Browsing by Author "Bademci, Guney"

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

Bademci, Guney; Foster, Joseph, II; Mahdieh, Nejat; Bonyadi, Mortaza; Duman, Duygu; Cengiz, F. Basak; Menendez, Ibis (Nature Publishing Group, 2016)

Purpose: Autosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing ...
Evidence for genotype-phenotype correlation for OTOF mutations

Yildirim-Baylan, Muzeyyen; Bademci, Guney; Duman, Duygu; Ozturkmen-Akay, Hatice; Tokgoz-Yilmaz, Suna; Tekin, Mustafa (Elsevier Ireland Ltd, 2014)

Objectives: The aim of this study is to evaluate the auditory phenotype in subjects with OTOF gene mutations to describe genotype-phenotype correlations. Methods: Twenty-two affected members from three families with ...
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

Bademci, Guney; Lachgar-Ruiz, Maria; Deokar, Mangesh; Zafeer, Mohammad Faraz; Abad, Clemer; Baylan, Muzeyyen Yildirim; Ingham, Neil J. (Natl Acad Sciences, 2022)

Discovery of deafness genes and elucidating their functions have substantially contributed to our understanding of hearing physiology and its pathologies. Here we report on DNA variants in MINAR2, encoding membrane integral ...