The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

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Date: September 8, 2025
Authors:
Ada Hamosh, Aditi Chawla, Ai Ling Koh, Akanchha Kesari, Alicia B. Byrne, Alison J Coffey, Alka Malhotra, Amanda Buchanan, Amanda N Girod, Amanda R Clause, Anjana Chandrasekhar, Anne O’Donnell-Luria, B. Monica Bowen, Becky Milewski, Bess Wayburn, Brendan T Burns, Brooke C Palus, Bruno Della Ripa Rodrigues Assis, Courtney Thaxton, Devon L. Thrush, Eleanor C Broeren, Elizabeth E Palmer, Emma H Owens, F. Lucy Raymond, Gabrielle Lemire, Hannah R McCurry, Himanshu Goel, Jennifer M. Huang, Jessica X. Chong, Jiin Ying Lim, Jonathan S. Berg, Julie C Ratliff, Julie P Taylor, Katie L Golden-Grant, Kezang C. Tshering, Krista Bluske, Madeline Y. Hughes, Marie B Balzotti, Marina T. DiStefano, Marwa A Elnagheeb, Matthew P Brown, Maya Chopra, Mayher J Patel, Nicole A Vasilevsky, Nicole J Burns, Pamela Ajuyah, Revathi Rajkumar, Rhonda N T Lassiter, Ryan F. Webb, Sabrina Toro, Samin A. Sajan, Samuel P Strom, Sarah A Schmidt, Sarah E. Leigh, Saumya S Jamuar, Shahida Moosa, Stephanie DiTroia, Stephen A Murray, Sylvia Kam, Thuong Ha, Vanessa N Gitau, Zinayida Schlachetzki, Zornitza Stark
Journal: Genetics In Medicine Open