Tzvi Weiden

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 · 105 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome

Rie Asada Kitamura, Kristina G. Maxwell, Wenjuan Ye et al. · JCI Insight · 2022 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing

Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth et al. · European Journal of Human Genetics · 2021 · 16 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15