ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
Genet Med
.
2025 Oct;27(10):101500.
doi: 10.1016/j.gim.2025.101500.
Epub 2025 Sep 7.
Authors
Kezang C Tshering
,
Marina T DiStefano
,
Andrea M Oza
,
Pamela Ajuyah
,
Ryan Webb
,
Enyonam Edoh
,
Ellie Broeren
,
Julie Ratliff
,
Vanessa Gitau
,
Kelley Paris
,
Amal Aburyyan
,
John Alexander
,
Victoria Albano
,
Donglin Bai
,
Kevin T A Booth
,
Paula I Buonfiglio
,
Cherine Charfeddine
,
Viviana Dalamón
,
Ignacio Del Castillo
,
Miguel Angel Moreno-Pelayo
,
Hatice Duzkale
,
Ben Dorshorst
,
Rabia Faridi
,
Margaret Kenna
,
Morag A Lewis
,
Minjie Luo
,
Yu Lu
,
Rahma Mkaouar
,
Tatsuo Matsunaga
,
Kiyomitsu Nara
,
Arti Pandya
,
Shelby Redfield
,
Isabelle Roux
,
Lisa A Schimmenti
,
Isabelle Schrauwen
,
Sherin Shaaban
,
Jun Shen
,
Barbara Vona
,
Richard J Smith
,
Heidi L Rehm
,
Hela Azaiez
,
Ahmad N Abou Tayoun
,
Sami S Amr
;
ClinGen Hearing Loss Clinical Domain Working Group
PMID:
40923570
DOI:
10.1016/j.gim.2025.101500
No abstract available
Publication types
Published Erratum