Identification of a founder mutation for Pendred syndrome in families from northwest Iran

Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)

Lorraine A. Everett, Benjamin Gläser, John C. Beck et al. · Nature Genetics · 1997 · 1.1K citations

Urology, Mendelian Disorder, Genetic Disorder +7

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

Sébastien Albert, Hélène Blons, Laurence Jonard et al. · European Journal of Human Genetics · 2006 · 240 citations · Full text

Developmental Biology, Medicine, Genetics +11

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

Zippora Brownstein, Lilach M. Friedman, Hashem Shahin et al. · Genome biology · 2011 · 201 citations · Full text

Deafness and Hereditary Hearing Loss Overview

Richard J. Smith, A. Eliot Shearer, Michael S. Hildebrand et al. · Journal of General Microbiology · 2014 · 142 citations

Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

Takehiko Naito, Shin‐ya Nishio, Yoh-ichiro Iwasa et al. · PLoS ONE · 2013 · 66 citations · Full text

Founder Mutation, Genotype-phenotype Correlations, Deafness Gene +14