Author: "Donkervoort, Sandra" - Searchworks@Jio Institute Digital Library Search Results

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651 results on '"Donkervoort, Sandra"'

1. Cost-effectiveness of general practitioner- versus surgeon-led colon cancer survivorship care: an economic evaluation alongside a randomised controlled trial

Author: Vos, Julien A. M., El Alili, Mohamed, Duineveld, Laura A. M., Wieldraaijer, Thijs, Wind, Jan, Sert, Edanur, Donkervoort, Sandra C., Govaert, Marc J. P. M., van Geloven, Nanette A. W., van de Ven, Anthony W. H., Heuff, Gijsbert, van Weert, Henk C. P. M., Bosmans, Judith E., and van Asselt, Kristel M.
Published: 2024
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2. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.

Author: Donkervoort, Sandra, Mohassel, Payam, OLeary, Melanie, Bonner, Devon, Hartley, Taila, Acquaye, Nicole, Brull, Astrid, Saporta, Mario, Dyment, David, Sampson, Jacinda, Pajusalu, Sander, Austin-Tse, Christina, Hurth, Kyle, Cohen, Julie, McWalter, Kirsty, Warman-Chardon, Jodi, Crunk, Amy, Foley, A, Mammen, Andrew, Wheeler, Matthew, ODonnell-Luria, Anne, Bönnemann, Carsten, and Mozaffar, Tahseen
Subjects: Adult, Humans, Muscular Diseases, Muscle, Skeletal, Actinin, Phenotype, Cardiomyopathies
Abstract: OBJECTIVE: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series. METHODS: We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant. RESULTS: We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of asymmetric, progressive, proximal, and distal lower extremity predominant muscle weakness. None of the patients have cardiomyopathy or respiratory insufficiency. Notably, all patients report Palestinian ethnicity, suggesting a possible founder ACTN2 variant, which was confirmed through haplotype analysis in two families. Muscle biopsies reveal an underlying myopathic process with disruption of the intermyofibrillar architecture, Type I fiber predominance and atrophy. MRI of the lower extremities demonstrate a distinct pattern of asymmetric muscle involvement with selective involvement of the hamstrings and adductors in the thigh, and anterior tibial group and soleus in the lower leg. Using an in vitro splicing assay, we show that c.1516A>G ACTN2 does not impair normal splicing. INTERPRETATION: This series further establishes ACTN2 as a muscle disease gene, now also including variants with a recessive inheritance mode, and expands the clinical spectrum of actinopathies to adult-onset progressive muscle disease.
Published: 2024

3. SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Author: Nashabat, Marwan, Nabavizadeh, Nasrinsadat, Saraçoğlu, Hilal Pırıl, Sarıbaş, Burak, Avcı, Şahin, Börklü, Esra, Beillard, Emmanuel, Yılmaz, Elanur, Uygur, Seyide Ecesu, Kayhan, Cavit Kerem, Bosco, Luca, Eren, Zeynep Bengi, Steindl, Katharina, Richter, Manuela Friederike, Bademci, Guney, Rauch, Anita, Fattahi, Zohreh, Valentino, Maria Lucia, Connolly, Anne M., Bahr, Angela, Viola, Laura, Bergmann, Anke Katharina, Rocha, Maria Eugenia, Peart, LeShon, Castro-Rojas, Derly Liseth, Bültmann, Eva, Khan, Suliman, Giarrana, Miriam Liliana, Teleanu, Raluca Ioana, Gonzalez, Joanna Michelle, Pini, Antonella, Schädlich, Ines Sophie, Vill, Katharina, Brugger, Melanie, Zuchner, Stephan, Pinto, Andreia, Donkervoort, Sandra, Bivona, Stephanie Ann, Riza, Anca, Streata, Ioana, Gläser, Dieter, Baquero-Montoya, Carolina, Garcia-Restrepo, Natalia, Kotzaeridou, Urania, Brunet, Theresa, Epure, Diana Anamaria, Bertoli-Avella, Aida, Kariminejad, Ariana, Tekin, Mustafa, von Hardenberg, Sandra, Bönnemann, Carsten G., Stettner, Georg M., Zanni, Ginevra, Kayserili, Hülya, Oflazer, Zehra Piraye, and Escande-Beillard, Nathalie
Published: 2024
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4. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Author: Töpf, Ana, Cox, Dan, Zaharieva, Irina T., Di Leo, Valeria, Sarparanta, Jaakko, Jonson, Per Harald, Sealy, Ian M., Smolnikov, Andrei, White, Richard J., Vihola, Anna, Savarese, Marco, Merteroglu, Munise, Wali, Neha, Laricchia, Kristen M., Venturini, Cristina, Vroling, Bas, Stenton, Sarah L., Cummings, Beryl B., Harris, Elizabeth, Marini-Bettolo, Chiara, Diaz-Manera, Jordi, Henderson, Matt, Barresi, Rita, Duff, Jennifer, England, Eleina M., Patrick, Jane, Al-Husayni, Sundos, Biancalana, Valerie, Beggs, Alan H., Bodi, Istvan, Bommireddipalli, Shobhana, Bönnemann, Carsten G., Cairns, Anita, Chiew, Mei-Ting, Claeys, Kristl G., Cooper, Sandra T., Davis, Mark R., Donkervoort, Sandra, Erasmus, Corrie E., Fassad, Mahmoud R., Genetti, Casie A., Grosmann, Carla, Jungbluth, Heinz, Kamsteeg, Erik-Jan, Lornage, Xavière, Löscher, Wolfgang N., Malfatti, Edoardo, Manzur, Adnan, Martí, Pilar, Mongini, Tiziana E., Muelas, Nuria, Nishikawa, Atsuko, O’Donnell-Luria, Anne, Ogonuki, Narumi, O’Grady, Gina L., O’Heir, Emily, Paquay, Stéphanie, Phadke, Rahul, Pletcher, Beth A., Romero, Norma B., Schouten, Meyke, Shah, Snehal, Smuts, Izelle, Sznajer, Yves, Tasca, Giorgio, Taylor, Robert W., Tuite, Allysa, Van den Bergh, Peter, VanNoy, Grace, Voermans, Nicol C., Wanschitz, Julia V., Wraige, Elizabeth, Yoshimura, Kimihiko, Oates, Emily C., Nakagawa, Osamu, Nishino, Ichizo, Laporte, Jocelyn, Vilchez, Juan J., MacArthur, Daniel G., Sarkozy, Anna, Cordell, Heather J., Udd, Bjarne, Busch-Nentwich, Elisabeth M., Muntoni, Francesco, and Straub, Volker
Published: 2024
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5. CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Author: Maio, Nunziata, Orbach, Rotem, Zaharieva, Irina T., Topf, Ana, Donkervoort, Sandra, Munot, Pinki, Mueller, Juliane, Willis, Tracey, Verma, Sumit, Peric, Stojan, Krishnakumar, Deepa, Sudhakar, Sniya, Foley, A. Reghan, Silverstein, Sarah, Douglas, Ganka, Pais, Lynn, DiTroia, Stephanie, Grunseich, Christopher, Hu, Ying, Sewry, Caroline, Sarkozy, Anna, Straub, Volker, Muntoni, Francesco, Rouault, Tracey A., and Bonnemann, Carsten G.
Subjects: Gene mutations -- Research, Cytoplasm -- Genetic aspects -- Health aspects, Medical research, Medicine, Experimental, Neuromuscular diseases -- Causes of -- Genetic aspects, Iron proteins -- Genetic aspects -- Health aspects, Enzymes -- Genetic aspects -- Health aspects, Health care industry
Abstract: Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a complex of CIAO1, MMS19 and FAM96B. The physiological consequences of loss of function in the components of the CIA pathway have thus far remained uncharacterized. Our study revealed that patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms. Mutational analysis revealed reduced stability of the variants compared with WT CIAO1. Functional assays demonstrated failure of the variants identified in patients to recruit Fe-S recipient proteins, resulting in compromised activities of DNA helicases, polymerases, and repair enzymes that rely on the CIA complex to acquire their Fe-S cofactors. Lentivirus-mediated restoration of CIAO1 expression reversed all patient-derived cellular abnormalities. Our study identifies CIAO1 as a human disease gene and provides insights into the broader implications of the cytosolic Fe-S assembly pathway in human health and disease., Introduction Iron-sulfur (Fe-S) clusters are ancient and evolutionarily conserved prosthetic groups with unique chemical properties that enable the proteins that contain them (Fe-S proteins) to function in several essential cellular [...]
Published: 2024
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6. Unraveling factors associated with textbook outcome after cholecystectomy in patients with uncomplicated cholecystolithiasis: A posthoc analysis of individual data of 1,124 patients

Author: Buyne, Otmar, Donkervoort, Sandra C., Heisterkamp, Joos, Hof, Klaas in ‘t, Diepenhorst, Gwen, van der Bilt, Jarmila, Jansen, Jan, Nieuwenhuijs, Vincent B., Steenvoorde, Pascal, Boerma, Djamila, Heikens, Joost T., Schreinemakers, Jennifer M.J., Wiering, Bastiaan, Stockmann, Hein B.A.C., van Duijvendijk, Peter, Boermeester, Marja A., Comes, Daan J., Thunnissen, Floris M., Latenstein, Carmen S.S., Stommel, Martijn W.J., van Laarhoven, Cornelis J.H.M., Drenth, Joost P.H., Atsma, Femke, Lantinga, Marten A., and de Reuver, Philip R.
Published: 2024
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7. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

Author: Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine R., Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, O’Heir, Emily, Ganesh, Vijay S., Wojcik, Monica H., Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha L., Neil, Jennifer E., Shao, Diane D., Walsh, Christopher A., Argilli, Emanuela, Le, Carolyn, Sherr, Elliott H., Gleeson, Joseph G., Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay G., Madden, Jill A., Genetti, Casie A., Beggs, Alan H., Agrawal, Pankaj B., Bujakowska, Kinga M., Place, Emily, Pierce, Eric A., Donkervoort, Sandra, Bönnemann, Carsten G., Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong Yang, White, Susan M., Töpf, Ana, Straub, Volker, Fleming, Mark D., Pollak, Martin R., Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten A., Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel G., MacArthur, Daniel G., Rehm, Heidi L., Talkowski, Michael E., Brand, Harrison, and O’Donnell-Luria, Anne
Published: 2024
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8. Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications

Author: Geist Hauserman, Janelle, Laverty, Chamindra G., Donkervoort, Sandra, Hu, Ying, Silverstein, Sarah, Neuhaus, Sarah B., Saade, Dimah, Vaughn, Gabrielle, Malicki, Denise, Kaur, Rupleen, Li, Yuesheng, Luo, Yan, Liu, Poching, Burr, Patrick, Foley, A. Reghan, Mohassel, Payam, and Bönnemann, Carsten G.
Published: 2024
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9. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Author: Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Konstantino, Monica, Leach, Meganne E., McCormick, David, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.
Published: 2024
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10. Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Author: Silverstein, Sarah, Orbach, Rotem, Syeda, Safoora, Foley, A. Reghan, Gorokhova, Svetlana, Meilleur, Katherine G., Leach, Meganne E., Uapinyoying, Prech, Chao, Katherine R., Donkervoort, Sandra, and Bönnemann, Carsten G.
Published: 2024
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11. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

Author: Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., and Natera-de Benito, Daniel
Published: 2023
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12. International retrospective natural history study of LMNA-related congenital muscular dystrophy

Author: Yaou, Rabah Ben, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D’Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Francesco, Muntoni F, Pierson, Tyler M, Gómez-Andrés, David, Foley, A Reghan, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle
Subjects: Biomedical and Clinical Sciences, Clinical Sciences, Brain Disorders, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Genetics, Cardiovascular, Clinical Research, Pediatric, Muscular Dystrophy, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Musculoskeletal, laminopathies, striated muscle, LMNA, early onset, muscular dystrophy, Clinical sciences, Neurosciences, Biological psychology
Abstract: Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.
Published: 2021

13. International retrospective natural history study of LMNA-related congenital muscular dystrophy.

Author: Ben Yaou, Rabah, Yun, Pomi, Dabaj, Ivana, Norato, Gina, Donkervoort, Sandra, Xiong, Hui, Nascimento, Andrés, Maggi, Lorenzo, Sarkozy, Anna, Monges, Soledad, Bertoli, Marta, Komaki, Hirofumi, Mayer, Michèle, Mercuri, Eugenio, Zanoteli, Edmar, Castiglioni, Claudia, Marini-Bettolo, Chiara, D'Amico, Adele, Deconinck, Nicolas, Desguerre, Isabelle, Erazo-Torricelli, Ricardo, Gurgel-Giannetti, Juliana, Ishiyama, Akihiko, Kleinsteuber, Karin S, Lagrue, Emmanuelle, Laugel, Vincent, Mercier, Sandra, Messina, Sonia, Politano, Luisa, Ryan, Monique M, Sabouraud, Pascal, Schara, Ulrike, Siciliano, Gabriele, Vercelli, Liliana, Voit, Thomas, Yoon, Grace, Alvarez, Rachel, Muntoni, Francesco, Pierson, Tyler M, Gómez-Andrés, David, Reghan Foley, A, Quijano-Roy, Susana, Bönnemann, Carsten G, and Bonne, Gisèle
Subjects: LMNA, early onset, laminopathies, muscular dystrophy, striated muscle
Abstract: Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, particularly in patients with congenital or early onset who arguably present with the highest disease burden. Thus the definition of natural history endpoints along with clinically revelant outcome measures is essential to establishing both clinical care planning and clinical trial readiness for this patient group. We designed a large international cross-sectional retrospective natural history study of patients with genetically proven muscle laminopathy who presented with symptoms before two years of age intending to identify and characterize an optimal clinical trial cohort with pertinent motor, cardiac and respiratory endpoints. Quantitative statistics were used to evaluate associations between LMNA variants and distinct clinical events. The study included 151 patients (median age at symptom onset 0.9 years, range: 0.0-2.0). Age of onset and age of death were significantly lower in patients who never acquired independent ambulation compared to patients who achieved independent ambulation. Most of the patients acquired independent ambulation (n = 101, 66.9%), and subsequently lost this ability (n = 86; 85%). The age of ambulation acquisition (median: 1.2 years, range: 0.8-4.0) and age of ambulation loss (median: 7 years, range: 1.2-38.0) were significantly associated with the age of the first respiratory interventions and the first cardiac symptoms. Respiratory and gastrointestinal interventions occurred during first decade while cardiac interventions occurred later. Genotype-phenotype analysis showed that the most common mutation, p.Arg249Trp (20%), was significantly associated with a more severe disease course. This retrospective natural history study of early onset LMNA-related muscular dystrophy confirms the progressive nature of the disorder, initially involving motor symptoms prior to onset of other symptoms (respiratory, orthopaedic, cardiac and gastrointestinal). The study also identifies subgroups of patients with a range of long-term outcomes. Ambulatory status was an important mean of stratification along with the presence or absence of the p.Arg249Trp mutation. These categorizations will be important for future clinical trial cohorts. Finally, this study furthers our understanding of the progression of early onset LMNA-related muscular dystrophy and provides important insights into the anticipatory care needs of LMNA-related respiratory and cardiac manifestations.
Published: 2021

14. Persistent and new-onset symptoms after cholecystectomy in patients with uncomplicated symptomatic cholecystolithiasis: A post hoc analysis of 2 prospective clinical trials

Author: Buyne, Otmar, Donkervoort, Sandra C., Heisterkamp, Joos, ’t Hof, Klaas in, Jansen, Jan, Nieuwenhuijs, Vincent B., Schaap, Henk M., Steenvoorde, Pascal, Boerma, Djamila, Hazebroek, Eric J., Hirsch, David, Heikens, Joost T., Konsten, Joop, Polat, Fatih, van der Bilt, Jarmila D.W., Schreinemakers, Jennifer M.J., Wiering, Bastiaan, Stockmann, Hein B.A.C., Boermeester, Marja, Thunnissen, Floris M., Baars, Cléo, Arts, Rianne, Latenstein, Carmen S.S., Drenth, Joost P.H., van Laarhoven, Cornelis J.H.M., Lantinga, Marten A., and de Reuver, Philip R.
Published: 2023
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15. The expanding clinical and genetic spectrum of DYNC1H1-related disorders

Author: Möller, Birk, primary, Becker, Lena-Luise, additional, Saffari, Afshin, additional, Afenjar, Alexandra, additional, Coci, Emanuele G, additional, Williamson, Rachel, additional, Ward-Melver, Catherine, additional, Gibaud, Marc, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Libá, Zuzana, additional, Vlčková, Markéta, additional, William, Nancy, additional, Klee, Eric W, additional, Gavrilova, Ralitza H, additional, Lévy, Jonathan, additional, Capri, Yline, additional, Scavina, Mena, additional, Körner, Robert Walter, additional, Valuvullah, Zaheer, additional, Weiß, Claudia, additional, Möller, Greta Marit, additional, Thiel, Moritz, additional, Sinnema, Margje, additional, Kamsteeg, Erik-Jan, additional, Donkervoort, Sandra, additional, Duboc, Veronique, additional, Zaafrane-Khachnaoui, Khaoula, additional, Elkhateeb, Nour, additional, Selim, Laila, additional, Margot, Henri, additional, Marin, Victor, additional, Beneteau, Claire, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Keren, Boris, additional, Küsters, Benno, additional, Beggs, Alan H, additional, Genetti, Casie A, additional, Nicolai, Joost, additional, Dötsch, Jörg, additional, Koy, Anne, additional, Bönnemann, Carsten G, additional, von der Hagen, Maja, additional, von Kleist-Retzow, Jürgen-Christoph, additional, Voermans, Nicol, additional, Jungbluth, Heinz, additional, and Dafsari, Hormos Salimi, additional
Published: 2024
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16. Genome Sequencing for Diagnosing Rare Diseases

Author: Wojcik, Monica H., primary, Lemire, Gabrielle, additional, Berger, Eva, additional, Zaki, Maha S., additional, Wissmann, Mariel, additional, Win, Wathone, additional, White, Susan M., additional, Weisburd, Ben, additional, Wieczorek, Dagmar, additional, Waddell, Leigh B., additional, Verboon, Jeffrey M., additional, VanNoy, Grace E., additional, Töpf, Ana, additional, Tan, Tiong Yang, additional, Syrbe, Steffen, additional, Strehlow, Vincent, additional, Straub, Volker, additional, Stenton, Sarah L., additional, Snow, Hana, additional, Singer-Berk, Moriel, additional, Silver, Josh, additional, Shril, Shirlee, additional, Seaby, Eleanor G., additional, Schneider, Ronen, additional, Sankaran, Vijay G., additional, Sanchis-Juan, Alba, additional, Russell, Kathryn A., additional, Reinson, Karit, additional, Ravenscroft, Gianina, additional, Radtke, Maximilian, additional, Popp, Denny, additional, Polster, Tilman, additional, Platzer, Konrad, additional, Pierce, Eric A., additional, Place, Emily M., additional, Pajusalu, Sander, additional, Pais, Lynn, additional, Õunap, Katrin, additional, Osei-Owusu, Ikeoluwa, additional, Opperman, Henry, additional, Okur, Volkan, additional, Oja, Kaisa Teele, additional, O’Leary, Melanie, additional, O’Heir, Emily, additional, Morel, Chantal F., additional, Merkenschlager, Andreas, additional, Marchant, Rhett G., additional, Mangilog, Brian E., additional, Madden, Jill A., additional, MacArthur, Daniel, additional, Lovgren, Alysia, additional, Lerner-Ellis, Jordan P., additional, Lin, Jasmine, additional, Laing, Nigel, additional, Hildebrandt, Friedhelm, additional, Hentschel, Julia, additional, Groopman, Emily, additional, Goodrich, Julia, additional, Gleeson, Joseph G., additional, Ghaoui, Roula, additional, Genetti, Casie A., additional, Gburek-Augustat, Janina, additional, Gazda, Hanna T., additional, Ganesh, Vijay S., additional, Ganapathi, Mythily, additional, Gallacher, Lyndon, additional, Fu, Jack M., additional, Evangelista, Emily, additional, England, Eleina, additional, Donkervoort, Sandra, additional, DiTroia, Stephanie, additional, Cooper, Sandra T., additional, Chung, Wendy K., additional, Christodoulou, John, additional, Chao, Katherine R., additional, Cato, Liam D., additional, Bujakowska, Kinga M., additional, Bryen, Samantha J., additional, Brand, Harrison, additional, Bönnemann, Carsten G., additional, Beggs, Alan H., additional, Baxter, Samantha M., additional, Bartolomaeus, Tobias, additional, Agrawal, Pankaj B., additional, Talkowski, Michael, additional, Austin-Tse, Christina, additional, Abou Jamra, Rami, additional, Rehm, Heidi L., additional, and O’Donnell-Luria, Anne, additional
Published: 2024
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17. Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy

Author: Foley, A. Reghan, primary, Yun, Pomi, additional, Leach, Meganne E., additional, Neuhaus, Sarah B., additional, Averion, Gilberto V., additional, Hu, Ying, additional, Hayes, Leslie H., additional, Donkervoort, Sandra, additional, Jain, Minal S., additional, Waite, Melissa, additional, Parks, Rebecca, additional, Bharucha-Goebel, Diana X., additional, Mayer, Oscar H., additional, Zou, Yaqun, additional, Fink, Margaret, additional, DeCoster, Jameice, additional, Mendoza, Christopher, additional, Arévalo, Cynthia, additional, Hausmann, Rudolf, additional, Petraki, Diana, additional, Cheung, Ken, additional, and Bönnemann, Carsten G., additional
Published: 2024
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18. Effects of HMGCR deficiency on skeletal muscle development

Author: Gunasekaran, Mekala, primary, Littel, Hannah R, additional, Wells, Natalya M, additional, Turner, Johnnie, additional, Campos, Gloriana, additional, Venigalla, Sree, additional, Estrella, Elicia A, additional, Ghosh, Partha S, additional, Daugherty, Audrey L, additional, Stafki, Seth A, additional, Kunkel, Louis M, additional, Foley, A Reghan, additional, Donkervoort, Sandra, additional, Bonnemann, Carsten G, additional, Toledo Bravo de Laguna, Laura, additional, Nascimento, Andres, additional, Natera de Benito, Daniel, additional, Draper, Isabelle, additional, Bruels, Christine C, additional, Pacak, Christina A, additional, and Kang, Peter B, additional
Published: 2024
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19. Unraveling factors associated with textbook outcome after cholecystectomy in patients with uncomplicated cholecystolithiasis: A posthoc analysis of individual data of 1,124 patients

Author: Comes, Daan J., primary, Thunnissen, Floris M., additional, Latenstein, Carmen S.S., additional, Stommel, Martijn W.J., additional, van Laarhoven, Cornelis J.H.M., additional, Drenth, Joost P.H., additional, Atsma, Femke, additional, Lantinga, Marten A., additional, de Reuver, Philip R., additional, Buyne, Otmar, additional, Donkervoort, Sandra C., additional, Heisterkamp, Joos, additional, Hof, Klaas in ‘t, additional, Diepenhorst, Gwen, additional, van der Bilt, Jarmila, additional, Jansen, Jan, additional, Nieuwenhuijs, Vincent B., additional, Steenvoorde, Pascal, additional, Boerma, Djamila, additional, Heikens, Joost T., additional, Schreinemakers, Jennifer M.J., additional, Wiering, Bastiaan, additional, Stockmann, Hein B.A.C., additional, van Duijvendijk, Peter, additional, and Boermeester, Marja A., additional
Published: 2024
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20. Bilateral Focal Venous Malformations of the Breasts

Author: Bachour, Yara, primary and Donkervoort, Sandra C., additional
Published: 2024
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21. Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.

Author: Cocanougher, Benjamin T, Flynn, Lauren, Yun, Pomi, Jain, Minal, Waite, Melissa, Vasavada, Ruhi, Wittenbach, Jason D, de Chastonay, Sabine, Chhibber, Sameer, Innes, A Micheil, MacLaren, Linda, Mozaffar, Tahseen, Arai, Andrew E, Donkervoort, Sandra, Bönnemann, Carsten G, and Foley, A Reghan
Subjects: Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Biomedical Imaging, Clinical Research, Neurosciences, Musculoskeletal, Adult, Cohort Studies, Female, Heterozygote, Humans, Male, Middle Aged, Muscle Weakness, Muscle, Skeletal, Mutation, Myopathies, Structural, Congenital, Phenotype, Protein Tyrosine Phosphatases, Non-Receptor, Cognitive Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract: ObjectiveTo better characterize adult myotubularin 1 (MTM1)-related myopathy carriers and recommend a phenotypic classification.MethodsThis cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed MTM1 mutation and were recruited via the Congenital Muscle Disease International Registry (n = 8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH and Cure CMD (n = 1), and direct physician referral (n = 1). Neuromuscular examinations, muscle MRI, dynamic breathing MRI, cardiac MRI, pulmonary function tests (PFTs), physical therapy assessments including the Motor Function Measure 32 (MFM-32) scale, and X chromosome inactivation (XCI) studies were performed.ResultsPhenotypic categories were proposed based on ambulatory status and muscle weakness. Carriers were categorized as severe (nonambulatory; n = 1), moderate (minimal independent ambulation/assisted ambulation; n = 3), mild (independent ambulation but with evidence of muscle weakness; n = 4), and nonmanifesting (no evidence of muscle weakness; n = 2). Carriers with more severe muscle weakness exhibited greater degrees of respiratory insufficiency and abnormal signal on muscle imaging. Skeletal asymmetries were evident in both manifesting and nonmanifesting carriers. Skewed XCI did not explain phenotypic severity.ConclusionThis work illustrates the phenotypic range of MTM1-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, PFT, and MFM-32 scale composite score findings, which may serve as markers of disease progression and outcome measures in future gene therapy or other clinical trials.
Published: 2019

22. Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Author: Kim, Hong Joo, Mohassel, Payam, Donkervoort, Sandra, Guo, Lin, O’Donovan, Kevin, Coughlin, Maura, Lornage, Xaviere, Foulds, Nicola, Hammans, Simon R., Foley, A. Reghan, Fare, Charlotte M., Ford, Alice F., Ogasawara, Masashi, Sato, Aki, Iida, Aritoshi, Munot, Pinki, Ambegaonkar, Gautam, Phadke, Rahul, O’Donovan, Dominic G., Buchert, Rebecca, Grimmel, Mona, Töpf, Ana, Zaharieva, Irina T., Brady, Lauren, Hu, Ying, Lloyd, Thomas E., Klein, Andrea, Steinlin, Maja, Kuster, Alice, Mercier, Sandra, Marcorelles, Pascale, Péréon, Yann, Fleurence, Emmanuelle, Manzur, Adnan, Ennis, Sarah, Upstill-Goddard, Rosanna, Bello, Luca, Bertolin, Cinzia, Pegoraro, Elena, Salviati, Leonardo, French, Courtney E., Shatillo, Andriy, Raymond, F. Lucy, Haack, Tobias B., Quijano-Roy, Susana, Böhm, Johann, Nelson, Isabelle, Stojkovic, Tanya, Evangelista, Teresinha, Straub, Volker, Romero, Norma B., Laporte, Jocelyn, Muntoni, Francesco, Nishino, Ichizo, Tarnopolsky, Mark A., Shorter, James, Bönnemann, Carsten G., and Taylor, J. Paul
Published: 2022
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23. A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene.

Author: Plewa, Jake, Surampalli, Abhilasha, Wencel, Marie, Milad, Merit, Donkervoort, Sandra, Kimonis, Virginia, Mozaffar, Tahseen, Caiozzo, Vincent, and Goyal, Namita
Subjects: Dynamometry, IBMFRS, IBMPFD, Inclusion Body Myopathy, Paget disease, VCP, Adult, Cross-Sectional Studies, Female, Frontotemporal Dementia, Humans, Male, Middle Aged, Muscular Dystrophies, Limb-Girdle, Mutation, Myositis, Inclusion Body, Osteitis Deformans, Severity of Illness Index, Valosin Containing Protein
Abstract: Inclusion body myopathy (IBM) associated with Paget disease of the bone and frontotemporal dementia or IBMPFD is an autosomal dominant degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene. We aim to establish a detailed clinical phenotype of VCP disease amongst 35 (28 affected individuals, 7 presymptomatic gene carriers) individuals versus 14 unaffected first-degree relatives in 14 families to establish useful biomarkers for IBMPFD and identify the most meaningful tests for monitoring disease progression in future clinical trials. Comprehensive studies included the Inclusion Body Myositis Functional Rating Scale (IBMFRS) and fatigue severity scale questionairres, strength measurements using the Manual Muscle Test with Medical Research Council (MRC) scales, hand-held dynamometry using the microFET and Biodex dynamometers, 6 minute walk test (6MWT), and pulmonary function studies. Strong correlation was observed between the IBMFRS and measurements of muscle strength with dynamometry and the other functional tests, indicating that it may be utilized in long-term follow-up assessments due to its relative simplicity. This cross-section study represents the most comprehensive evaluation of individuals with VCP disease to date and provides a useful guide for evaluating and possible monitoring of muscle weakness and pulmonary function progression in this unique cohort of individuals.
Published: 2018

24. A Novel COL11A1 Variant in a Child with Neuromuscular Findings: Expanding the Genotypic and Phenotypic Spectrum of COL11A1-related Disease (P4-8.003)

Author: McAnally, Meghan, primary, Potticary, Abigail, additional, Donkervoort, Sandra, additional, Hu, Ying, additional, Pais, Lynn, additional, Huryn, Laryssa, additional, Foley, A. Reghan, additional, and Bonnemann, Carsten, additional
Published: 2024
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25. Childhood Onset Amyotrophic Lateral Sclerosis Associated with SPTLC2 Gain-of-Function Pathogenic Variants: Clinical, Genetic, and Biochemical Insights (P4-8.001)

Author: Orbach, Rotem, primary, Syeda, Safoora, additional, Mohassel, Payam, additional, Dohrn, Maike, additional, Lone, Museer A., additional, Donkervoort, Sandra, additional, Foley, A. Reghan, additional, Beijer, Danique, additional, Bayraktar, Elif, additional, Oflazer, Piraye, additional, Munot, Pinki, additional, Rose, Aubrey, additional, Lyons, Michael, additional, Louie, Raymond, additional, Gable, Kenneth, additional, Franca, Marcondes C., additional, Galarza-Brito, Juan E., additional, Eckenweiler, Matthias, additional, Asamoah, Alexander, additional, Majumdar, Anirban, additional, Shieh, Perry, additional, Schumann, Anke, additional, Gupta, Sita D., additional, Lakhotia, Arpita, additional, Jackson, Kelly, additional, Chao, Kathrine R., additional, Winder, Thomas, additional, Catapano, Francesco, additional, Feng, Lucy, additional, Kirschner, Janbernd, additional, Chen, Sitong, additional, Danzi, Matt, additional, Synofzik, Matthis, additional, Muntoni, Francesco, additional, Başak, A. Nazli, additional, Dunn, Teresa M., additional, Hornemann, Thorsten, additional, Zuchner, Stephan, additional, and Bonnemann, Carsten, additional
Published: 2024
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26. Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

Author: Donkervoort, Sandra, primary, van de Locht, Martijn, additional, Ronchi, Dario, additional, Reunert, Janine, additional, McLean, Catriona A., additional, Zaki, Maha, additional, Orbach, Rotem, additional, de Winter, Josine M., additional, Conijn, Stefan, additional, Hoomoedt, Daan, additional, Neto, Osorio Lopes Abath, additional, Magri, Francesca, additional, Viaene, Angela N., additional, Foley, A. Reghan, additional, Gorokhova, Svetlana, additional, Bolduc, Véronique, additional, Hu, Ying, additional, Acquaye, Nicole, additional, Napoli, Laura, additional, Park, Julien H., additional, Immadisetty, Kalyan, additional, Miles, Lee B., additional, Essawi, Mona, additional, McModie, Salar, additional, Ferreira, Leonardo F., additional, Zanotti, Simona, additional, Neuhaus, Sarah B., additional, Medne, Livija, additional, ElBagoury, Nagham, additional, Johnson, Kory R., additional, Zhang, Yong, additional, Laing, Nigel G., additional, Davis, Mark R., additional, Bryson-Richardson, Robert J., additional, Hwee, Darren T., additional, Hartman, James J., additional, Malik, Fady I., additional, Kekenes-Huskey, Peter M., additional, Comi, Giacomo Pietro, additional, Sharaf-Eldin, Wessam, additional, Marquardt, Thorsten, additional, Ravenscroft, Gianina, additional, Bönnemann, Carsten G., additional, and Ottenheijm, Coen A. C., additional
Published: 2024
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27. The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

Author: Foley, A. Reghan, primary, Bolduc, Veronique, additional, Guirguis, Fady, additional, Donkervoort, Sandra, additional, Hu, Ying, additional, Orbach, Rotem, additional, McCarty, Riley M., additional, Sarathy, Apurva, additional, Norato, Gina, additional, Cummings, Beryl B., additional, Lek, Monkol, additional, Sarkozy, Anna, additional, Butterfield, Russell J., additional, Kirschner, Janbernd, additional, Nascimento, Andres, additional, Natera-de Benito, Daniel, additional, Quijano-Roy, Susana, additional, Stojkovic, Tanya, additional, Merlini, Luciano, additional, Comi, Giacomo, additional, Ryan, Monique, additional, McDonald, Denise, additional, Munot, Pinki, additional, Yoon, Grace, additional, Leung, Edward, additional, Finanger, Erika, additional, Leach, Meganne E., additional, Collins, James, additional, Tian, Cuixia, additional, Mohassel, Payam, additional, Neuhaus, Sarah B., additional, Saade, Dimah, additional, Cocanougher, Benjamin, additional, Chu, Mary-Lynn, additional, Scavina, Mena, additional, Grosmann, Carla, additional, Randal, Richardson, additional, Kossak, Brian D., additional, Gospe, Sidney M., additional, Bhise, Vikram, additional, Taurina, Gita, additional, Lace, Baiba, additional, Troncoso, Monica, additional, Shohat, Mordechai, additional, Shalata, Adel, additional, Chan, Sophelia H.S., additional, Jokela, Manu, additional, Palmio, Johanna, additional, Haliloglu, Goknur, additional, Jou, Cristina, additional, Gartioux, Corine, additional, Solomon-Degefa, Herimela, additional, Freiburg, Carolin D., additional, Schiavinato, Alvise, additional, Zhou, Haiyan, additional, Aguti, Sara, additional, Nevo, Yoram, additional, Nishino, Ichizo, additional, Jimenez-Mallebrera, Cecilia, additional, Lamande, Shireen R., additional, Allamand, Valerie, additional, Gualandi, Francesca, additional, Ferlini, Alessandra, additional, MacArthur, Daniel, additional, Wilton, Steve D., additional, Wagener, Raimund, additional, Bertini, Enrico, additional, Muntoni, Francesco, additional, and Bonnemann, Carsten G., additional
Published: 2024
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28. Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Author: Silverstein, Sarah, primary, Orbach, Rotem, additional, Syeda, Safoora, additional, Reghan Foley, A, additional, Gorokhova, Svetlana, additional, Meilleur, Katherine G., additional, Leach, Meganne E., additional, Uapinyoying, Prech, additional, Chao, Katherine R, additional, Donkervoort, Sandra, additional, and Bönnemann, Carsten G., additional
Published: 2024
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29. Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets

Author: Weisburd, Ben, primary, Sharma, Rakshya, additional, Pata, Villem, additional, Reimand, Tiia, additional, Ganesh, Vijay S., additional, Austin-Tse, Christina, additional, Osei-Owusu, Ikeoluwa, additional, O'Heir, Emily, additional, O'Leary, Melanie, additional, Pais, Lynn, additional, Stafki, Seth A., additional, Daugherty, Audrey L., additional, Bonnemann, Carsten G., additional, Donkervoort, Sandra, additional, Haliloglu, Goknur, additional, Kang, Peter B., additional, Ravenscroft, Gianina, additional, Laing, Nigel, additional, Scott, Hamish S., additional, Topf, Ana, additional, Straub, Volker, additional, Pajusalu, Sander, additional, Ounap, Katrin, additional, Tiao, Grace, additional, Rehm, Heidi L., additional, and O'Donnell-Luria, Anne, additional
Published: 2024
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30. Clinical, immunohistochemical and genetic characterization of splice-altering biallelic DES variants: therapeutic implications

Author: Hauserman, Janelle Geist, primary, Laverty, Chamindra G., additional, Donkervoort, Sandra, additional, Hu, Ying, additional, Silverstein, Sarah, additional, Neuhaus, Sarah B., additional, Saade, Dimah, additional, Vaughn, Gabrielle, additional, Malicki, Denise, additional, Kaur, Rupleen, additional, Li, Yuesheng, additional, Luo, Yan, additional, Liu, Poching, additional, Burr, Patrick, additional, Foley, A. Reghan, additional, Mohassel, Payam, additional, and Bönnemann, Carsten G., additional
Published: 2024
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31. Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Author: Mohassel, Payam, Donkervoort, Sandra, Lone, Museer A., Nalls, Matthew, Gable, Kenneth, Gupta, Sita D., Foley, A. Reghan, Hu, Ying, Saute, Jonas Alex Morales, Moreira, Ana Lucila, Kok, Fernando, Introna, Alessandro, Logroscino, Giancarlo, Grunseich, Christopher, Nickolls, Alec R., Pourshafie, Naemeh, Neuhaus, Sarah B., Saade, Dimah, Gangfuß, Andrea, Kölbel, Heike, Piccus, Zoe, Le Pichon, Claire E., Fiorillo, Chiara, Ly, Cindy V., Töpf, Ana, Brady, Lauren, Specht, Sabine, Zidell, Aliza, Pedro, Helio, Mittelmann, Eric, Thomas, Florian P., Chao, Katherine R., Konersman, Chamindra G., Cho, Megan T., Brandt, Tracy, Straub, Volker, Connolly, Anne M., Schara, Ulrike, Roos, Andreas, Tarnopolsky, Mark, Höke, Ahmet, Brown, Robert H., Lee, Chia-Hsueh, Hornemann, Thorsten, Dunn, Teresa M., and Bönnemann, Carsten G.
Published: 2021
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32. Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes

Author: Maio, Nunziata, primary, Orbach, Rotem, additional, Zaharieva, Irina, additional, Töpf, Ana, additional, Donkervoort, Sandra, additional, Munot, Pinki, additional, Mueller, Juliane, additional, Willis, Tracey, additional, Verma, Sumit, additional, Peric, Stojan, additional, Krishnakumar, Deepa, additional, Sudhakar, Sniya, additional, Foley, Aileen Reghan, additional, Silverstein, Sarah, additional, Douglas, Ganka, additional, Pais, Lynn, additional, DiTroia, Stephanie, additional, Grunseich, Christopher, additional, Hu, Ying, additional, Sewry, Caroline, additional, Sarkozy, Anna, additional, Straub, Volker, additional, Muntoni, Francesco, additional, Rouault, Tracey, additional, and Bönnemann, Carsten Gerhart, additional
Published: 2023
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33. Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Author: Dohrn, Maike F, primary, Beijer, Danique, additional, Lone, Museer A, additional, Bayraktar, Elif, additional, Oflazer, Piraye, additional, Orbach, Rotem, additional, Donkervoort, Sandra, additional, Foley, A Reghan, additional, Rose, Aubrey, additional, Lyons, Michael, additional, Louie, Raymond J, additional, Gable, Kenneth, additional, Dunn, Teresa, additional, Chen, Sitong, additional, Danzi, Matt C, additional, Synofzik, Matthis, additional, Bönnemann, Carsten G, additional, Nazlı Başak, A, additional, Hornemann, Thorsten, additional, and Zuchner, Stephan, additional
Published: 2023
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34. Recurrent de novoSPTLC2variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis

Author: Syeda, Safoora B, primary, Lone, Museer A, additional, Mohassel, Payam, additional, Donkervoort, Sandra, additional, Munot, Pinki, additional, França, Marcondes C, additional, Galarza-Brito, Juan Eli, additional, Eckenweiler, Matthias, additional, Asamoah, Alexander, additional, Gable, Kenneth, additional, Majumdar, Anirban, additional, Schumann, Anke, additional, Gupta, Sita D, additional, Lakhotia, Arpita, additional, Shieh, Perry B, additional, Foley, A Reghan, additional, Jackson, Kelly E, additional, Chao, Katherine R, additional, Winder, Thomas L, additional, Catapano, Francesco, additional, Feng, Lucy, additional, Kirschner, Janbernd, additional, Muntoni, Francesco, additional, Dunn, Teresa M, additional, Hornemann, Thorsten, additional, and Bönnemann, Carsten G, additional
Published: 2023
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35. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Author: Jeffries, Lauren, primary, Mis, Emily K., additional, McWalter, Kirsty, additional, Donkervoort, Sandra, additional, Brodsky, Nina N., additional, Carpier, Jean-Marie, additional, Ji, Weizhen, additional, Ionita, Cristian, additional, Roy, Bhaskar, additional, Morrow, Jon S., additional, Darbinyan, Armine, additional, Iyer, Krishna, additional, Aul, Ritu B., additional, Banka, Siddharth, additional, Chao, Katherine R., additional, Cobbold, Laura, additional, Cohen, Stacey, additional, Custodio, Helena M., additional, Drummond-Borg, Margaret, additional, Elmslie, Frances, additional, Finanger, Erika, additional, Hainline, Bryan E., additional, Helbig, Ingo, additional, Hewson, Stacy, additional, Hu, Ying, additional, Jackson, Adam, additional, Josifova, Dragana, additional, Konstantino, Monica, additional, Leach, Meganne E., additional, Mak, Bryan, additional, McCormick, David, additional, McGee, Elisabeth, additional, Nelson, Stanley, additional, Nguyen, Joanne, additional, Nugent, Kimberly, additional, Ortega, Lucy, additional, Goodkin, Howard P., additional, Roeder, Elizabeth, additional, Roy, Sani, additional, Sapp, Katie, additional, Saade, Dimah, additional, Sisodiya, Sanjay M., additional, Stals, Karen, additional, Towner, Shelley, additional, Wilson, William, additional, Khokha, Mustafa K., additional, Bönnemann, Carsten G., additional, Lucas, Carrie L., additional, Lakhani, Saquib A., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Agrawal, Pankaj B., additional, Alejandro, Mercedes E., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D'Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Deardorff, Matthew, additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Falk, Marni, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Findley, Laurie C., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Glass, Ian, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldman, Alica M., additional, Goldstein, David B., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Gutierrez, Irma, additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Johnston, Jean M., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kennedy, Jennifer, additional, Kiley, Dana, additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C Christopher, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Christine V Malicdan, May, additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Mefford, Heather, additional, Merritt, J Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nakano-Okuno, Mariko, additional, Nath, Avi, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Rao, Deepak A., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Scott, C Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solem, Emily, additional, Solnica-Krezel, Lilianna, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Tucker, Brianna M., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-Kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Wener, Mark, additional, Wenger, Tara, additional, Perry, Katherine Wesseling, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, Ambrose, J.C., additional, Arumugam, P., additional, Baple, E.L., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, FurióTarí, P., additional, Hackett, J.M., additional, Halai, D., additional, Hamblin, A., additional, Henderson, S., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Ibáñez, K., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, MaleadyCrowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Riesgo-Ferreiro, P., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Sultana, R., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, and Witkowska, K., additional
Published: 2023
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36. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Author: Kour, Sukhleen, Rajan, Deepa S., Fortuna, Tyler R., Anderson, Eric N., Ward, Caroline, Lee, Youngha, Lee, Sangmoon, Shin, Yong Beom, Chae, Jong-Hee, Choi, Murim, Siquier, Karine, Cantagrel, Vincent, Amiel, Jeanne, Stolerman, Elliot S., Barnett, Sarah S., Cousin, Margot A., Castro, Diana, McDonald, Kimberly, Kirmse, Brian, Nemeth, Andrea H., Rajasundaram, Dhivyaa, Innes, A. Micheil, Lynch, Danielle, Frosk, Patrick, Collins, Abigail, Gibbons, Melissa, Yang, Michele, Desguerre, Isabelle, Boddaert, Nathalie, Gitiaux, Cyril, Rydning, Siri Lynne, Selmer, Kaja K., Urreizti, Roser, Garcia-Oguiza, Alberto, Osorio, Andrés Nascimento, Verdura, Edgard, Pujol, Aurora, McCurry, Hannah R., Landers, John E., Agnihotri, Sameer, Andriescu, E. Corina, Moody, Shade B., Phornphutkul, Chanika, Sacoto, Maria J. Guillen, Begtrup, Amber, Houlden, Henry, Kirschner, Janbernd, Schorling, David, Rudnik-Schöneborn, Sabine, Strom, Tim M., Leiz, Steffen, Juliette, Kali, Richardson, Randal, Yang, Ying, Zhang, Yuehua, Wang, Minghui, Wang, Jia, Wang, Xiaodong, Platzer, Konrad, Donkervoort, Sandra, Bönnemann, Carsten G., Wagner, Matias, Issa, Mahmoud Y., Elbendary, Hasnaa M., Stanley, Valentina, Maroofian, Reza, Gleeson, Joseph G., Zaki, Maha S., Senderek, Jan, and Pandey, Udai Bhan
Published: 2021
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37. Innocuous pressure sensation requires A-type afferents but not functional ΡΙΕΖΟ2 channels in humans

Author: Case, Laura K., Liljencrantz, Jaquette, Madian, Nicholas, Necaise, Aaron, Tubbs, Justin, McCall, Micaela, Bradson, Megan L., Szczot, Marcin, Pitcher, Mark H., Ghitani, Nima, Frangos, Eleni, Cole, Jonathan, Bharucha-Goebel, Diana, Saade, Dimah, Ogata, Tracy, Donkervoort, Sandra, Foley, A. Reghan, Bönnemann, Carsten G., Olausson, Håkan, Bushnell, M. Catherine, and Chesler, Alexander T.
Published: 2021
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38. A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report

Author: Sirisena, Nirmala Dushyanthi, Samaranayake, U. M. Jayami Eshana, Neto, Osorio Lopes Abath, Foley, A. Reghan, Pathirana, B. A. P. Sajeewani, Neththikumara, Nilaksha, Paththinige, C. Sampath, Rathnayake, Pyara, Donkervoort, Sandra, Bönnemann, Carsten G., and Dissanayake, Vajira H. W.
Published: 2021
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39. Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants

Author: Mohassel, Payam, Chang, Ning, Inoue, Kaoru, Delaney, Angela, Hu, Ying, Donkervoort, Sandra, Saade, Dimah, Billioux, B. Jeanne, Meader, Brooke, Volochayev, Rita, Konersman, Chamindra G., Kaindl, Angela M., Cho, Chie-Hee, Russell, Bianca, Rodriguez, Adrian, Foster, K. Wade, Foley, A. Reghan, Moore, Steven A., Jones, Peter L., Bonnemann, Carsten G., Jones, Takako, and Shaw, Natalie D.
Published: 2022
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40. Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.

Author: Surampalli, Abhilasha, Khare, Manaswitha, Kubrussi, Georgette, Wencel, Marie, Tanaja, Jasmin, Donkervoort, Sandra, Simon, Mariella, Wallace, Douglas, Smith, Charles, M McInerney-Leo, Aideen, Kimonis, Virginia, and Osann, Kathryn
Subjects: Hospital anxiety and depression scale, Huntington’s disease, Neurodegenerative, Paget’s disease, Presymptomatic genetic testing, Adult, Anxiety, Cohort Studies, Female, Frontotemporal Dementia, Genetic Counseling, Genetic Predisposition to Disease, Genetic Testing, Humans, Male, Middle Aged, Myositis, Inclusion Body, Osteitis Deformans
Abstract: Inclusion Body Myopathy associated with Pagets disease of bone and Fronto-temporal Dementia, also known as multisystem proteinopathy is an autosomal dominant, late onset neurodegenerative disorder caused by mutations in Valosin containing protein (VCP) gene. This study aimed to assess uptake and decision making for predictive genetic testing and the impact on psychological well-being. Individuals who had participated in the gene discovery study with a 50 % a priori risk of inheriting VCP disease were sent a letter of invitation offering genetic counseling and testing and were also invited to participate in this psychosocial study. A total of 102 individuals received an invitation and 33 individuals participated in genetic counseling and testing (32.3 %) with 29 completing baseline questionnaires. Twenty completed the follow-up post-test Hospital Anxiety and Depression Scale questionnaire including 13 of the 18 who had tested positive. Mean risk perception at baseline was 50.1 %. Reasons for testing included planning for the future, relieving uncertainty, informing children and satisfying curiosity. At baseline, one quarter of the participants had high levels of anxiety. However, scores were normal one year following testing. In this small cohort, one third of individuals at 50 % risk chose pre-symptomatic testing. Although one quarter of those choosing testing had high anxiety at baseline, this was not evident at follow-up.
Published: 2015

41. Clinical, Pathologic, and Mutational Spectrum of Dystroglycanopathy Caused by LARGE Mutations

Author: Meilleur, Katherine G, Zukosky, Kristen, Medne, Livija, Fequiere, Pierre, Powell-Hamilton, Nina, Winder, Thomas L, Alsaman, Abdulaziz, El-Hattab, Ayman W, Dastgir, Jahannaz, Hu, Ying, Donkervoort, Sandra, Golden, Jeffrey A, Eagle, Ralph, Finkel, Richard, Scavina, Mena, Hood, Ian C, Rorke-Adams, Lucy B, and Bönnemann, Carsten G
Subjects: Neurodegenerative, Pediatric, Genetics, Muscular Dystrophy, Congenital Structural Anomalies, Neurosciences, Intellectual and Developmental Disabilities (IDD), Rare Diseases, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Congenital, Child, Child, Preschool, Dystroglycans, Fatal Outcome, Female, Homozygote, Humans, Infant, Male, Muscular Dystrophies, Mutation, N-Acetylglucosaminyltransferases, Pedigree, Polymorphism, Single Nucleotide, Clinical Sciences, Neurology & Neurosurgery
Abstract: Dystroglycanopathies are a subtype of congenital muscular dystrophy of varying severity that can affect the brain and eyes, ranging from Walker-Warburg syndrome with severe brain malformation to milder congenital muscular dystrophy presentations with affected or normal cognition and later onset. Mutations in dystroglycanopathy genes affect a specific glycoepitope on α-dystroglycan; of the 14 genes implicated to date, LARGE encodes the glycosyltransferase that adds the final xylose and glucuronic acid, allowing α-dystroglycan to bind ligands, including laminin 211 and neurexin. Only 11 patients with LARGE mutations have been reported. We report the clinical, neuroimaging, and genetic features of 4 additional patients. We confirm that gross deletions and rearrangements are important mutational mechanisms for LARGE. The brain abnormalities overshadowed the initially mild muscle phenotype in all 4 patients. We present the first comprehensive postnatal neuropathology of the brain, spinal cord, and eyes of a patient with a homozygous LARGE mutation at Cys443. In this patient, polymicrogyria was the predominant cortical malformation; densely festooned polymicrogyria were overlaid by a continuous agyric surface. In view of the severity of these abnormalities, Cys443 may be a functionally important residue in the LARGE protein, whereas the mutation p.Glu509Lys of Patient 1 in this study may confer a milder phenotype. Overall, these results expand the clinical and genetic spectrum of dystroglycanopathy.
Published: 2014

42. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome.

Author: Esmailpour, Taraneh, Riazifar, Hamidreza, Liu, Linan, Donkervoort, Sandra, Huang, Vincent, Madaan, Shreshtha, Shoucri, Bassem, Busch, Anke, Wu, Jie, Towbin, Alexander, Chadwick, Robert, Sequeira, Adolfo, Vawter, Marquis, Sun, Guoli, Johnston, Jennifer, Biesecker, Leslie, Kawaguchi, Riki, Sun, Hui, Kimonis, Virginia, and Huang, Taosheng
Subjects: Clinical Genetics, Developmental, Genome-Wide, Lenz Microphthalmia Syndrome, NAA10, Anophthalmos, Cell Proliferation, Cells, Cultured, Female, Fibroblasts, Humans, Male, Microphthalmos, Mutation, N-Terminal Acetyltransferase A, N-Terminal Acetyltransferase E, Pedigree, Phenotype, RNA Splice Sites, Signal Transduction, Tretinoin
Abstract: INTRODUCTION: Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities, genitourinary malformations, and anomalies of the digits, ears, and teeth. Intellectual disability and seizure disorders are seen in about 60% of affected males. To date, no gene has been identified for LMS in the microphthalmia syndrome 1 locus (MCOPS1). In this study, we aim to find the disease-causing gene for this condition. METHODS AND RESULTS: Using exome sequencing in a family with three affected brothers, we identified a mutation in the intron 7 splice donor site (c.471+2T→A) of the N-acetyltransferase NAA10 gene. NAA10 has been previously shown to be mutated in patients with Ogden syndrome, which is clinically distinct from LMS. Linkage studies for this family mapped the disease locus to Xq27-Xq28, which was consistent with the locus of NAA10. The mutation co-segregated with the phenotype and cDNA analysis showed aberrant transcripts. Patient fibroblasts lacked expression of full length NAA10 protein and displayed cell proliferation defects. Expression array studies showed significant dysregulation of genes associated with genetic forms of anophthalmia such as BMP4, STRA6, and downstream targets of BCOR and the canonical WNT pathway. In particular, STRA6 is a retinol binding protein receptor that mediates cellular uptake of retinol/vitamin A and plays a major role in regulating the retinoic acid signalling pathway. A retinol uptake assay showed that retinol uptake was decreased in patient cells. CONCLUSIONS: We conclude that the NAA10 mutation is the cause of LMS in this family, likely through the dysregulation of the retinoic acid signalling pathway.
Published: 2014

43. Frequency of Prader-Willi syndrome in births conceived via assisted reproductive technology.

Author: Gold, June-Anne, Ruth, Chelsey, Osann, Kathryn, Flodman, Pamela, McManus, Barbara, Lee, Hye-Seung, Donkervoort, Sandra, Khare, Manaswitha, Roof, Elizabeth, Dykens, Elizabeth, Miller, Jennifer, Driscoll, Daniel, Butler, Merlin, Heinemann, Janalee, Cassidy, Suzanne, and Kimonis, Virginia
Subjects: Chromosomes, Human, Pair 15, Genomic Imprinting, Health Surveys, Humans, Prader-Willi Syndrome, Reproductive Techniques, Assisted, Twins, Uniparental Disomy
Abstract: PURPOSE: Prader-Willi syndrome is an imprinting disorder characterized by typical facial, physical, and cognitive/behavioral features, resulting from lack of paternally expressed genes on chromosome 15q11.2-q13. Studies have suggested an increased risk of other imprinting disorders in children conceived by assisted reproductive techniques. This study was designed to determine the association between assisted reproductive technology and Prader-Willi syndrome. METHODS: Data on individuals with Prader-Willi syndrome were collected from three distinct sources and the proportion of assisted reproductive technology births analyzed. RESULTS: The proportions of assisted reproductive technology births in the Prader-Willi Syndrome Association (USA), Rare Diseases Clinical Research Network, and University of California, Irvine Medical Center populations were 1.0% (18/1,736), 1.0% (1/98), and 2.0% (1/50), respectively (overall 1.1%; population frequency for the United States was 1.0%). Of note, 2.4% (45/1,898) of participants were co-twins (11 born after assisted reproductive technology procedures); US twin frequency is 1.6% (P = 0.007). The proportion of individuals with maternal disomy 15/imprinting defects born after assisted reproductive technology was higher than that in the total sample, 55.6% (10/18) and 34.5% (431/1,250), respectively. CONCLUSION: This study found no association between assisted reproductive technology and Prader-Willi syndrome. There was an increased frequency of twinning. The number of individuals with maternal disomy 15/imprinting defect was nearly double in the assisted reproductive technology group as compared with the total Prader-Willi syndrome participants.
Published: 2014

44. Recurrent de-novo gain-of-function mutation in SPTLC2 confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis.

Author: Dohrn, Maike F., Beijer, Danique, Lone, Museer A., Bayraktar, Elif, Oflazer, Piraye, Orbach, Rotem, Donkervoort, Sandra, Foley, A. Reghan, Rose, Aubrey, Lyons, Michael, Louie, Raymond J., Gable, Kenneth, Dunn, Teresa, Sitong Chen, Danzi, Matt C., Synofzik, Matthis, Bönnemann, Carsten G., Başak, A. Nazlı, Hornemann, Thorsten, and Zuchner, Stephan
Subjects: MOTOR neuron diseases, AMYOTROPHIC lateral sclerosis, GAIN-of-function mutations, MOLECULAR biology
Abstract: This document summarizes a study on the genetic mutation SPTLC2 and its connection to juvenile amyotrophic lateral sclerosis (ALS). The researchers used genetic data to identify variants in SPTLC2 in ALS patients and discovered a recurring gain-of-function mutation that led to abnormal sphingolipid production and the development of juvenile ALS. The study suggests that dysregulated sphingolipid synthesis plays a role in the development of ALS and proposes potential therapeutic options for motor neuron diseases. Additionally, the document compares the lipid profiles of ALS patients with SPTLC2 mutations to those with mutations in the SPTLC1 gene, which have a different phenotype. [Extracted from the article]
Published: 2024
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45. Recurrent de novo SPTLC2 variant causes childhoodonset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis.

Author: Syeda, Safoora B., Lone, Museer A., Mohassel, Payam, Donkervoort, Sandra, Munot, Pinki, França Jr., Marcondes C., Galarza-Brito, Juan Eli, Eckenweiler, Matthias, Asamoah, Alexander, Gable, Kenneth, Majumdar, Anirban, Schumann, Anke, Gupta, Sita D., Lakhotia, Arpita, Shieh, Perry B., Foley, A. Reghan, Jackson, Kelly E., Chao, Katherine R., Winder, Thomas L., and Catapano, Francesco
Subjects: AMYOTROPHIC lateral sclerosis, SPASTICITY, FAMILIAL spastic paraplegia, LIQUID chromatography-mass spectrometry
Published: 2024
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46. Biallelic variants inHMGCS1are a novel cause of rare rigid spine syndrome

Author: Dofash, Lein N.H, primary, Miles, Lee B, additional, Saito, Yoshihiko, additional, Rivas, Eloy, additional, Calcinotto, Vanessa, additional, Oveissi, Sara, additional, Serrano, Rita J, additional, Templin, Rachel, additional, Ramm, Georg, additional, Rodger, Alison, additional, Haywood, Joel, additional, Ingley, Evan, additional, Clayton, Joshua S, additional, Taylor, Rhonda L, additional, Folland, Chiara L, additional, Groth, David, additional, Hock, Daniella H, additional, Stroud, David A, additional, Gorokhova, Svetlana, additional, Donkervoort, Sandra, additional, Bönnemann, Carsten G, additional, Sud, Malika, additional, VanNoy, Grace, additional, Mangilog, Brian E, additional, Pais, Lynn, additional, Madruga-Garrido, Marcos, additional, Scala, Marcello, additional, Fiorillo, Chiara, additional, Baratto, Serena, additional, Traverso, Monica, additional, Bruno, Claudio, additional, Zara, Federico, additional, Paradas, Carmen, additional, Ogata, Katsuhisa, additional, Nishino, Ichizo, additional, Laing, Nigel G, additional, Bryson-Richardson, Robert J, additional, Cabrera-Serrano, Macarena, additional, and Ravenscroft, Gianina, additional
Published: 2023
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47. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

Author: Lemire, Gabrielle, primary, Sanchis-Juan, Alba, additional, Russell, Kathryn, additional, Baxter, Samantha, additional, Chao, Katherine R., additional, Singer-Berk, Moriel, additional, Groopman, Emily, additional, Wong, Isaac, additional, England, Eleina, additional, Goodrich, Julia, additional, Pais, Lynn, additional, Austin-Tse, Christina, additional, DiTroia, Stephanie, additional, O’Heir, Emily, additional, Ganesh, Vijay S., additional, Wojcik, Monica H., additional, Evangelista, Emily, additional, Snow, Hana, additional, Osei-Owusu, Ikeoluwa, additional, Fu, Jack, additional, Singh, Mugdha, additional, Mostovoy, Yulia, additional, Huang, Steve, additional, Garimella, Kiran, additional, Kirkham, Samantha L., additional, Neil, Jennifer E., additional, Shao, Diane D., additional, Walsh, Christopher A., additional, Argili, Emanuela, additional, Le, Carolyn, additional, Sherr, Elliott H., additional, Gleeson, Joseph, additional, Shril, Shirlee, additional, Schneider, Ronen, additional, Hildebrandt, Friedhelm, additional, Sankaran, Vijay G., additional, Madden, Jill A., additional, Genetti, Casie A., additional, Beggs, Alan H., additional, Agrawal, Pankaj B., additional, Bujakowska, Kinga M., additional, Place, Emily, additional, Pierce, Eric A., additional, Donkervoort, Sandra, additional, Bönnemann, Carsten G., additional, Gallacher, Lyndon, additional, Stark, Zornitza, additional, Tan, Tiong, additional, White, Susan M., additional, Töpf, Ana, additional, Straub, Volker, additional, Fleming, Mark D., additional, Pollak, Martin R., additional, Õunap, Katrin, additional, Pajusalu, Sander, additional, Donald, Kirsten A., additional, Bruwer, Zandre, additional, Ravenscroft, Gianina, additional, Laing, Nigel G., additional, MacArthur, Daniel G., additional, Rehm, Heidi L., additional, Talkowski, Michael E., additional, Brand, Harrison, additional, and O’Donnell-Luria, Anne, additional
Published: 2023
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48. Persistent and new-onset symptoms after cholecystectomy in patients with uncomplicated symptomatic cholecystolithiasis: A post hoc analysis of 2 prospective clinical trials

Author: Thunnissen, Floris M., primary, Baars, Cléo, additional, Arts, Rianne, additional, Latenstein, Carmen S.S., additional, Drenth, Joost P.H., additional, van Laarhoven, Cornelis J.H.M., additional, Lantinga, Marten A., additional, de Reuver, Philip R., additional, Buyne, Otmar, additional, Donkervoort, Sandra C., additional, Heisterkamp, Joos, additional, ’t Hof, Klaas in, additional, Jansen, Jan, additional, Nieuwenhuijs, Vincent B., additional, Schaap, Henk M., additional, Steenvoorde, Pascal, additional, Boerma, Djamila, additional, Hazebroek, Eric J., additional, Hirsch, David, additional, Heikens, Joost T., additional, Konsten, Joop, additional, Polat, Fatih, additional, van der Bilt, Jarmila D.W., additional, Schreinemakers, Jennifer M.J., additional, Wiering, Bastiaan, additional, Stockmann, Hein B.A.C., additional, and Boermeester, Marja, additional
Published: 2023
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49. Recessive Pathogenic GMPPB Variants Cause a Childhood Onset Myasthenic Syndrome Responsive to Pyridostigmine

Author: Jewett, Gordon, primary, Beland, Benjamin, additional, Khayambashi, Shahin, additional, Silverstein, Sarah, additional, Donkervoort, Sandra, additional, Bönnemann, Carsten G., additional, Pfeffer, Gerald, additional, and Chhibber, Sameer, additional
Published: 2023
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50. Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

Author: Wojcik, Monica H, primary, Lemire, Gabrielle, additional, Zaki, Maha S, additional, Wissmann, Mariel, additional, Win, Wathone, additional, White, Sue, additional, Weisburd, Ben, additional, Waddell, Leigh B, additional, Verboon, Jeffrey M, additional, VanNoy, Grace E, additional, Topf, Ana, additional, Tan, Tiong Yang, additional, Straub, Volker, additional, Stenton, Sarah L, additional, Snow, Hana, additional, Singer-Berk, Moriel, additional, Silver, Josh, additional, Shril, Shirlee, additional, Seaby, Eleanor G, additional, Schneider, Ronen, additional, Sankaran, Vijay G, additional, Sanchis-Juan, Alba, additional, Russell, Kathryn A, additional, Reinson, Karit, additional, Ravenscroft, Gina, additional, Pierce, Eric A, additional, Place, Emily M, additional, Pajusalu, Sander, additional, Pais, Lynn, additional, Ounap, Katrin, additional, Osei-Owusu, Ikeoluwa, additional, Okur, Volkan, additional, Oja, Kaisa Teele, additional, OLeary, Melanie, additional, OHeir, Emily, additional, Morel, Chantal, additional, Marchant, Rhett G, additional, Mangilog, Brian E, additional, Madden, Jill A, additional, MacArthur, Daniel, additional, Lovgren, Alysia, additional, Lerner-Ellis, Jordan P, additional, Lin, Jasmine, additional, Laing, Nigel, additional, Hildebrandt, Friedhelm, additional, Groopman, Emily, additional, Goodrich, Julia, additional, Gleeson, Joseph G, additional, Ghaoui, Roula, additional, Genetti, Casie A, additional, Gazda, Hanna, additional, Ganesh, Vijay S, additional, Ganapathi, Mythily, additional, Gallacher, Lyndon, additional, Fu, Jack, additional, Evangelista, Emily, additional, England, Eleina, additional, Donkervoort, Sandra, additional, DiTroia, Stephanie, additional, Cooper, Sandra T, additional, Chung, Wendy K, additional, Christodoulou, John, additional, Chao, Katherine R, additional, Cato, Liam D, additional, Bujakowska, Kinga M, additional, Bryen, Samantha J, additional, Brand, Harrison, additional, Bonnemann, Carsten, additional, Beggs, Alan H, additional, Baxter, Samantha M, additional, Agrawal, Pankaj B, additional, Talkowski, Michael, additional, Austin-Tse, Christina, additional, Rehm, Heidi L, additional, and ODonnell-Luria, Anne, additional
Published: 2023
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