Oscar Diaz‐Horta

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort

Güney Bademci, Joseph Foster, Nejat Mahdieh et al. · Genetics in Medicine · 2015 · 158 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +11

Whole-Exome Sequencing Efficiently Detects Rare Mutations in Autosomal Recessive Nonsyndromic Hearing Loss

Oscar Diaz‐Horta, Duygu Duman, Joseph Foster et al. · PLoS ONE · 2012 · 155 citations · Full text

Genetics, Pathology, Arnshl Genes +16

<i>DNASE1L3</i>Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

Zeynep Birsin Özçakar, Joseph Foster, Oscar Diaz‐Horta et al. · Arthritis & Rheumatism · 2013 · 146 citations · Full text

Mutations in OTOGL , Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss

Kemal O. Yariz, Duygu Duman, Celia Zazo Seco et al. · The American Journal of Human Genetics · 2012 · 127 citations · Full text

Developmental Biology, Genetics, Audiology +10

De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis

Willa Thorson, Oscar Diaz‐Horta, Joseph Foster et al. · Human Genetics · 2013 · 101 citations

Urology, Developmental Biology, Medicine +6