부산대학교 도서관

Feng, Ning ; Goedert, Thomas ; Svrzikapa, Nenad ; Yan, Dongnan ; Friedrichsen, Hans J. ; Hanson, Britt ; Ljungdahl, Alicia ; Dafinca, Ruxandra ; Talbot, Kevin ; Sanders, Stephan J. ; Gupta, Dhanu ; Wood, Mathew J.A. ; Roberts, Thomas C.

In Molecular Therapy 4 March 2026 34(3):1652-1671

Žakelj, Nina ; Gosar, David ; Miroševič, Špela ; Sanders, Stephan J. ; Ljungdahl, Alicia ; Kohani, Sayeh ; Huang, Shouhe ; Leong, Lok I ; An, Ying ; Teo, Miou-Jing ; Moultrie, Fiona ; Jerala, Roman ; Lainšček, Duško ; Forstnerič, Vida ; Sušjan, Petra ; Lisowski, Leszek ; Perez-Iturralde, Andrea ; Mrak, Jasna Oražem ; Chan, Ho Yin Edwin ; Osredkar, Damjan

In Human Genetics and Genomics Advances 9 October 2025 6(4)

Aleksic, Branko; Artomov, Mykyta; Barbosa, Mafalda; Benetti, Elisa; Betancur, Catalina; Biscaldi-Schafer, Monica; Børglum, Anders D.; Brand, Harrison; Brusco, Alfredo; Buxbaum, Joseph D.; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Carracedo, Angel; Chan, Marcus C.Y.; Chiocchetti, Andreas G.; Chung, Brian H.Y.; Collins, Brett; Collins, Ryan L.; Cook, Edwin H.; Coon, Hilary; Costa, Claudia I.S.; Cuccaro, Michael L.; Cutler, David J.; Daly, Mark J.; De Rubeis, Silvia; Devlin, Bernie; Doan, Ryan N.; Domenici, Enrico; Dong, Shan; Fallerini, Chiara; Fernández-Prieto, Montserrat; Ferrero, Giovanni Battista; Freitag, Christine M.; Fu, Jack M.; Gargus, J. Jay; Gerges, Sherif; Giorgio, Elisa; Girardi, Ana Cristina; Guter, Stephen; Hansen-Kiss, Emily; Herman, Gail E.; Hertz-Picciotto, Irva; Hougaard, David M.; Hultman, Christina M.; Jacob, Suma; Kaartinen, Miia; Klei, Lambertus; Kolevzon, Alexander; Kushima, Itaru; Lee, So Lun; Lehtimäki, Terho; Liang, Lindsay; Lintas, Carla; Ljungdahl, Alicia; Lo Rizzo, Caterina; Ludena, Yunin; Maciel, Patricia; Mahjani, Behrang; Maltman, Nell; Manara, Marianna; Manoach, Dara S.; Meiri, Gal; Menashe, Idan; Miller, Judith; Minshew, Nancy; Mosconi, Matthew; Nguyen, Rachel; Ozaki, Norio; Palotie, Aarno; Parellada, Mara; Passos-Bueno, Maria Rita; Pavinato, Lisa; Peng, Minshi; Pericak-Vance, Margaret; Persico, Antonio M.; Pessah, Isaac N.; Puura, Kaija; Reichenberg, Abraham; Renieri, Alessandra; Roeder, Kathryn; Sanders, Stephan J.; Sandin, Sven; Satterstrom, F. Kyle; Scherer, Stephen W.; Schlitt, Sabine; Schmidt, Rebecca J.; Schmitt, Lauren; Schneider-Momm, Katja; Siper, Paige M.; Sloofman, Laura; Smith, Moyra; Stevens, Christine R.; Suren, Pål; Sutcliffe, James S.; Sweeney, John A.; Talkowski, Michael E.; Tassone, Flora; Teufel, Karoline; Trabetti, Elisabetta; Trajkova, Slavica; Trelles, Maria del Pilar; Wamsley, Brie; Wang, Jaqueline Y.T.; Weiss, Lauren A.; Yu, Mullin H.C.; Yuen, Ryan; Adhya, Deep; Allison, Carrie; Ayeung, Bonnie; Bamford, Rosie; Baron-Cohen, Simon; Bethlehem, Richard; Biron-Shental, Tal; Burton, Graham; Cowell, Wendy; Davies, Jonathan; Floris, Dori; Franklin, Alice; Gabis, Lidia; Geschwind, Daniel; Greenberg, David M.; Gu, Yuanjun; Havdahl, Alexandra; Heazell, Alexander; Holt, Rosemary; Hurles, Matthew; Khan, Yumnah; Lai, Meng-Chuan; Lancaster, Madeline; Lombardo, Michael; Martin, Hilary; Martinez, Jose Gonzalez; Mill, Jonathan; Koko, Mahmoud; Niakan, Kathy; Pavlinek, Adam; Polit, Lucia Dutan; Radecki, Marcin; Rowitch, David; Sichlinger, Laura; Srivastava, Deepak; Tsompanidis, Alexandros; Uzefovsky, Florina; Warrier, Varun; Weir, Elizabeth; Zhang, Xinhe

In The American Journal of Human Genetics 6 March 2025 112(3):599-614

Silva, Dina Buitrago ; Trinidad, Marena ; Ljungdahl, Alicia ; Revalde, Jezrael L. ; Berguig, Geoffrey Y. ; Wallace, William ; Patrick, Cory S. ; Bomba, Lorenzo ; Arkin, Michelle ; Dong, Shan ; Estrada, Karol ; Hutchinson, Keino ; LeBowitz, Jonathan H. ; Schlessinger, Avner ; Johannesen, Katrine M. ; Møller, Rikke S. ; Giacomini, Kathleen M. ; Froelich, Steven ; Sanders, Stephan J. ; Wuster, Arthur

In The American Journal of Human Genetics 6 June 2024 111(6):1222-1238

Ljungdahl, Alicia ; Sanders, Stephan J.

In Trends in Molecular Medicine November 2023 29(11):878-879

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.

Nature; Aug2024, Vol. 632 Issue 8026, p832-840, 9p

Jack M. Fu; F. Kyle Satterstrom; Minshi Peng; Harrison Brand; Ryan L. Collins; Shan Dong; Brie Wamsley; Lambertus Klei; Lily Wang; Stephanie P. Hao; Christine R. Stevens; Caroline Cusick; Mehrtash Babadi; Eric Banks; Brett Collins; Sheila Dodge; Stacey B. Gabriel; Laura Gauthier; Samuel K. Lee; Lindsay Liang; Alicia Ljungdahl; Behrang Mahjani; Laura Sloofman; Andrey N. Smirnov; Mafalda Barbosa; Catalina Betancur; Alfredo Brusco; Brian H. Y. Chung; Edwin H. Cook; Michael L. Cuccaro; Enrico Domenici; Giovanni Battista Ferrero; J. Jay Gargus; Gail E. Herman; Irva Hertz-Picciotto; Patricia Maciel; Dara S. Manoach; Maria Rita Passos-Bueno; Antonio M. Persico; Alessandra Renieri; James S. Sutcliffe; Flora Tassone; Elisabetta Trabetti; Gabriele Campos; Simona Cardaropoli; Diana Carli; Marcus C. Y. Chan; Chiara Fallerini; Elisa Giorgio; Ana Cristina Girardi; Emily Hansen-Kiss; So Lun Lee; Carla Lintas; Yunin Ludena; Rachel Nguyen; Lisa Pavinato; Margaret Pericak-Vance; Isaac N. Pessah; Rebecca J. Schmidt; Moyra Smith; Claudia I. S. Costa; Slavica Trajkova; Jaqueline Y. T. Wang; Mullin H. C. Yu; Branko Aleksic; Mykyta Artomov; Elisa Benetti; Monica Biscaldi-Schafer; Anders D. Børglum; Angel Carracedo; Andreas G. Chiocchetti; Hilary Coon; Ryan N. Doan; Montserrat Fernández-Prieto; Christine M. Freitag; Sherif Gerges; Stephen Guter; David M. Hougaard; Christina M. Hultman; Suma Jacob; Miia Kaartinen; Alexander Kolevzon; Itaru Kushima; Terho Lehtimäki; Caterina Lo Rizzo; Nell Maltman; Marianna Manara; Gal Meiri; Idan Menashe; Judith Miller; Nancy Minshew; Matthew Mosconi; Norio Ozaki; Aarno Palotie; Mara Parellada; Kaija Puura; Abraham Reichenberg; Sven Sandin; Stephen W. Scherer; Sabine Schlitt; Lauren Schmitt; Katja Schneider-Momm; Paige M. Siper; Pål Suren; John A. Sweeney; Karoline Teufel; Maria del Pilar Trelles; Lauren A. Weiss; Ryan Yuen; David J. Cutler; Silvia De Rubeis; Joseph D. Buxbaum; Mark J. Daly; Bernie Devlin; Kathryn Roeder; Stephan J. Sanders; Michael E. Talkowski

Nature Genetics, vol 54, iss 9

Ljungdahl A; School of Medicine, Baylor College of Medicine, Houston, TX, USA.; Dhindsa RS; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: ryan.dhindsa@bcm.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 101656080 Publication Model: Print Cited Medium: Internet ISSN: 2405-4720 (Electronic) Linking ISSN: 24054712 NLM ISO Abbreviation: Cell Syst Subsets: MEDLINE

Ljungdahl, Alicia; Kohani, Sayeh; Page, Nicholas; Wells, Eloise; Wigdor, Emilie; Dong, Shan; Sanders, Stephan

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p1665-p1666, 2p. Supplement: 2

Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Stenton SL; Broad Center for Mendelian Genomics, 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.; Walker S; Genomics England, London, UK.; Ljungdahl A; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; Ganesh VS; Broad Center for Mendelian Genomics, 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.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Ma J; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Martin-Geary AC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Lemire G; Broad Center for Mendelian Genomics, 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.; D'Souza EN; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dong S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Ellingford JM; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.; Adams DR; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Allan K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; Baldwin EE; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Berger SI; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Chapman K; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; D'Souza P; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Délot EC; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; Elias ER; Department of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.; University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA.; Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Ezell K; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Fraser JL; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Grant CL; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Fevre AL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Liebelt JE; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Repromed, Dulwich, SA, Australia.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Macnamara EF; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Maurer TM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Mendez HR; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Montgomery SB; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Neumann S; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Phillips J; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Pitsava G; Institute for Clinical and Translational Research, University of California, Irvine, CA, USA.; Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Rehm HL; Broad Center for Mendelian Genomics, 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.; Reuter CM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Rius R; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sachdev R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; UK and Chalfont Centre for Epilepsy, Bucks, UK.; Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Temple SE; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; School of Women's and Childrens's Health, University of New South Wales, Sydney, NSW, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Tifft CJ; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Uebergang E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; VanNoy GE; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.; Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Wheeler MT; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wojcik M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Wolfe LA; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Wolfenson Z; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Xiao C; Department of Neurology, University of California, Irvine, CA, USA.; Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; Rubenstein JL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Markenscoff-Papadimitriou E; Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Fica SM; Department of Biochemistry, University of Oxford, Oxford, UK.; Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton National Health Service (NHS) Foundation Trust, Southampton, UK.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Howson JM; Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK.; Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, 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.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

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

Ljungdahl A; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Kohani S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Page NF; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Wells ES; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Wigdor EM; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Dong S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, OX3 7TY, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; New York Genome Center, New York, NY 10013, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Stenton, Sarah; Walker, Susan; Ljungdahl, Alicia; Lord, Jenny; Ganesh, Vijay S.; Ma, Jialan; Martin-Geary, Alexandra; Lemire, Gabrielle; D'Souza, Elston N.; Dong, Shan; Ellingford, Jamie; Rubenstein, John; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian; Baralle, Diana; Depienne, Christel; MacArthur, Daniel; Howson, Joanna; Sanders, Stephan; O'Donnell-Luria, Anne; Whiffin, Nicola

EUROPEAN JOURNAL OF HUMAN GENETICS; DEC 2024, 32 p854-p854, 1p. Supplement: 2