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, Oscar; 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; Sennaroglu, Gonca; Blanton, Susan; OZTURKMEN-AKAY, Hatice; Yildirim-Baylan, Muzeyyen; 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

Bademci G., Foster J., MAHDIEH N., BONYADI M., Duman D., Cengiz F. B., ...Daha Fazla

GENETICS IN MEDICINE, cilt.18, sa.4, ss.364-371, 2016 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 18 Sayı: 4
Basım Tarihi: 2016
Doi Numarası: 10.1038/gim.2015.89
Dergi Adı: GENETICS IN MEDICINE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.364-371
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Van Yüzüncü Yıl Üniversitesi Adresli: Evet

Özet

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).