109 results on '"Peña, Loren"'
Search Results
2. An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
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Mah-Som, Annelise Y., Daw, Jil, Huynh, Diana, Wu, Mengcheng, Creekmore, Benjamin C., Burns, William, Skinner, Steven A., Holla, Øystein L., Smeland, Marie F., Planes, Marc, Uguen, Kevin, Redon, Sylvia, Bierhals, Tatjana, Scholz, Tasja, Denecke, Jonas, Mensah, Martin A., Sczakiel, Henrike L., Tichy, Heidelis, Verheyen, Sarah, Blatterer, Jasmin, Schreiner, Elisabeth, Thies, Jenny, Lam, Christina, Spaeth, Christine G., Pena, Loren, Ramsey, Keri, Narayanan, Vinodh, Seaver, Laurie H., Rodriguez, Diana, Afenjar, Alexandra, Burglen, Lydie, Lee, Edward B., Chou, Tsui-Fen, Weihl, Conrad C., and Shinawi, Marwan S.
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- 2023
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3. Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
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Peña, Loren D.M., Burrage, Lindsay C., Enns, Gregory M., Esplin, Edward D., Harding, Cary, Mendell, Jerry R., Niu, Zhiyv (Neal), Scharfe, Curt, Yu, Timothy, and Koeberl, Dwight D.
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- 2023
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4. Vosoritide approved for treatment of linear growth in pediatric patients with achondroplasia: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)
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Poskanzer, Sheri A., Peña, Loren D.M., and Niu, Zhiyv
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- 2023
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5. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
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Fountain, Michael D, Oleson, David S, Rech, Megan E, Segebrecht, Lara, Hunter, Jill V, McCarthy, John M, Lupo, Philip J, Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A, Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S, Pedersen, Robert C, Morgan, Thomas M, Pfotenhauer, Jean P, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L, Patel, Ankita, Krantz, Ian D, Raible, Sarah E, Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M, Person, Richard E, Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D, van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L, Taft, Ryan J, Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F, Horn, Denise, Spillmann, Rebecca C, Peña, Loren, Wierzba, Jolanta, Strom, Tim M, Parenti, Ilaria, Kaiser, Frank J, Ehmke, Nadja, and Schaaf, Christian P
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Biological Sciences ,Genetics ,Brain Disorders ,Neurosciences ,Behavioral and Social Science ,Clinical Research ,Pediatric ,Congenital Structural Anomalies ,Intellectual and Developmental Disabilities (IDD) ,Mental Health ,Autism ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Adolescent ,Autism Spectrum Disorder ,Child ,Child ,Preschool ,Chromosome Deletion ,DNA-Binding Proteins ,Genome ,Human ,Haploinsufficiency ,Humans ,Infant ,Infant ,Newborn ,Intellectual Disability ,Language Development Disorders ,Neurodevelopmental Disorders ,Nuclear Proteins ,Phenotype ,Problem Behavior ,Proteins ,Exome Sequencing ,USP7 ,neurodevelopment ,speech delay ,white matter paucity ,corpus callosum thinning ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeHaploinsufficiency of USP7, located at chromosome 16p13.2, has recently been reported in seven individuals with neurodevelopmental phenotypes, including developmental delay/intellectual disability (DD/ID), autism spectrum disorder (ASD), seizures, and hypogonadism. Further, USP7 was identified to critically incorporate into the MAGEL2-USP7-TRIM27 (MUST), such that pathogenic variants in USP7 lead to altered endosomal F-actin polymerization and dysregulated protein recycling.MethodsWe report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis. Clinical features were evaluated by review of medical records. Additional clinical information was obtained on the seven previously reported individuals to fully elucidate the phenotypic expression associated with USP7 haploinsufficiency.ResultsThe clinical manifestations of these 23 individuals suggest a syndrome characterized by DD/ID, hypotonia, eye anomalies,feeding difficulties, GERD, behavioral anomalies, and ASD, and more specific phenotypes of speech delays including a nonverbal phenotype and abnormal brain magnetic resonance image findings including white matter changes based on neuroradiologic examination.ConclusionThe consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.
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- 2019
6. Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
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Behin, Anthony, Boentert, Matthias, Carvalho, Gerson, Chahin, Nizar, Charrow, Joel, Deegan, Patrick, Durmus Tekce, Hacer, Duval, Fanny, Genge, Angela, Gutmann, Ludwig, Henderson, Robert D, Hennermann, Julia B, Hiwot, Tarekegn, Hughes, Derralynn, Karaa, Amel, Karam, Chafic, Kautzky-Willer, Alexandra, Komaki, Hirofumi, Laforet, Pascal, Longo, Nicola, Malinova, Vera, Maré, Ricardo, Maxit, Clarisa, Mengel, Eugen, Moggio, Maurizio Gualtiero, Molnár, Mária Judit, Mongini, Tiziana Enrica, Nadaj-Pakleza, Aleksandra, Nascimento Osorio, Andres, Noury, Jean-Baptiste, Oliveira, Acary Souza Bulle, Parman, Yesim, Pena, Loren, Remiche, Gauthier, Sciacco, Monica, Shieh, Perry B, Smith, Cheryl, Stulnig, Thomas, Taithe, Frederic, Tard, Céline, Tarnopolsky, Mark, Vorgerd, Matthias, Whitley, Chester, Young, Peter, Alonso-Pérez, Jorge, Altemus, Patricia, Aubé-Nathier, Anne-Catherine, Avelar, Jennifer B, Bailey, Carrie, Bekircan-Kurt, Can Ebru, Billy, Jenny, Boschi, Silvia, Brown, Kathryn E, Carrera Garcia, Laura, Chase, Lauren, Cirne, Hamilton, Danjoux, Loïc, Davion, Jean-Baptiste, DeArmey, Stephanie, Fedotova, Ekaterina, Gandolfo, Eve, Grosz, Zoltan, Guellec, Dewi, Guettsches, Anne-Katrin, Guglieri, Michela, Hatcher, Erin, Helms, Sina, Hufgard-Leitner, Miriam, Klyushnikov, Sergey A., Langton, Jacqui, Linková, Lenka, Mavroudakis, Nicolas, Mazurová, Stella, Mori, Madoka, Müller-Miny, Louisa, Musumeci, Olimpia, Nance, Christopher S, Natera-de Benito, Daniel, Neel, Robert, Niizawa, Gabriela A, Noll, Lauren, Ortega, Erik, Pasnoor, Mamatha, Pautot, Vivien, Potulska-Chromik, Anna, Pugliese, Alessia, Questienne, Claire, Ramos Lopes, Margarida, Reyes-Leiva, David, Riedl, Michaela, Rugiero, Marcelo Francisco, Salort-Campana, Emmanuelle, Sgobbi Souza, Paulo Victor, Sole, Guilhem, Solera, Luca, Souto Lopes, Suzara, Specht, Sabine, Statland, Jeffrey, Swenson, Andrea, Tan, Chong Yew, Tizon, Sónia, van der Beek, N A M E, van Kooten, Harmke A., Wencel, Marie, Wenninger, Stephan, Zagnoli, Fabien, Diaz-Manera, Jordi, Kishnani, Priya S, Kushlaf, Hani, Ladha, Shafeeq, Mozaffar, Tahseen, Straub, Volker, Toscano, Antonio, van der Ploeg, Ans T, Berger, Kenneth I, Clemens, Paula R, Chien, Yin-Hsiu, Day, John W, Illarioshkin, Sergey, Roberts, Mark, Attarian, Shahram, Borges, Joao Lindolfo, Bouhour, Francoise, Choi, Young Chul, Erdem-Ozdamar, Sevim, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, Haack, Kristina An, Hug, Christopher, Huynh-Ba, Olivier, Johnson, Judith, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, and Schoser, Benedikt
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- 2021
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7. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
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Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Chao, Hsiao-Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Tan, Queenie K.-G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Toro, Camilo, Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Ben Solomon, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Moretti, Paolo, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Brokamp, Elly, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., PhillipsIII, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Rush, Eric, Pitt, Geoffrey S., and Au, Ping Yee Billie
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- 2021
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8. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
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Shashi, Vandana, Schoch, Kelly, Spillmann, Rebecca, Cope, Heidi, Tan, Queenie K.-G., Walley, Nicole, Pena, Loren, McConkie-Rosell, Allyn, Jiang, Yong-Hui, Stong, Nicholas, Need, Anna C., Goldstein, David B., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., D’Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Pena, Loren DM., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, and Zheng, Allison
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- 2019
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9. Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial
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Day, John W, Finkel, Richard S, Chiriboga, Claudia A, Connolly, Anne M, Crawford, Thomas O, Darras, Basil T, Iannaccone, Susan T, Kuntz, Nancy L, Peña, Loren D M, Shieh, Perry B, Smith, Edward C, Kwon, Jennifer M, Zaidman, Craig M, Schultz, Meredith, Feltner, Douglas E, Tauscher-Wisniewski, Sitra, Ouyang, Haojun, Chand, Deepa H, Sproule, Douglas M, Macek, Thomas A, and Mendell, Jerry R
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- 2021
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10. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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Brunet, Theresa, McWalter, Kirsty, Mayerhanser, Katharina, Anbouba, Grace M., Armstrong-Javors, Amy, Bader, Ingrid, Baugh, Evan, Begtrup, Amber, Bupp, Caleb P., Callewaert, Bert L., Cereda, Anna, Cousin, Margot A., Del Rey Jimenez, Juan C., Demmer, Laurie, Dsouza, Nikita R., Fleischer, Nicole, Gavrilova, Ralitza H., Ghate, Sumedha, Graf, Elisabeth, Green, Andrew, Green, Sarah R., Iascone, Maria, Kdissa, Ameni, Klee, Dirk, Klee, Eric W., Lancaster, Emily, Lindstrom, Kristin, Mayr, Johannes A., McEntagart, Meriel, Meeks, Naomi J.L., Mittag, Dana, Moore, Harrison, Olsen, Anne K., Ortiz, Damara, Parsons, Gretchen, Pena, Loren D.M., Person, Richard E., Punj, Sumit, Ramos-Rivera, Gonzalo Alonso, Sacoto, Maria J.Guillen, Bradley Schaefer, G., Schnur, Rhonda E., Scott, Tiana M., Scott, Daryl A., Serbinski, Carolyn R., Shashi, Vandana, Siu, Victoria M., Stadheim, Barbro Fossøy, Sullivan, Jennifer A., Švantnerová, Jana, Velsher, Lea, Wargowski, David S., Wentzensen, Ingrid M., Wieczorek, Dagmar, Winkelmann, Juliane, Yap, Patrick, Zech, Michael, Zimmermann, Michael T., Meitinger, Thomas, Distelmaier, Felix, and Wagner, Matias
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- 2021
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11. GATAD2B-associatedneurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-relateddisorder
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Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M.J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Jr, Kini, Usha, Mackay, Joel P., and Pierson, Tyler Mark
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- 2020
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12. Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early life prospective cohort
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Virolainen, Samuel J., primary, Satish, Latha, additional, Biagini, Jocelyn M., additional, Chaib, Hassan, additional, Chang, Wan Chi, additional, Dexheimer, Phillip J., additional, Dixon, Michael R., additional, Dunn, Katelyn A., additional, Fletcher, David, additional, Forney, Carmy, additional, Granitto, Marissa, additional, Hestand, Matthew S., additional, Hurd, Makenna, additional, Kaufman, Kenneth, additional, Lawson, Lucinda P., additional, Martin, Lisa J., additional, Peña, Loren D.M., additional, Phelan, Kieran J., additional, Shook, Molly S., additional, Weirauch, Matthew T., additional, Khurana Hershey, Gurjit K., additional, and Kottyan, Leah C., additional
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- 2024
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13. Arimoclomol safety profile in the treatment of Niemann-Pick disease type C in a real-world setting: Long-term safety data from an expanded access program in the United States
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Ficicioglu, Can, Berry-Kravis, Elizabeth, Al-Hertani, Walla, Wang, Raymond Y., Patterson, Marc, Pena, Loren, Julich, Kristina, Ortiz, Damara, Schleifer, Paula, Hillman, Paul, Hastings, Caroline A., Orr, Blair, O'Reilly, Ronan J., and Gallo, Daniel
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- 2025
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14. Arimoclomol for the treatment of Niemann-Pick disease type C in a real-world setting: Long-term data from an expanded access program in the United States
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Berry-Kravis, Elizabeth, Al-Hertani, Walla, Wang, Raymond Y., Patterson, Marc, Ficicioglu, Can, Pena, Loren, Julich, Kristina, Ortiz, Damara, Schleifer, Paula, Hastings, Caroline A., Hillman, Paul, O'Reilly, Ronan J., Orr, Blair, and Gallo, Daniel
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- 2025
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15. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
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Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, and Jolly, Lachlan A.
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- 2020
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16. Long-term Safety and Efficacy of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease
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Dimachkie, Mazen M., Barohn, Richard J., Byrne, Barry, Goker-Alpan, Ozlem, Kishnani, Priya S., Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Peña, Loren D.M., Sacconi, Sabrina, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, van der Ploeg, Ans T., Vissing, John, Young, Peter, Haack, Kristina An, Foster, Meredith, Gilbert, Jane M., Miossec, Patrick, Vitse, Olivier, Zhou, Tianyue, and Schoser, Benedikt
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- 2022
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17. Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease
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Kishnani, Priya S., Gibson, James B., Gambello, Michael J., Hillman, Richard, Stockton, David W., Kronn, David, Leslie, Nancy D., Pena, Loren D.M., Tanpaiboon, Pranoot, Day, John W., Wang, Raymond Y., Goldstein, Jennifer L., An Haack, Kristina, Sparks, Susan E., Zhao, Yang, and Hahn, Si Houn
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- 2019
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18. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
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Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Orengo, James P., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tan, Queenie K.-G., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zheng, Allison, Reynolds, John J., Baratang, Nissan Vida, Phillips, Jennifer B., Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R., Christiansen, Audrey E., Lanza, Denise G., Seavitt, John R., Jain, Mahim, Li, Xiaohui, Parry, David A., Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Schlesinger, Alan E., Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N., Gibbs, Richard A., Bi, Weimin, Emrick, Lisa, Postlethwait, John, Dickinson, Mary E., Beaudet, Arthur L., Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D., Bertola, Débora, Yamamoto, Guilherme L., Baratela, Wagner A.R., Butler, Merlin G., Ali, Asim, Adeli, Mehdi, Cohn, Daniel H., Krakow, Deborah, Jackson, Andrew P., Lees, Melissa, Offiah, Amaka C., Carlston, Colleen M., Carey, John C., Stewart, Grant S., Campeau, Philippe M., and Lee, Brendan
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- 2019
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19. Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study
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Pena, Loren D.M., Barohn, Richard J., Byrne, Barry J., Desnuelle, Claude, Goker-Alpan, Ozlem, Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Pestronk, Alan, Pouget, Jean, Schoser, Benedikt, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, Vissing, John, Young, Peter, Kacena, Katherine, Shafi, Raheel, Thurberg, Beth L., Culm-Merdek, Kerry, and van der Ploeg, Ans T.
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- 2019
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20. Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
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Hahn, Si Houn, Kronn, David, Leslie, Nancy D., Pena, Loren D.M., Tanpaiboon, Pranoot, Gambello, Michael J., Gibson, James B., Hillman, Richard, Stockton, David W., Day, John W., Wang, Raymond Y., An Haack, Kristina, Shafi, Raheel, Sparks, Susan, Zhao, Yang, Wilson, Catherine, and Kishnani, Priya S.
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- 2018
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21. IRF2BPL Is Associated with Neurological Phenotypes
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Callens, Steven, Coucke, Paul, Dermaut, Bart, Hemelsoet, Dimitri, Poppe, Bruce, Steyaert, Wouter, Terryn, Wim, Van Coster, Rudy, Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Lipson, Allen, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zastrow, Diane B., Zheng, Allison, Marcogliese, Paul C., Koenig, Mary Kay, Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Lin, Henry J., Vera, Moin U., Salamon, Noriko, Graham, John M., Jr., Ortiz, Damara, Infante, Elena, Chung, Hyung-Lok, Zuo, Zhongyuan, Lee, Pei-Tseng, Kanca, Oguz, Xia, Fan, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Spiridigliozzi, Gail, El-Dairi, Mays, Lark, Robert, Riley, Kacie, Koeberl, Dwight D., Golden-Grant, Katie, Wangler, Michael F., Mirzaa, Ghayda, Lee, Brendan, Nelson, Stanley F., and Bellen, Hugo J.
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- 2018
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22. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
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Pena, Loren D.M., Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C., Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A., McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C., El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G., Noel, Richard, Nagaraj, Shashi K., Lark, Robert K., Wechsler, Daniel S.G., del Gaudio, Daniela, Leung, Marco L., Hendon, Laura G., Parker, Collette C., Jones, Kelly L., Goldstein, David B., Shashi, Vandana, Alejandro, Mercedes E., Bacino, Carlos A., Balasubramanyam, Ashok, Bostwick, Bret L., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Hanchard, Neil A., Jain, Mahim, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Azamian, Mashid S., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Zhang, Jing, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Muzny, Donna M., Ward, Patricia A., Yang, Yaping, Jiang, Yong-hui, Walley, Nicole M., Beggs, Alan H., Briere, Lauren C., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Ramoni, Rachel B., Splinter, Kimberly, Bick, David P., Birch, Camille L., Boone, Braden E., Brown, Donna M., Dorset, Daniel C., Handley, Lori H., Jacob, Howard J., Jones, Angela L., Lazar, Jozef, Levy, Shawn E., Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Worthey, Elizabeth A., Dayal, Jyoti G., Eckstein, David J., Gould, Sarah E., Howerton, Ellen M., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., Urv, Tiina K., Wise, Anastasia L., Soldatos, Ariane G., Brush, Matthew, Gourdine, Jean-Philippe F., Haendel, Melissa, Koeller, David M., Kyle, Jennifer E., Metz, Thomas O., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Ashley, Euan A., Bernstein, Jonathan A., Dries, Annika M., Fisher, Paul G., Kohler, Jennefer N., Waggott, Daryl M., Wheeler, Matthew T., Zornio, Patricia A., Allard, Patrick, Barseghyan, Hayk, Dell'Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Dorrani, Naghmeh, Douine, Emilie D., Eskin, Ascia, Fogel, Brent L., Herzog, Matthew R., Lee, Hane, Lipson, Allen, Loo, Sandra K., Martínez-Agosto, Julian A., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Sinsheimer, Janet S., Vilain, Eric, Zheng, Allison, Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary G., Groden, Catherine A., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Levy, Denise J., Liebendorfer, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Yu, Guoyun, Gropman, Andrea L., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Lee, Paul R., Postlethwait, John H., Westerfield, Monte, Bican, Anna, Cogan, Joy D., Hamid, Rizwan, Newman, John H., Phillips, John A., III, and Robertson, Amy K.
- Published
- 2018
- Full Text
- View/download PDF
23. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome
- Author
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Adams, Christopher J., Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gould, Sarah E., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Hardee, Isabel, Herzog, Matthew R., Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koehler, Alanna E., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorfer, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McCarty, Alexandra J., McConkie-Rosell, Allyn, McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sadozai, Sarah, Schaffer, Katherine E., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Soldatos, Ariane G., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Valivullah, Zaheer M., Vilain, Eric, Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zornio, Patricia A., Wang, Julia, Al-Ouran, Rami, Hu, Yanhui, Kim, Seon-Young, Wan, Ying-Wooi, Chao, Hsiao-Tuan, Comjean, Aram, Mohr, Stephanie E., Perrimon, Norbert, and Liu, Zhandong
- Published
- 2017
- Full Text
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24. Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation
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McCrory, Nicholas M., Edick, Mathew J., Ahmad, Ayesha, Lipinski, Susan, Scott Schwoerer, Jessica A., Zhai, Shaohui, Justice, Kaitlin, Cameron, Cynthia A., Berry, Susan A., and Pena, Loren D.M.
- Published
- 2017
- Full Text
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25. Transport®NPC: open phase 3 global trial of intravenous hydroxy-propyl-beta-cyclodextrin in patients with Niemann-Pick disease type C1 (NPC1)
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Hastings, Caroline A., Goker-Alpan, Ozlem, Pena, Loren, Bayarri, Jordi Gascon, Martin-Hernandez, Elena, Sharma, Reena, Chacham, Orna Staretz, Spiegel, Ronen, Mengel, Eugen, Walterfang, Mark, Peters, Heidi, Fung, Victor S., Kiec-Wilk, Beata, Smith, Nicholas, Giugliani, Roberto, Guelbert, Norberto, Ezgu, Fatih, Ucar, Sema Kalkan, Murray, Bryan J., Brecht, Andreas F., and Mejia, Joseph
- Published
- 2024
- Full Text
- View/download PDF
26. P132: Expansion of the IRF2BPL-related disorder phenotype: Initial updates from natural history study*
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Vanagunas, Tomas and Pena, Loren
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- 2024
- Full Text
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27. 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
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Thomas, Janet, Dodge, Melinda, Singh, Rani, Lakshman, Sangeetha, Coakley, Katie, Stembridge, Adrya, Russi, Alvaro Serrano, Phillips, Emily, Burton, Barbara, Edano, Clare, Shrestha, Sheela, Hoganson, George, Dwyer, Lauren, Hainline, Bryan, Romie, Susan, Hainline, Sarah, Asamoah, Alexander, Goodin, Kara, Rajakaruna, Cecilia, Jackson, Kelly, Hamosh, Ada, Vernon, Hilary, Smith, Nancy, Ahmad, Ayesha, Lipinski, Sue, Feldman, Gerald, Berry, Susan, Elsbecker, Sara, Bentler, Kristi, Font-Montgomery, Esperanza, Peck, Dawn, Pena, Loren D.M., Koeberl, Dwight D., Jiang, Yong-hui, Kishnani, Priya S., Rizzo, William, Dawson, Machelle, Ambrose, Nancy, Levy, Paul, Kronn, David, Fong, Chin-to, D’Aco, Kristin, Hart, Theresa, Erbe, Richard, Samons, Melissa, Leslie, Nancy, Powers, Racheal, Bartholomew, Dennis, Goff, Melanie, vanCalcar, Sandy, Hansen, Joyanna, Arnold, Georgianne, Vockley, Jerry, Walsh-Vockley, Cate, Rhead, William, Dimmock, David, Engelking, Paula, Bird, Cassie, Swan, Ashley, Schwoerer, Jessica Scott, Henry, Sonja, Narumanchi, TaraChandra, Hummel, Marybeth, Wilkins, Jennie, Davis-Keppen, Laura, Stein, Quinn, Loman, Rebecca, Cameron, Cynthia, Edick, Mathew J., Hiner, Sally J., Justice, Kaitlin, Zhai, Shaohui, Elsbecker, Sara A., Arnold, Georgianne L., Burton, Barbara K., Cameron, Cynthia A., and Berry, Susan A.
- Published
- 2016
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28. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study
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van der Ploeg, Ans, Carlier, Pierre G., Carlier, Robert-Yves, Kissel, John T., Schoser, Benedikt, Wenninger, Stephan, Pestronk, Alan, Barohn, Richard J., Dimachkie, Mazen M., Goker-Alpan, Ozlem, Mozaffar, Tahseen, Pena, Loren D.M., Simmons, Zachary, Straub, Volker, Guglieri, Michela, Young, Peter, Boentert, Matthias, Baudin, Pierre-Yves, Wens, Stephan, Shafi, Raheel, Bjartmar, Carl, and Thurberg, Beth L.
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- 2016
- Full Text
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29. Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
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Pena, Loren D.M., van Calcar, Sandra C., Hansen, Joyanna, Edick, Mathew J., Walsh Vockley, Cate, Leslie, Nancy, Cameron, Cynthia, Mohsen, Al-Walid, Berry, Susan A., Arnold, Georgianne L., and Vockley, Jerry
- Published
- 2016
- Full Text
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30. Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease
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Pena, Loren D. M., Proia, Alan D., Kishnani, Priya S., Zschocke, Johannes, Editor-in-chief, Baumgartner, Matthias, editor, Morava, Eva, editor, Patterson, Marc, editor, Rahman, Shamima, editor, and Peters, Verena, editor
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- 2015
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31. Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
- Author
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Khalaf-Nazzal, Reham, Fasham, James, Inskeep, Katherine A., Blizzard, Lauren E., Leslie, Joseph S., Wakeling, Matthew N., Ubeyratna, Nishanka, Mitani, Tadahiro, Griffith, Jennifer L., Baker, Wisam, Al-Hijawi, Fida’, Keough, Karen C., Gezdirici, Alper, Pena, Loren, Spaeth, Christine G., Turnpenny, Peter D., Walsh, Joseph R., Ray, Randall, Neilson, Amber, Kouranova, Evguenia, Cui, Xiaoxia, Curiel, David T., Pehlivan, Davut, Akdemir, Zeynep Coban, Posey, Jennifer E., Lupski, James R., Dobyns, William B., Stottmann, Rolf W., Crosby, Andrew H., and Baple, Emma L.
- Published
- 2022
- Full Text
- View/download PDF
32. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
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Byrne, Barry J., primary, Colan, Steven D., additional, Kishnani, Priya S., additional, Foster, Meredith C., additional, Sparks, Susan E., additional, Gibson, James B., additional, An Haack, Kristina, additional, Stockton, David W., additional, Peña, Loren D. M., additional, Hahn, Si Houn, additional, Johnson, Judith, additional, Tanpaiboon, Pranoot X., additional, Leslie, Nancy D., additional, Kronn, David, additional, Hillman, Richard E., additional, and Wang, Raymond Y., additional
- Published
- 2021
- Full Text
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33. Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
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Duong, Tina, Kishnani, Priya S., An Haack, Kristina, Foster, Meredith C., Gibson, James B., Wilson, Catherine, Hahn, Si Houn, Hillman, Richard, Kronn, David, Leslie, Nancy D., Peña, Loren D.M., Sparks, Susan E., Stockton, David W., Tanpaiboon, Pranoot, and Day, John W.
- Published
- 2022
- Full Text
- View/download PDF
34. Onasemnogene Abeparvovec-xioi Gene-Replacement Therapy for Spinal Muscular Atrophy Type 1 (SMA1): Phase 3 US Study (STR1VE) Update (1828)
- Author
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Day, John W., primary, Chiriboga, Claudia A., additional, Crawford, Thomas O., additional, Darras, Basil T., additional, Finkel, Richard S., additional, Connolly, Anne M., additional, Iannaccone, Susan T., additional, Kuntz, Nancy L., additional, Peña, Loren D.M., additional, Shieh, Perry B., additional, Smith, Edward C., additional, Schultz, Meredith, additional, Feltner, Douglas E., additional, Tauscher-Wisniewski, Sitra, additional, Ogrinc, Francis G., additional, Shah, Ankita, additional, Ouyang, Haojun, additional, Macek, Thomas, additional, Kernbauer, Elaine, additional, Sproule, Douglas M., additional, and Mendell, Jerry R., additional
- Published
- 2020
- Full Text
- View/download PDF
35. Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
- Author
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Byrne, Barry J., Colan, Steven D., Kishnani, Priya S., Foster, Meredith C., Sparks, Susan E., Gibson, James B., An Haack, Kristina, Stockton, David W., Peña, Loren D. M., Hahn, Si Houn, Johnson, Judith, Tanpaiboon, Pranoot X., Leslie, Nancy D., Kronn, David, Hillman, Richard E., and Wang, Raymond Y.
- Published
- 2022
- Full Text
- View/download PDF
36. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
- Author
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Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Lipson, Allen, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zastrow, Diane B., Zheng, Allison, Machol, Keren, Rousseau, Justine, Ehresmann, Sophie, Garcia, Thomas, Nguyen, Thi Tuyet Mai, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Cho, Megan T., McLaughlin, Heather, Rosello Piera, Monica, Orellana, Carmen, Martínez, Francisco, Caro-Llopis, Alfonso, Monfort, Sandra, Roscioli, Tony, Nixon, Cheng Yee, Buckley, Michael F., Turner, Anne, Jones, Wendy D., van Hasselt, Peter M., Hofstede, Floris C., van Gassen, Koen L.I., Brooks, Alice S., van Slegtenhorst, Marjon A., Lachlan, Katherine, Sebastian, Jessica, Madan-Khetarpal, Suneeta, Sonal, Desai, Sakkubai, Naidu, Thevenon, Julien, Faivre, Laurence, Maurel, Alice, Petrovski, Slavé, Krantz, Ian D., Tarpinian, Jennifer M., and Campeau, Philippe M.
- Published
- 2019
- Full Text
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37. Regulation of human papillomavirus gene expression in the vegetative life cycle
- Author
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Peña, Loren del Mar, primary and Laimins, Laimonis A., additional
- Published
- 2002
- Full Text
- View/download PDF
38. Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder
- Author
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Adams, David R., Alejandro, Mercedes E., Allard, Patrick, Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Bick, David P., Birch, Camille L., Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Eskin, Ascia, Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Herzog, Matthew R., Holm, Ingrid A., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Lipson, Allen, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sweetser, David A., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Valivullah, Zaheer M., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zastrow, Diane B., Zheng, Allison, Oláhová, Monika, Yoon, Wan Hee, Thompson, Kyle, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Kyle, Jennifer E., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Dries, Annika M., Zhao, Chunli, Contrepois, Kévin, Zappala, Zachary, Frésard, Laure, Waggott, Daryl, Zink, Erika M., Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Webb-Robertson, Bobbie-Jo M., Snyder, Michael, Merker, Jason D., Montgomery, Stephen B., Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Barbosa, Ines A., Simpson, Michael A., Deshpande, Charu, Koeller, David M., Metz, Thomas O., Morris, Andrew A., Schelley, Susan, Cowan, Tina, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L.K., Enns, Gregory M., Ashley, Euan A., Wangler, Michael F., Taylor, Robert W., Bellen, Hugo J., Bernstein, Jonathan A., and Wheeler, Matthew T.
- Published
- 2018
- Full Text
- View/download PDF
39. ARIMOCLOMOL IN ADULTS WITH NPC IN A REAL-WORLD SETTING DATA FROM AN EXPANDED ACCESS PROGRAM IN THE USA
- Author
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Patterson, Marc, Ficicioglu, Can, Pena, Loren, Julich, Kristina, Al-Hertani, Walla, Berry-Kravis, Elizabeth, Ellis, Alexandra, Foley, Catherine, Fogh, Bodil Svanholm, Greene, Tara, and Gallo, Daniel
- Published
- 2022
- Full Text
- View/download PDF
40. Onasemnogene Abeparvovec Gene-Replacement Therapy (GRT) for Spinal Muscular Atrophy Type 1 (SMA1): Pivotal Phase 3 Study (STR1VE) Update
- Author
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Day, John W., additional, Chiriboga, Claudia A., additional, Crawford, Thomas O., additional, Darras, Basil T., additional, Finkel, Richard S., additional, Connolly, Anne M., additional, Iannaccone, Susan T., additional, Kuntz, Nancy L., additional, Peña, Loren, additional, Schultz, Meredith, additional, Shieh, Perry B., additional, Smith, Edward C., additional, Ernst, Uwe, additional, Feltner, Douglas E., additional, Orgrinc, Francis G., additional, Shah, Ankita, additional, Ouyang, Haojun, additional, Macek, Thomas A., additional, Kernbauer, Elaine, additional, L’Italien, James, additional, Sproule, Douglas M., additional, Kaspar, Brian K., additional, and Medel, Jerry R., additional
- Published
- 2019
- Full Text
- View/download PDF
41. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
- Author
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Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P., Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, and Schaaf, Christian P.
- Published
- 2019
42. Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies
- Author
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Genetica, UMC Utrecht, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P., Genetica, UMC Utrecht, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, and Schaaf, Christian P.
- Published
- 2019
43. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations
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Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Chao, Hsiao-Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Tan, Queenie K.-G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Toro, Camilo, Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Ben Solomon, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Moretti, Paolo, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Brokamp, Elly, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., PhillipsIII, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Rush, Eric, Pitt, Geoffrey S., and Au, Ping Yee Billie
- Published
- 2021
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44. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay
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Nelson, Stanley F., Grody, Wayne W., Lee, Hane, Strom, Samuel P., Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Dorrani, Naghmeh, Mullegama, Sureni, Kang, Sung-Hae, Szelinger, Szabolcs, Alejandro, Mercedes E., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Hanchard, Neil A., Jain, Mahim, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Mashid, Azamian S., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Scott, Daryl A., Tran, Alyssa A., Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Muzny, Donna M., Ward, Patricia A., Yang, Yaping, Gropman, Andrea L., Goldstein, David B., Stong, Nicholas, Jiang, Yong-hui, McConkie-Rosell, Allyn, Pena, Loren D.M., Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Sullivan, Jennifer A., Walley, Nicole M., Beggs, Alan H., Briere, Lauren C., Cooper, Cynthia M., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walsh, Chris A., Esteves, Cecilia, Holm, Ingrid A., Kohane, Isaac S., Mazur, Paul, McCray, Alexa T., Might, Matthew, Ramoni, Rachel B., Splinter, Kimberly, Bick, David P., Birch, Camille L., Boone, Braden E., Brown, Donna M., Dorset, Dan C., Handley, Lori H., Jacob, Howard J., Jones, Angela L., Lazar, Jozef, Levy, Shawn E., Newberry, J. Scott, Schroeder, Molly C., Strong, Kimberly A., Worthey, Elizabeth A., Dayal, Jyoti G., Eckstein, David J., Gould, Sarah E., Howerton, Ellen M., Krasnewich, Donna M., Loomis, Carson R., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., Wise, Anastasia L., Soldatos, Ariane G., Brush, Matthew, Gourdine, Jean-Philippe F., Haendel, Melissa, Koeller, David M., Kyle, Jennifer E., Metz, Thomas O., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Ashley, Euan A., Bernstein, Jonathan A., Dries, Annika M., Fisher, Paul G., Kohler, Jennefer N., Waggott, Daryl M., Wheeler, Matt T., Zornio, Patricia A., Allard, Patrick, Barseghyan, Hayk, Dell’Angelica, Esteban C., Dipple, Katrina M., Herzog, Matthew R., Nelson, Stan F., Palmer, Christina G.S., Papp, Jeanette C., Sinsheimer, Janet S., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary “Gracie” G., Groden, Catherine A., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Levy, Denise J., Liebendorder, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Thomas, Sara P., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Yu, Guoyun, Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Lee, Paul R., Postlethwait, John H., Westerfield, Monte, Bican, Anna, Hamid, Rizwan, Newman, John H., Phillips, John A., III, Robertson, Amy K., Cogan, Joy D., Meng, Linyan, Bearden, David R., Stray-Pedersen, Asbjorg, Busk, Oyvind L., Liston, Eriskay, Cohn, Ronald D., Scaglia, Fernando, Tarpinian, Jennifer, Skraban, Cara M., Deardorff, Matthew A., Friedman, Jeremy N., Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A., Kranz, Peter G., Jasien, Joan, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Xiao, Rui, Martinez-Agosto, Julian A., and Lupski, James R.
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- 2017
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45. The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
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Adams, David R., Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernick, David, Bernstein, Jonathan A., Bican, Anna, Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brownstein, Catherine A., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Dries, Annika M., Eastwood, Rachel, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary “Gracie” G., Gould, Sarah E., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Hardee, Isabel, Herzog, Matthew R., Holm, Ingrid A., Howerton, Ellen M., Iglesias, Brenda, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koehler, Alanna E., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Martin, Casey, Mazur, Paul, McCarty, Alexandra J., McConkie-Rosell, Allyn, McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Sadozai, Sarah, Schaffer, Katherine E., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Soldatos, Ariane G., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Valivullah, Zaheer M., Vilain, Eric, Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, and Zornio, Patricia A.
- Published
- 2017
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46. A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
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Adams, David R., Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Dan C., Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary “Gracie” G., Gould, Sarah E., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Handley, Lori H., Hardee, Isabel, Herzog, Matthew R., Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Koehler, Alanna E., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krasnewich, Donna M., Krieg, Elizabeth L., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Mashid, Azamian S., Mazur, Paul, McCarty, Alexandra J., McConkie-Rosell, Allyn, McCray, Alexa T., Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Pena, Loren D.M., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Ramoni, Rachel B., Rodan, Lance H., Sadozai, Sarah, Schaffer, Katherine E., Schoch, Kelly, Schroeder, Molly C., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Soldatos, Ariane G., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tift, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Valivullah, Zaheer M., Vilain, Eric, Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matt T., Wise, Anastasia L., Worthe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zornio, Patricia A., Chao, Hsiao-Tuan, Burke, Elizabeth, Pappas, John G., Rosenfeld, Jill A., Davis, Taylor, Wolfe, Lynne, Tifft, Cynthia, Xia, Fan, Johnson, Travis K., and Warr, Coral G.
- Published
- 2017
- Full Text
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47. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
- Author
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Bacino, A., Lee, Brendan H., Balasubramanyam, Ashok, Burrage, Lindsay C., Clark, Gary D., Craigen, William J., Dhar, Shweta U., Emrick, Lisa T., Graham, Brett H., Jain, Mahim, Lalani, Seema R., Lewis, Richard A., Moretti, Paolo M., Nicholas, Sarah K., Orange, Jordan S., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Scott, Daryl A., Hanchard, Neil A., Alyssa, Tran A., Mercedes, Alejandro E., Mashid, Azamian S., Bellen, Hugo J., Yamamoto, Shinya, Wangler, Michael F., Westerfield, Monte, Postlethwait, John H., Eng, Christine M., Yang, Yaping, Muzny, Donna M., Ward, Patricia A., Ramoni, Rachel B., McCray, Alexa T., Kohane, Issac S., Holm, Ingrid A., Might, Matthew, Mazur, Paul, Splinter, Kimberly, Esteves, Cecilia, Shashi, Vandana, Jiang, Yong-hui, Pena, Loren D.M., McConkie-Rosell, Allyn, Schoch, Kelly, Spillmann, Rebecca C., Sullivan, Jennifer A., Walley, Nicole M., Goldstein, David B., Stong, Nicholas, Beggs, Alan H., Loscalzo, Joseph, MacRae, Calum A., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Maas, Richard L., Krier, Joel B., Rodan, Lance H., Walsh, Chris A., Cooper, Cynthia M., Pallais, Juan C., Donnell-Fink, Laurel A., Krieg, Elizabeth L., Lincoln, Sharyn A., Briere, Lauren C., Jacob, Howard J., Worthey, Elizabeth A., Lazar, Joe, Strong, Kim A., Handley, Lori H., Newberry, J. Scott, Bick, David P., Schroeder, Molly C., Brown, Donna M., Birch, Camille L., Levy, Shawn E., Boone, Braden E., Dorset, Dan C., Jones, Angela L., Manolio, Teri A., Mulvihill, John J., Wise, Anastasia L., Dayal, Jyoti G., Eckstein, David J., Krasnewich, Donna M., Loomis, Carson R., Mamounas, Laura A., Iglesias, Brenda, Martin, Casey, Koeller, David M., Metz, Thomas O., Ashley, Euan A., Fisher, Paul G., Bernstein, Jonathan A., Wheeler, Matt T., Zornio, Patricia A., Waggott, Daryl M., Dries, Annika M., Kohler, Jennefer N., Dipple, Katrina M., Nelson, Stan F., Palmer, Christina G.S., Vilain, Eric, Allard, Patrick, Dell Angelica, Esteban C., Lee, Hane, Sinsheimer, Janet S., Papp, Jeanette C., Dorrani, Naghmeh, Herzog, Matthew R., Barseghyan, Hayk, Adams, David R., Adams, Christopher J., Burke, Elizabeth A., Chao, Katherine R., Davids, Mariska, Draper, David D., Estwick, Tyra, Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Godfrey, Rena A., Goheen, Mitchell, Golas, Gretchen A., Gordon, Mary G., Groden, Catherine A., Gropman, Andrea L., Hackbarth, Mary E., Hardee, Isabel, Johnston, Jean M., Koehler, Alanna E., Latham, Lea, Latour, Yvonne L., Lau, Chyau Yueh C., Lee, Paul R., Levy, Denise J., Liebendorder, Adam P., Macnamara, Ellen F., Maduro, Valerie V., Malicdan, May V., Markello, Thomas C., McCarty, Alexandra J., Murphy, Jennifer L., Nehrebecky, Michele E., Novacic, Donna, Pusey, Barbara N., Sadozai, Sarah, Schaffer, Katherine E., Sharma, Prashant, Soldatos, Ariane G., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Valivullah, Zaheer M., Wahl, Colleen E., Warburton, Mike, Weech, Alec A., Wolfe, Lynne A., Yu, Guoyun, Hamid, Rizwan, Newman, John H., Phillips, John A., Cogan, Joy D., Kim, Katherine, Burton, Barbara, Hempel, Maja, Walkiewicz, Magdalena, McLaughlin, Heather M., Cho, Megan, Hickey, Scott E., Shuss, Christine M., Freemark, Michael S., Bellet, Jane S., Keels, Martha Ann, Bonner, Melanie J., El-Dairi, Maysantoine, Butler, Megan, Kranz, Peter G., Stumpel, Constance T.R.M., Klinkenberg, Sylvia, Oberndorff, Karin, Alawi, Malik, Santer, Rene, Petrovski, Slavé, Kuismin, Outi, Korpi-Heikkilä, Satu, Pietilainen, Olli, Aarno, Palotie, Kurki, Mitja I., Hoischen, Alexander, Need, Anna C., and Kortüm, Fanny
- Published
- 2016
- Full Text
- View/download PDF
48. NEO1/NEO-EXT studies: Safety and exploratory efficacy of repeat avalglucosidase alfa dosing after up to 6 years in participants with late-onset pompe disease (LOPD)
- Author
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Dimachkie, Mazen M., Barohn, Richard J., Byrne, Barry, Goker-Alpan, Ozlem, Kishnani, Priya S., Ladha, Shafeeq, Laforêt, Pascal, Mengel, Karl Eugen, Pena, Loren D.M., Sacconi, Sabrina, Straub, Volker, Trivedi, Jaya, Van Damme, Philip, van der Ploeg, Ans, Vissing, John, Young, Peter, Haack, Kristina An, Ivanina, Inna, Lu, Xiaoyu, and Benedikt Schoser; on behalf of NEO-EXT investigators
- Published
- 2021
- Full Text
- View/download PDF
49. Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder
- Author
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Shieh, Christine, Jones, Natasha, Vanle, Brigitte, Au, Margaret, Huang, Alden Y., Silva, Ana P.G., Lee, Hane, Douine, Emilie D., Otero, Maria G., Choi, Andrew, Grand, Katheryn, Taff, Ingrid P., Delgado, Mauricio R., Hajianpour, M.J., Seeley, Andrea, Rohena, Luis, Vernon, Hilary, Gripp, Karen W., Vergano, Samantha A., Mahida, Sonal, Naidu, Sakkubai, Sousa, Ana Berta, Wain, Karen E., Challman, Thomas D., Beek, Geoffrey, Basel, Donald, Ranells, Judith, Smith, Rosemarie, Yusupov, Roman, Freckmann, Mary-Louise, Ohden, Lisa, Davis-Keppen, Laura, Chitayat, David, Dowling, James J., Finkel, Richard, Dauber, Andrew, Spillmann, Rebecca, Pena, Loren D.M., Metcalfe, Kay, Splitt, Miranda, Lachlan, Katherine, McKee, Shane A., Hurst, Jane, Fitzpatrick, David R., Morton, Jenny E.V., Cox, Helen, Venkateswaran, Sunita, Young, Juan I., Marsh, Eric D., Nelson, Stanley F., Martinez, Julian A., Graham, John M., Jr, Kini, Usha, Mackay, Joel P., and Pierson, Tyler Mark
- Published
- 2020
- Full Text
- View/download PDF
50. Impact of early diagnosis by NBS on existing genotype phenotype correlations for Pompe disease
- Author
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Pena, Loren, Bonarrigo, Kelly, Goldsbury, Courtney, Pascoe, John, Wilmot, Ivan, and Berry, Lisa
- Published
- 2020
- Full Text
- View/download PDF
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