Yoel Hirsch

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

Jun Shen, Andrea M. Oza, Ignacio del Castillo et al. · Genetics in Medicine · 2019 · 98 citations · Full text

Genetics, P.val37ile Variants, Genetic Epidemiology +5

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Emanuele Barca, Rebecca Ganetzky, Prasanth Potluri et al. · Human Molecular Genetics · 2018 · 57 citations · Full text

Mendelian Disorder, Mitochondrial Biogenesis, Mitochondrial Function +15

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

Élodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Allelic Variant, Translational Biology, Genetic Disorder +10

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia

Lynn M. Boyden, Lihi Atzmony, Claire Hamilton et al. · The American Journal of Human Genetics · 2019 · 32 citations · Full text

Genetics, Ap1b1 Cause Ichthyosis, Mendelian Disorder +1

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Alison M. Muir, Jennifer L. Cohen, Sarah E. Sheppard et al. · The American Journal of Human Genetics · 2020 · 29 citations · Full text

Allelic Variant, Translational Biology, Ophthalmology +9