Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
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Published:2024-05
Issue:5
Volume:111
Page:863-876
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ISSN:0002-9297
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Container-title:The American Journal of Human Genetics
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language:en
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Short-container-title:The American Journal of Human Genetics
Author:
Lemire GabrielleORCID, 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
Funder
European Research Council Ultragenyx LGMD2I Research Fund Murdoch Children's Research Institute Kurt+Peter Foundation LGMD2D Foundation Quebec Health Research Fund Sanofi US Massachusetts General Hospital National Institute of Child Health and Human Development National Institute of Mental Health National Human Genome Research Institute National Institute of Diabetes and Digestive and Kidney Diseases National Institute of Dental and Craniofacial Research Autism Speaks Foundation Fighting Blindness Inc National Health and Medical Research Council TÜBİTAK Estonian Research and Development Council Muscular Dystrophy UK
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