The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships
Authors: Eleanor C Broeren; Vanessa N Gitau; Alicia B Byrne; Pamela Ajuyah; Marie B Balzotti; Jonathan S Berg; Krista Bluske; B Monica Bowen; Matthew P Brown; Amanda Buchanan; Brendan T Burns; Nicole J Burns; Anjana Chandrasekhar; Aditi Chawla; Jessica X Chong; Maya Chopra; Amanda R Clause; Marina T DiStefano; Stephanie DiTroia; Marwa A Elnagheeb; Amanda N Girod; Himanshu Goel; Katie L Golden-Grant; Thuong Ha; Ada Hamosh; Jennifer M Huang; Madeline Y Hughes; Saumya S Jamuar; Sylvia Kam; Akanchha Kesari; Ai Ling Koh; Rhonda N T Lassiter; Sarah E Leigh; Gabrielle Lemire; Jiin Ying Lim; Alka Malhotra; Hannah R McCurry; Becky Milewski; Shahida Moosa; Stephen A Murray; Emma H Owens; Elizabeth E Palmer; Brooke C Palus; Mayher J Patel; Revathi Rajkumar; Julie C Ratliff; F Lucy Raymond; Bruno Della Ripa Rodrigues Assis; Samin A Sajan; Zinayida Schlachetzki; Sarah A Schmidt; Zornitza Stark; Samuel P Strom; Julie P Taylor; Courtney Thaxton; Devon L Thrush; Sabrina Toro; Kezang C Tshering; Nicole A Vasilevsky; Bess Wayburn; Ryan F Webb; Anne O'Donnell-Luria; Alison J Coffey
Collaborators: Adelaide Medical School, University of Adelaide; Australian Genomics; Boston Children's Hospital; Broad Institute of MIT and Harvard; Brotman Baty Institute for Precision Medicine; Children's Hospital of Eastern Ontario Research Institute; Critical Path Institute; Fabric Genomics; Genomics England; Illumina Inc; Johns Hopkins University School of Medicine; Murdoch Childrens Research Institute; Myriad Women's Health; Natera; PreventionGenetics; Rady Children's Institute for Genomic Medicine; São Paulo University; SingHealth Duke-NUS Institute of Precision Medicine; Stanford; Stellenbosch University; The Jackson Laboratory; Tufts Medical Center; Tygerberg Hospital, Cape Town; University of Cambridge; University of Melbourne; University of New South Wales; University of North Carolina at Chapel Hill; University of Southern California; University of Washington; University of Wisconsin - Madison