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Stenton, Sarah L. ; Laricchia, Kristen ; Lake, Nicole J. ; Chaluvadi, Sushma ; Ganesh, Vijay ; DiTroia, Stephanie ; Osei-Owusu, Ikeoluwa ; Pais, Lynn ; O’Heir, Emily ; Austin-Tse, Christina ; O’Leary, Melanie ; Abu Shanap, Mayada ; Barrows, Chelsea ; Berger, Seth ; Bönnemann, Carsten G. ; Bujakowska, Kinga M. ; Campagna, Dean R. ; Compton, Alison G. ; Donkervoort, Sandra ; Fleming, Mark D. ; Gallacher, Lyndon ; Gleeson, Joseph G. ; Haliloglu, Goknur ; Pierce, Eric A. ; Place, Emily M. ; Sankaran, Vijay G. ; Shimamura, Akiko ; Stark, Zornitza ; Tan, Tiong Yang ; Thorburn, David R. ; White, Susan M. ; Zaki, Maha S. ; Vilain, Eric ; Lek, Monkol ; Rehm, Heidi L. ; O’Donnell-Luria, Anne

In Human Genetics and Genomics Advances 10 July 2025 6(3)

Weisburd, Ben ; Sharma, Rakshya ; Pata, Villem ; Reimand, Tiia ; Ganesh, Vijay S. ; Austin-Tse, Christina ; Osei-Owusu, Ikeoluwa ; O’Heir, Emily ; O’Leary, Melanie ; Pais, Lynn ; Stafki, Seth A. ; Daugherty, Audrey L. ; Folland, Chiara ; Peric, Stojan ; Fahmy, Nagia ; Udd, Bjarne ; Horáková, Magda ; Łusakowska, Anna ; Manoj, Rajanna ; Nalini, Atchayaram ; Karcagi, Veronika ; Polavarapu, Kiran ; Lochmüller, Hanns ; Horvath, Rita ; Bönnemann, Carsten G. ; Donkervoort, Sandra ; Haliloğlu, Göknur ; Herguner, Ozlem ; Kang, Peter B. ; Ravenscroft, Gianina ; Laing, Nigel ; Scott, Hamish S. ; Töpf, Ana ; Straub, Volker ; Pajusalu, Sander ; Õunap, Katrin ; Tiao, Grace ; Rehm, Heidi L. ; O’Donnell-Luria, Anne

In Genetics in Medicine April 2025 27(4)

Abouhala, Siwaar ; Albert, Jessica ; Almalvez, Miguel ; Alvarez, Raquel ; Amin, Mutaz ; Anderson, Peter ; Aradhya, Swaroop ; Ashley, Euan ; Assimes, Themistocles ; Auriga, Light ; Austin-Tse, Christina ; Bamshad, Mike ; Barseghyan, Hayk ; Baxter, Samantha ; Behera, Sairam ; Beheshti, Shaghayegh ; Bejerano, Gill ; Berger, Seth ; Bernstein, Jon ; Best, Sabrina ; Blankenmeister, Benjamin ; Blue, Elizabeth ; Boerwinkle, Eric ; Bonkowski, Emily ; Bonner, Devon ; Boone, Philip ; Bornhorst, Miriam ; Brand, Harrison ; Buckingham, Kati ; Calame, Daniel ; Carter, Jennefer ; Casadei, Silvia ; Chadwick, Lisa ; Chavez, Clarisa ; Chen, Ziwei ; Chinn, Ivan ; Chong, Jessica ; Coban-Akdemir, Zeynep ; Cohen, Andrea J. ; Conner, Sarah ; Conomos, Matthew ; Coveler, Karen ; Cui, Ya Allen ; Currin, Sara ; Daber, Robert ; Dardas, Zain ; Davis, Colleen ; Dawood, Moez ; de Dios, Ivan ; de Esch, Celine ; Delaney, Meghan ; Delot, Emmanuele ; DiTroia, Stephanie ; Doddapaneni, Harsha ; Du, Haowei ; Duan, Ruizhi ; Dugan-Perez, Shannon ; Duong, Nhat ; Duyzend, Michael ; Eichler, Evan ; Emami, Sara ; Fraser, Jamie ; Fusaro, Vincent ; Galey, Miranda ; Ganesh, Vijay ; Garcia, Brandon ; Garimella, Kiran ; Gibbs, Richard ; Gifford, Casey ; Ginsburg, Amy ; Goddard, Page ; Gogarten, Stephanie ; Gogate, Nikhita ; Gordon, William ; Gorzynski, John E. ; Greenleaf, William ; Grochowski, Christopher ; Groopman, Emily ; Sousa, Rodrigo Guarischi ; Gudmundsson, Sanna ; Gulati, Ashima ; Hall, Stacey ; Harvey, William ; Hawley, Megan ; Heavner, Ben ; Horike-Pyne, Martha ; Hu, Jianhong ; Huang, Yongqing ; Hwang, James ; Jarvik, Gail ; Jensen, Tanner ; Jhangiani, Shalini ; Jimenez-Morales, David ; Jin, Christopher ; Saad, Ahmed K. ; Kahn-Kirby, Amanda ; Kain, Jessica ; Kaur, Parneet ; Keehan, Laura ; Knoblach, Susan ; Ko, Arthur ; Kundaje, Anshul ; Kundu, Soumya ; Lancaster, Samuel M. ; Larsson, Katie ; Lee, Arthur ; Lemire, Gabrielle ; Lewis, Richard ; Li, Wei ; Li, Yidan ; Liu, Pengfei ; LoTempio, Jonathan ; Lupski, James (Jim) ; Ma, Jialan ; MacArthur, Daniel ; Mahmoud, Medhat ; Malani, Nirav ; Mangilog, Brian ; Marafi, Dana ; Marmolejos, Sofia ; Marten, Daniel ; Martinez, Eva ; Marvin, Colby ; Marwaha, Shruti ; Mastrorosa, Francesco Kumara ; Matalon, Dena ; May, Susanne ; McGee, Sean ; Meador, Lauren ; Mefford, Heather ; Mendez, Hector Rodrigo ; Miller, Alexander ; Miller, Danny E. ; Mitani, Tadahiro ; Montgomery, Stephen ; Moyses, Mariana ; Munderloh, Chloe ; Muzny, Donna ; Nelson, Sarah ; Nguyen, Thuy-mi P. ; Nguyen, Jonathan ; Nussbaum, Robert ; Nykamp, Keith ; O'Callaghan, William ; O'Heir, Emily ; O'Leary, Melanie ; Olsen, Jeren ; Osei-Owusu, Ikeoluwa ; O'Donnell-Luria, Anne ; Padhi, Evin ; Pais, Lynn ; Pan, Miao ; Panchal, Piyush ; Patterson, Karynne ; Payne, Sheryl ; Pehlivan, Davut ; Petrowski, Paul ; Pham, Alicia ; Pitsava, Georgia ; Podesta, Astaria`Sara ; Ponce, Sarah ; Porter, Elizabeth ; Posey, Jennifer ; Prosser, Jaime ; Quertermous, Thomas ; Rai, Archana ; Ramani, Arun ; Rehm, Heidi ; Reuter, Chloe ; Reuter, Jason ; Richardson, Matthew ; Rivera-Munoz, Andres ; Rubio, Oriane ; Sabo, Aniko ; Salani, Monica ; Samocha, Kaitlin ; Sanchis-Juan, Alba ; Savage, Sarah ; Scott, Evette ; Scott, Stuart ; Sedlazeck, Fritz ; Shah, Gulalai ; Shojaie, Ali ; Singh, Mugdha ; Smith, Kevin ; Smith, Josh ; Snow, Hana ; Snyder, Michael ; Socarras, Kayla ; Starita, Lea ; Stark, Brigitte ; Stenton, Sarah ; Stergachis, Andrew ; Stilp, Adrienne ; Sutton, V. Reid ; Tai, Jui-Cheng ; Talkowski, Michael (Mike) ; Tise, Christina ; Tong, Catherine (Cat) ; Tsao, Philip ; Ungar, Rachel ; VanNoy, Grace ; Vilain, Eric ; Voutos, Isabella ; Walker, Kim ; Wei, Chia-Lin ; Weisburd, Ben ; Weiss, Jeff ; Wellington, Chris ; Weng, Ziming ; Westheimer, Emily ; Wheeler, Marsha ; Wheeler, Matthew ; Wiel, Laurens ; Wilson, Michael ; Wojcik, Monica ; Wong, Quenna ; Xiao, Changrui ; Yadav, Rachita ; Yi, Qian ; Yuan, Bo ; Zhao, Jianhua ; Zhen, Jimmy ; Zhou, Harry ; Chong, Jessica X. ; Berger, Seth I. ; Smith, Erica ; Calame, Daniel G. ; Hawley, Megan H. ; Rivera-Munoz, E. Andres ; Bamshad, Michael J. ; Rehm, Heidi L.

In Genetics in Medicine October 2024 26(10)

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 ; O’Donnell-Luria, Anne

In The American Journal of Human Genetics 2 May 2024 111(5):863-876

Abouhala, Siwaar; Albert, Jessica; Almalvez, Miguel; Alvarez, Raquel; Amin, Mutaz; Anderson, Peter; Aradhya, Swaroop; Ashley, Euan; Assimes, Themistocles; Auriga, Light; Austin-Tse, Christina; Bamshad, Mike; Barseghyan, Hayk; Baxter, Samantha; Behera, Sairam; Beheshti, Shaghayegh; Bejerano, Gill; Berger, Seth; Bernstein, Jon; Best, Sabrina; Blankenmeister, Benjamin; Blue, Elizabeth; Boerwinkle, Eric; Bonkowski, Emily; Bonner, Devon; Boone, Philip; Bornhorst, Miriam; Bozkurt-Yozgatli, Tugce; Brand, Harrison; Buckingham, Kati; Calame, Daniel; Casadei, Silvia; Chadwick, Lisa; Chavez, Clarisa; Chen, Ziwei; Chinn, Ivan; Chong, Jessica; Coban-Akdemir, Zeynep; Cohen, Andrea J.; Conner, Sarah; Conomos, Matthew; Coveler, Karen; Cui, Ya Allen; Currin, Sara; Daber, Robert; Dardas, Zain; Davis, Colleen; Dawood, Moez; de Dios, Ivan; de Esch, Celine; Delaney, Meghan; Délot, Emmanuèle; DiTroia, Stephanie; Doddapaneni, Harsha; Du, Haowei; Duan, Ruizhi; Dugan-Perez, Shannon; Duong, Nhat; Duyzend, Michael; Eichler, Evan; Emami, Sara; Fatih, Jawid; Fraser, Jamie; Fusaro, Vincent; Galey, Miranda; Ganesh, Vijay; Garimella, Kiran; Gibbs, Richard; Gifford, Casey; Ginsburg, Amy; Goddard, Pagé; Gogarten, Stephanie; Gogate, Nikhita; Gordon, William; Gorzynski, John E.; Greenleaf, William; Grochowski, Christopher; Groopman, Emily; Guarischi Sousa, Rodrigo; Gudmundsson, Sanna; Gulati, Ashima; Guo, Daniel; Hale, Walker; Hall, Stacey; Harvey, William; Hawley, Megan; Heavner, Ben; Herman, Isabella; Horike-Pyne, Martha; Hu, Jianhong; Huang, Yongqing; Hwang, James; Jarvik, Gail; Jensen, Tanner; Jhangiani, Shalini; Jimenez-Morales, David; Jin, Christopher; Saad, Ahmed K.; Kahn-Kirby, Amanda; Kain, Jessica; Kaur, Parneet; Keehan, Laura; Knoblach, Susan; Ko, Arthur; Kohler, Jennefer; Kundaje, Anshul; Kundu, Soumya; Lancaster, Samuel M.; Larsson, Katie; Lemire, Gabrielle; Lewis, Richard; Li, Wei; Li, Yidan; Liu, Pengfei; LoTempio, Jonathan; Lupski, James; Ma, Jialan; MacArthur, Daniel; Mahmoud, Medhat; Malani, Nirav; Mangilog, Brian; Marafi, Dana; Marmolejos, Sofia; Marten, Daniel; Martinez, Eva; Marvin, Colby; Marwaha, Shruti; Kumara Mastrorosa, Francesco; Matalon, Dena; May, Susanne; McGee, Sean; Meador, Lauren; Mefford, Heather; Rodrigo Mendez, Hector; Miller, Alexander; Miller, Danny E.; Mitani, Tadahiro; Montgomery, Stephen; Moussa, Hala Mohamed; Moyses, Mariana; Munderloh, Chloe; Muzny, Donna; Nelson, Sarah; Neu, Matthew B.; Nguyen, Jonathan; Nguyen, Thuy-mi P.; Nussbaum, Robert; Nykamp, Keith; O'Callaghan, William; O'Heir, Emily; O'Leary, Melanie; Olsen, Jeren; Osei-Owusu, Ikeoluwa; O'Donnell-Luria, Anne; Padhi, Evin; Pais, Lynn; Pan, Miao; Panchal, Piyush; Patterson, Karynne; Payne, Sheryl; Pehlivan, Davut; Petrowski, Paul; Pham, Alicia; Pitsava, Georgia; Podesta, Astaria; Ponce, Sarah; Posey, Jennifer; Prosser, Jaime; Quertermous, Thomas; Rai, Archana; Ramani, Arun; Rehm, Heidi; Reuter, Chloe; Reuter, Jason; Richardson, Matthew; Rivera-Munoz, Andres; Rubio, Oriane; Sabo, Aniko; Salani, Monica; Samocha, Kaitlin; Sanchis-Juan, Alba; Savage, Sarah; Scott, Stuart; Scott, Evette; Sedlazeck, Fritz; Shah, Gulalai; Shojaie, Ali; Singh, Mugdha; Smith, Josh; Smith, Kevin; Snow, Hana; Snyder, Michael; Socarras, Kayla; Starita, Lea; Stark, Brigitte; Stenton, Sarah; Stergachis, Andrew; Stilp, Adrienne; Sundaram, Laksshman; Sutton, V. Reid; Tai, Jui-Cheng; Talkowski, Michael; Tise, Christina; Tong, Catherine; Tsao, Philip; Ungar, Rachel; VanNoy, Grace; Vilain, Eric; Voutos, Isabella; Walker, Kim; Weisburd, Ben; Weiss, Jeff; Wellington, Chris; Weng, Ziming; Westheimer, Emily; Wheeler, Marsha; Wheeler, Matthew; Wiel, Laurens; Wilson, Michael; Wojcik, Monica; Wong, Quenna; Wong, Issac; Xiao, Changrui; Yadav, Rachita; Yi, Qian; Yuan, Bo; Zhao, Jianhua; Zhen, Jimmy; Zhou, Harry; Wojcik, Monica H. ; Reuter, Chloe M. ; Duyzend, Michael H. ; Boone, Philip M. ; Groopman, Emily E. ; Délot, Emmanuèle C. ; Jain, Deepti ; Starita, Lea M. ; Montgomery, Stephen B. ; Bamshad, Michael J. ; Chong, Jessica X. ; Wheeler, Matthew T. ; Berger, Seth I. ; Sedlazeck, Fritz J.

In The American Journal of Human Genetics 3 August 2023 110(8):1229-1248

Gear, Russell; Kalitsis, Paul; Glass, Melissa; Isidor, Bertrand; Vincent‐Delorme, Catherine; Petit, Florence; Verhagen, Judith M. A.; Jorge, Alexander; Krepischi, Ana Cristina Victorino; Osei‐Owusu, Ikeoluwa; Martinez, Eva; O'Donnell‐Luria, Anne; de Leeuw, Nicole; Ruggiero, Sarah; Helbig, Ingo; David, Francis; Brown, Natasha J.

American Journal of Medical Genetics. Part A; Nov2025, Vol. 197 Issue 11, p1-11, 11p

Yeoh, Laura ; O'Leary, Melanie ; Austin-Tse, Christina ; Osei-Owusu, Ikeoluwa ; Sanchis-Juan, Alba ; Wojcik, Monica ; O'Donnell-Luria, Anne ; Rehm, Heidi ; Sacharow, Stephanie

In Genetics in Medicine Open 2025 3 Supplement 2

Wojcik, Monica ; Genetti, Casie ; Sud, Malika ; Madden, Jill ; Garvey, Kathleen ; Osei-Owusu, Ikeoluwa ; Groussis, Nicole ; Al-Husayni, Sundos ; Agrawal, Pankaj ; Goldstein, Richard ; Rehm, Heidi ; O'Donnell-Luria, Anne ; Beggs, Alan ; Holm, Ingrid

In Genetics in Medicine Open 2025 3 Supplement 2

Austin-Tse, Christina ; DiTroia, Stephanie ; O'Leary, Melanie ; VanNoy, Grace ; Mangilog, Brian ; Shah, Gulalai ; Martinez, Eva ; Serrano, Jillian ; Pais, Lynn ; O'Heir, Emily ; Osei-Owusu, Ikeoluwa ; Lemire, Gabrielle ; Ganesh, Vijay ; Stenton, Sarah ; Amin, Mutaz ; Socarras, Kayla ; Singh, Mugdha ; Hall, Stacey ; Larsson, Katie ; Singer-Berk, Moriel ; Marten, Daniel ; Wilson, Michael ; Snow, Hana ; Blankenmeister, Benjamin ; Ma, Jialan ; Weisburd, Ben ; Sanchis-Juan, Alba ; Brand, Harrison ; Groopman, Emily ; Lovgren, Alysia ; Williamson, Clara ; Hollyer, Marissa ; England, Eleina ; Seaby, Eleanor ; Chao, Katherine ; Goodrich, Julia ; Baxter, Samantha ; MacArthur, Daniel ; Talkowski, Michael ; Wojcik, Monica ; O'Donnell-Luria, Anne ; Rehm, Heidi

In Genetics in Medicine Open 2024 2 Supplement 1

Brooks, Daniel; Burke, Elizabeth; Lee, Sukyeong; Eble, Tanya N.; O'Leary, Melanie; Osei-Owusu, Ikeoluwa; Rehm, Heidi L.

Human Genetics. March 2024, Vol. 143 Issue 3, p279, 13 p.

Stenton, Sarah L.; O'Leary, Melanie C.; Lemire, Gabrielle; VanNoy, Grace E.; DiTroia, Stephanie; Ganesh, Vijay S.; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S.; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W.; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo

Human Genomics; 4/29/2024, Vol. 18 Issue 1, p1-25, 25p

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. 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Burdenko, Voronezh, 394036, Russian Federation.; Atiakshin D; RUDN University, Moscow, 117198, Russian Federation.; van Beek R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, The Netherlands.; Kamsteeg EJ; Department of Human Genetics, Radboudumc, Nijmegen, 6525, The Netherlands.; Medici E; Department of Neurology, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Donker Kaat L; Department of Clinical Genetics, Erasmus University Medical Center Rotterdam, 3015, The Netherlands.; Nemoto J; Department of Neurology, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi, 755-8505, Japan.; Komaki H; Translational Medical Center, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Okabe T; Okabe Children's Clinic, Toyama, 939-8211, Japan.; Kimoto Y; Division of Pediatrics, Faculty of Medicine, University of Miyazaki, Miyazaki, 889-1692, Japan.; Tokito T; Tokito Clinic Rheumatology and Orthopedic Surgery, Shimonoseki, Yamaguchi, 752-0976, Japan.; Nakanowatari M; Department of Neurology, Ushioda General Hospital, Yokohama, Kanagawa, 230-0001, Japan.; Oya Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Estrella EA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Kunkel LM; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School, Minneapolis, MN 55455, USA.; Osei-Owusu I; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Pais L; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Austin-Tse C; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; O'Donnell-Luria A; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Mangilog B; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Genetti CA; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Valivullah ZM; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, 33000, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, 33076, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; PhyMedExp, Univ Montpellier, CNRS, INSERM, Montpellier, 34295, France.; Milic Rasic V; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kovacevic G; Mother and Child Health Care Institute, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Faculty of Medicine, University of Belgrade, Belgrade, 11000, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Gontijo Camelo C; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo, 05403-000, Brazil.; Habib C; Clinical Genetics, Austin Health, Melbourne, VIC, 3084, Australia.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, 3168, Australia.; Beggs AH; Division of Genetics & Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Poulsen NS; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, 2100, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Savarese M; Folkhälsan Research Center, Helsinki, 00290, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE4 5PL, UK.; Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, 6525, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.; Udd B; Folkhälsan Research Center, Helsinki, 00290, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, 187-8551, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, 6009, Australia.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Stenton, Sarah L.; Laricchia, Kristen; Lake, Nicole J.; Chaluvadi, Sushma; Ganesh, Vijay; DiTroia, Stephanie; Osei-Owusu, Ikeoluwa; Pais, Lynn; O’Heir, Emily; Austin-Tse, Christina; O’Leary, Melanie; Abu Shanap, Mayada; Barrows, Chelsea; Berger, Seth; Bönnemann, Carsten G.; Bujakowska, Kinga M.; Campagna, Dean R.; Compton, Alison G.; Donkervoort, Sandra; Fleming, Mark D.; Gallacher, Lyndon; Gleeson, Joseph G.; Haliloglu, Goknur; Pierce, Eric A.; Place, Emily M.; Sankaran, Vijay G.; Shimamura, Akiko; Stark, Zornitza; Tan, Tiong Yang; Thorburn, David R.; White, Susan M.; Vilain, Eric; Lek, Monkol; Rehm, Heidi L.; O’Donnell-Luria, Anne

medRxiv

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

NEW ENGLAND JOURNAL OF MEDICINE; JUN 6 2024, 390 21, p1985-p1997, 13p.

Pais, Lynn S.; Snow, Hana; Weisburd, Ben; Zhang, Shifa; Baxter, Samantha M.; DiTroia, Stephanie; O'Heir, Emily; England, Eleina; Chao, Katherine R.; Lemire, Gabrielle; Osei‐Owusu, Ikeoluwa; VanNoy, Grace E.; Wilson, Michael; Nguyen, Kevin; Arachchi, Harindra; Phu, William; Solomonson, Matthew; Mano, Stacy; O'Leary, Melanie; Lovgren, Alysia

Human Mutation; Jun2022, Vol. 43 Issue 6, p698-707, 10p

Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter; Undiagnosed Dis Network

HUMAN MOLECULAR GENETICS; OCT 17 2023, 32 21, p3063-p3077, 15p.

Johari M; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.; Oud MM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Parmar JM; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Kurbatov S; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.; Ampleeva M; Independent Clinical Bioinformatics Laboratory, Moscow, Russia.; Zakharova EY; Research Centre for Medical Genetics, Moscow, Russia.; Chekmareva IA; Federal State Budgetary Institution 'National Medical Research Center of Surgery named after A. Vishnevsky', Ministry of Health of the Russian Federation, Moscow, Russia.; Shirokova KS; Research Institute of Experimental Biology and Medicine, Voronezh State Medical University named after N.N. Burdenko, Voronezh, Russian Federation.; Atiakshin D; RUDN University, Moscow, Russian Federation.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525 GA, the Netherlands.; Kamsteeg EJ; Dept Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Medici E; Dept Neurology, Erasmus University Medical Center Rotterdam, The Netherlands.; Kaat LD; Dept Clinical Genetics, Erasmus University Medical Center Rotterdam, The Netherlands.; Bruels CC; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Estrella EA; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.; Littel HR; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Kunkel LM; Division of Genetics & Genomics, Boston Children's Hospital and Harvard Medical School.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, University of Minnesota Medical School.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Mangilog B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; D'Amico A; Neuromuscular and neurodegenerative disorders, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Ciolfi A; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, 00146, Rome, Italy.; Perrin A; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Van Goethem C; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Sole G; Neurology and Neuromuscular Diseases Department, Neuromuscular Reference Centre AOC, FILNEMUS, EURO-NMD, Pellegrin Hospital, Bordeaux University Hospitals, Bordeaux, France.; Martin-Négrier ML; Pathology Department, University Hospital of Bordeaux, France. Univ. Bordeaux, CNRS UMR5293, Bordeaux, France.; Cossée M; Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.; Genetti CA; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.; Valivullah ZM; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA.; Milic V; Clinic for Neurology and Psychiatry for Children and Youth,Belgrade,Serbia.; Kovacevic G; Mother and Child Health Care Institute,Belgrade,Serbia.; Kosac A; Clinic for Neurology and Psychiatry for Children and Youth, Belgrade, Serbia.; Moreno CAM; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Camelo CG; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Zanoteli E; Department of Neurology, Faculdade de Medicina da Universidade de São Paulo (FMUSP), São Paulo. Brazil.; Fahey MC; Department of Paediatrics Monash University, Melbourne, VIC, Australia.; Beggs AH; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research,Boston Children's Hospital, Harvard Medical School, Boston MA 02115, USA.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Straub V; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Savarese M; Folkhälsan Research Center, Helsinki, Finland.; Tasca G; John Walton Muscular Dystrophy Research Centre, NIHR Newcastle Biomedical Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.; Voermans N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands.; Laing NG; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.; Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Tiivoja, Elis; Teek, Rita; Pajusalu, Sander; Oja, Kaisa Teele; Wojcik, Monica H.; Osei-Owusu, Ikeoluwa; Ounap, Katrin

EUROPEAN JOURNAL OF HUMAN GENETICS; NOV 2025, 33 p677-p677, 1p. Supplement: 1

Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Sharma R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; UC Santa Cruz Genomics Institute, UCSC, Santa Cruz, CA, USA.; Pata V; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Anesthesiology and Intensive Care Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham & Women's Hospital,Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; O'Heir E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Stafki SA; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.; Daugherty AL; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.; Folland C; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Perić S; University of Belgrade, Faculty of Medicine, Belgrade, Serbia.; University Clinical Centre of Serbia, Neurology Clinic, Belgrade, Serbia.; Fahmy N; Neuromuscular Center, Ain Shams University, Cairo, Egypt.; Udd B; Tampere Neuromuscular Center and Folkhalsan Research Center, Helsinki, Finland.; Horakova M; Department of Neurology, Neuromuscular Center ERN, University Hospital Brno, Brno, Czech Republic.; Faculty of Medicine, Masaryk University, Brno, Czech Republic.; Łusakowska A; Department of Neurology, Medical University of Warsaw, Warsaw, Poland.; Manoj R; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.; Nalini A; National Institute of Mental Health and Neuro Sciences, Bengaluru, India.; Karcagi V; Istenhegyi Genetic Diagnostic Centre, Molecular Genetic Laboratory, Budapest, Hungary.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Haliloğlu G; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA.; Division of Pediatric Neurology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.; Herguner O; Çukurova University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology, Adana, Turkey.; Kang PB; Greg Marzolf Jr. Muscular Dystrophy Center, Department of Neurology, and Institute for Translational Neuroscience, University of Minnesota, Minneapolis, MN, USA.; Ravenscroft G; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.; Laing N; Centre of Medical Research, The University of Western Australia, Perth, Western Australia, Australia.; Harry Perkins Institute for Medical Research, Perth, Western Australia, Australia.; Scott HS; Centre for Cancer Biology, An SA Pathology & UniSA Alliance, Adelaide, SA, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Pajusalu S; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Lemire G; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; These authors contributed equally.; Sanchis-Juan A; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; These authors contributed equally.; Russell K; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Baxter S; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Chao KR; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Singer-Berk M; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Groopman E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; England E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Goodrich J; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Pais L; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Austin-Tse C; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; DiTroia S; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; O'Heir E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Ganesh VS; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Wojcik MH; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Evangelista E; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Snow H; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Osei-Owusu I; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Fu J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Singh M; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Mostovoy Y; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Huang S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Garimella K; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kirkham SL; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Neil JE; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Shao DD; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Walsh CA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, USA.; Argili E; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Le C; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Sherr EH; Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.; Gleeson J; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Shril S; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Schneider R; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Hildebrandt F; Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Sankaran VG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA.; Madden JA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Beggs AH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Agrawal PB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Bujakowska KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.; Place E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.; Pierce EA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Gallacher L; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Tan T; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; White SM; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia.; Töpf A; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Straub V; John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Fleming MD; Harvard Medical School, Boston, MA, USA.; Department of Pathology, Boston Children's Hospital, Boston, MA, USA.; Pollak MR; Harvard Medical School, Boston, MA, USA.; Division of Nephrology, Beth Israel Deaconess Medical Center, Boston, MA, USA.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Pajusalu S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; University of Cape Town, Cape Town, South Africa.; Bruwer Z; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Cape Town, South Africa.; University of Cape Town, Cape Town, South Africa.; Ravenscroft G; University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Australia.; Laing NG; University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Australia.; MacArthur DG; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Rehm HL; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Talkowski ME; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Brand H; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Senior authors.; O'Donnell-Luria A; Broad Institute Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Senior authors.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE