we describe two additional patients currently living with the syndrome, including one patient with a novel de novo variant for which we provide functional data supporting its pathogenicity. We discuss features of dysmorphology, contrasting with previously described patients as well as drawing attention to additional clinical features, dysautonomia and hearing loss that have not previously been reported. We detail both patients’ courses following diagnosis, with attention to treatment plans and recommended specialist care. Our patients are the oldest known with arginine‐substituting amino acid variants, and we conclude that early diagnosis and multidisciplinary management may positively impact outcomes for this vulnerable group of patients. [ABSTRACT FROM AUTHOR]
Published: 2018
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49. A Novel Pathogenic UGT1A1Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome

Author: Elfar, Walaa, Ja¨rvinen, Erkka, Ji, Weizhen, Mosorin, Johanna, Sega, Annalisa G., Iuga, Alina C., Lobritto, Steven J., Konstantino, Monica, Chan, Albert, Finel, Moshe, and Lakhani, Saquib A.
Abstract: Uridine diphosphate glucuronosyltransferases (UGTs) are key enzymes responsible for the body’s ability to process a variety of endogenous and exogenous compounds. Significant gains in understanding UGT function have come from the analysis of variants seen in patients. We cared for a Sudanese child who showed clinical features of type 1 Crigler-Najjar syndrome (CN-1), namely severe unconjugated hyperbilirubinemia leading to liver transplantation. CN-1 is an autosomal recessive disorder caused by damaging mutations in the gene for UGT1A1, the hepatic enzyme responsible for bilirubin conjugation in humans. Clinical genetic testing was unable to identify a known pathogenic UGT1A1mutation in this child. Instead, a novel homozygous variant resulting in an in-frame deletion, p.Val275del, was noted. Sanger sequencing demonstrated that this variant segregated with the disease phenotype in this family. We further performed functional testing using recombinantly expressed UGT1A1 with and without the patient variant, demonstrating that p.Val275del results in a complete lack of glucuronidation activity, a hallmark of CN-1. Sequence analysis of this region shows a high degree of conservation across all known catalytically active human UGTs, further suggesting that it plays a key role in the enzymatic function of UGTs. Finally, we note that the patient’s ethnicity likely played a role in his variant being previously undescribed and advocate for greater diversity and inclusion in genomic medicine.
Published: 2019
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50. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders.

Author: Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis EK, Khursheed F, Khokha MK, Lakhani SA, and Malik S
Abstract: There remains a crucial need to address inequalities in genomic research and include populations from low- and middle-income countries (LMIC). Here we present eight consanguineous families from Pakistan, five with neurodevelopmental disorders (NDDs) and three with neuromuscular disorders (NMDs). Affected individuals were clinically characterized, and genetic variants were identified through exome sequencing (ES), followed by family segregation analysis. Affected individuals in six out of eight families (75%) carried homozygous variants that met ACMG criteria for being pathogenic (in the genes ADGRG1, METTL23, SPG11) or likely pathogenic (in the genes GPAA1, MFN2, SGSH). The remaining two families had homozygous candidate variants in the genes (AP4M1 and FAM126A) associated with phenotypes consistent with their clinical presentations, but the variants did not meet the criteria for pathogenicity and were hence classified as variants of unknown significance. Notably, the variants in ADGRG1, AP4M1, FAM126A, and SGSH did not have prior reports in the literature, demonstrating the importance of including diverse populations in genomic studies. We provide clinical phenotyping along with analyses of ES data that support the utility of ES in making accurate molecular diagnoses in these patients, as well as in unearthing novel variants in known disease-causing genes in underrepresented populations from LMIC., (© 2024 Wiley Periodicals LLC.)
Published: 2024
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