Saber Masmoudi

A year of genomic surveillance reveals how the SARS-CoV-2 pandemic unfolded in Africa

Eduan Wilkinson, Marta Giovanetti, Houriiyah Tegally et al. · Science · 2021 · 221 citations · Full text

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus

Elisabeth Verpy, Saber Masmoudi, Ingrid Zwaenepoel et al. · Nature Genetics · 2001 · 191 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +8

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents

Denise Yan, Demet Tekin, Güney Bademci et al. · Human Genetics · 2016 · 136 citations · Full text

Allelic Variant, Multiple Continents, Mendelian Disorder +12

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

M’hamed Grati, Imen Chakchouk, Qi Ma et al. · Human Molecular Genetics · 2015 · 97 citations · Full text

Genetics, Cytoskeleton, Disease Gene Identification +20

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

Marina T. DiStefano, Sarah E. Hemphill, Andrea M. Oza et al. · Genetics in Medicine · 2019 · 91 citations · Full text

Genetic Epidemiology, Audiology, Pathology +9