Aslı Sırmacı

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

Homozygous Mutations in Fibroblast Growth Factor 3 Are Associated with a New Form of Syndromic Deafness Characterized by Inner Ear Agenesis, Microtia, and Microdontia

Mustafa Tekin, Burcu Öztürk Hişmi, Suat Fítöz et al. · The American Journal of Human Genetics · 2007 · 111 citations · Full text

Homozygous Mutations, Developmental Biology, Syndromic Deafness Characterized +10

A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss

Aslı Sırmacı, Seyra Erbek, Justin Price et al. · The American Journal of Human Genetics · 2010 · 72 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: A report of five novel mutations

Aslı Sırmacı, Duygu Duman, Hatice Akay et al. · International Journal of Pediatric Otorhinolaryngology · 2009 · 61 citations

Developmental Biology, Mendelian Disorder, Genetic Disorder +11

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

Berrin Yüksel‐Konuk, Aslı Sırmacı, Gülen Ece Ayten et al. · Rheumatology International · 2009 · 49 citations

Rheumatology, Homozygous Mutations, Musculoskeletal Research +10