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

Bademci, Guney; Foster, Joseph; Mahdieh, Nejat; Bonyadi, Mortaza; Duman, Duygu; Cengiz, F.; Menendez, Ibis; Diaz-Horta, SUNA; Shirkavand, Atefeh; Zeinali, Sirous; Subasioglu, Asli; Tokgoz-Yilmaz, SUNA; Huesca-Hernandez, Fabiola; de la Luz Arenas-Sordo, Maria; Dominguez-Aburto, Juan; Hernandez-Zamora, Edgar; Montenegro, Paola; Paredes, Rosario; Moreta, Germania; Vinueza, Rodrigo; Villegas, Franklin; Mendoza-Benitez, Santiago; Guo, Shengru; Bozan, Nazim; Tos, Tulay; Incesulu, Armagan; SENNAROĞLU, GONCA; Blanton, Susan; Ozturkmen-Akay, Hatice; Yildirim-Baylan, SUNA; Tekin, Mustafa

doi:10.1038/gim.2015.89

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

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Bademci G., Foster J., Mahdieh N., Bonyadi M., Duman D., Cengiz F. B., ...More

GENETICS IN MEDICINE, vol.18, no.4, pp.364-371, 2016 (SCI-Expanded)

Publication Type: Article / Article
Volume: 18 Issue: 4
Publication Date: 2016
Doi Number: 10.1038/gim.2015.89
Journal Name: GENETICS IN MEDICINE
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.364-371
Hacettepe University Affiliated: Yes

Abstract

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 variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).