Gema Garrido

Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

Min‐Xin Guan, Qingfeng Yan, Xiaoming Li et al. · The American Journal of Human Genetics · 2006 · 222 citations · Full text

Rna Modification, Mitochondrial Biogenesis, Mitochondrial Function +10

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

A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment

Marta Gandía, Francisco Castillo, Francisco Javier Álvarez Rodríguez et al. · PLoS ONE · 2013 · 22 citations · Full text

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA^Ser(UCN) in sensorineural hearing loss

Valentina Labay, Gema Garrido, Nance We et al. · Clinical Genetics · 2007 · 16 citations