Concepedia

Matías Morin

MM

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Publications

24

Citations

1.4K

H-Index

18

Active since

2006

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Instituto Ramón y Cajal de Investigación Sanitaria

Hospital Universitario Ramón y Cajal

Instituto de Salud Carlos III

Centro de Investigación Biomédica en Red

Matías Morin is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, genetics, and molecular genetics.

ORCID

Top concepts

Publications per year

2006–2023

24

Publications

24

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

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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

, , +26

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

, , +9

Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants

Matías Morin, Lucía Borreguero, Kevin T. Booth et al. · Scientific Reports · 2020 · 84 citations · Full text

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

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