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, ss.364-371, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 18 Konu: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1038/gim.2015.89
  • Dergi Adı: GENETICS IN MEDICINE
  • Sayfa Sayıları: ss.364-371

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).