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European Journal of Human Genetics : EJHG|March 30, 2006
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populationsSébastien Albert, Hélène Blons, Laurence Jonard, et al.Elife|August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune functionMengqi Ma, Yiming Zheng, Mingxi Deng, et al.American Journal of Human Genetics|October 23, 2003
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studyIgnacio Del Castillo, Miguel A Moreno-Pelayo, Francisco J Del Castillo, et al.American Journal of Medical Genetics. Part A|May 20, 2004
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysisDelphine Feldmann, Françoise Denoyelle, Pierre Chauvin, et al.Journal of Medical Genetics|November 29, 2012
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresiaChristopher T Gordon, Florence Petit, Myriam Oufadem, et al.Archives of Otolaryngology--Head & Neck Surgery|June 22, 2005
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patientsSandrine Marlin, Delphine Feldmann, Hélène Blons, et al.Brain : a Journal of Neurology|June 4, 2024
TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalusPhan Q Duy, Bettina Jux, Shujuan Zhao, et al.Audiology Research|May 23, 2023
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing ImpairmentLaurence Jonard, Davide Brotto, Miguel A Moreno-Pelayo, et al.Molecular Psychiatry|October 30, 2024
Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delaySenwei Tan, Qiumeng Zhang, Rui Zhan, et al.European Journal of Human Genetics : EJHG|January 16, 2014
Myhre and LAPS syndromes: clinical and molecular review of 32 patientsCaroline Michot, Carine Le Goff, Clémentine Mahaut, et al.Pageof 12