Silvia Modamio‐Høybjør

Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

Ángeles Mencía, Silvia Modamio‐Høybjør, Nick Redshaw et al. · Nature Genetics · 2009 · 548 citations

Developmental Biology, Genetics, Audiology +9

Clinically Relevant Correction of Recessive Dystrophic Epidermolysis Bullosa by Dual sgRNA CRISPR/Cas9-Mediated Gene Editing

José Bonafont, Ángeles Mencía, Marta García et al. · Molecular Therapy · 2019 · 103 citations · Full text

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

Michael S. Hildebrand, Matías Morin, Nicole C. Meyer et al. · Human Mutation · 2011 · 92 citations · Full text

Genetics, Genetic Epidemiology, Pathology +26

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment

Matías Morin, Keith E. Bryan, Fernando Mayo et al. · Human Molecular Genetics · 2009 · 77 citations · Full text

A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss

Silvia Modamio‐Høybjør, Ángeles Mencía, Richard J. Goodyear et al. · The American Journal of Human Genetics · 2007 · 74 citations · Full text

Developmental Biology, Signal Transduction, Signaling Pathway +9