Marta Lucía Tamayo

Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa

James D. Eudy, Michael D. Weston, Su-Fang Yao et al. · Science · 1998 · 391 citations

Molecular Physiology, Developmental Biology, Markers Afm268zd1 +14

A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy

Montserrat Rodríguez-Ballesteros, Raúl Reynoso, M. A. Gil Olarte et al. · Human Mutation · 2008 · 178 citations

Utilizing Ethnic-Specific Differences in Minor Allele Frequency to Recategorize Reported Pathogenic Deafness Variants

A. Eliot Shearer, Robert W. Eppsteiner, Kevin T. Booth et al. · The American Journal of Human Genetics · 2014 · 151 citations · Full text

Allelic Variant, Variant Interpretation, Ethnic-specific Differences +9

Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

Lisa M. Astuto, Michael D. Weston, Carol A. Carney et al. · The American Journal of Human Genetics · 2000 · 71 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Allele-Specific Impairment of GJB2 Expression by GJB6 Deletion del(GJB6-D13S1854)

Juan Rodriguez‐Paris, Marta Lucía Tamayo, Nancy Gélvez et al. · PLoS ONE · 2011 · 52 citations · Full text

Allelic Variant, Developmental Biology, Mendelian Disorder +14