Tamar Ben‐Yosef

Mutations in the Gene Encoding Tight Junction Claudin-14 Cause Autosomal Recessive Deafness DFNB29

Edward R. Wilcox, Quianna Burton, Sadaf Naz et al. · Cell · 2001 · 437 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Claudin 14 knockout mice, a model for autosomal recessive deafness DFNB29, are deaf due to cochlear hair cell degeneration

Tamar Ben‐Yosef · Human Molecular Genetics · 2003 · 334 citations

Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations

Igor Nudelman, Annie Rebibo-Sabbah, Marina Cherniavsky et al. · Journal of Medicinal Chemistry · 2009 · 184 citations · Full text

Premature Translational Termination, Genetics, Molecular Biology +20

Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics

Mubeen Khan, Stéphanie S. Cornelis, Marta Del Pozo‐Valero et al. · Genetics in Medicine · 2020 · 139 citations · Full text

Functional Genomics, Medicine, Natural Sciences +11

A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews

Lina Zelinger, Eyal Banin, Alexey Obolensky et al. · The American Journal of Human Genetics · 2011 · 138 citations · Full text

Mendelian Disorder, Genetic Disorder, Ashkenazi Jews +7