Browsing by Author "Tokgoz-Yilmaz, Suna"

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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 ...
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss

Sineni, Claire J.; Yildirim-Baylan, Muzeyyen; Guo, Shengru; Camarena, Vladimir; Wang, Gaofeng; Tokgoz-Yilmaz, Suna; Duman, Duygu (Springer, 2019)

While the importance of tight junctions in hearing is well established, the role of Claudin- 9 (CLDN9), a tight junction protein, in human hearing and deafness has not been explored. Through whole-genome sequencing, we ...