Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability

Taşkıran Z. E., Karaosmanoglu B., Kosukcu C., Urel-Demir G., Akgun-Dogan O., Simsek-Kiper P. O., ...More

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, vol.65, no.6, pp.577-588, 2021 (SSCI, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 65 Issue: 6
  • Publication Date: 2021
  • Doi Number: 10.1111/jir.12835
  • Journal Name: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
  • Journal Indexes: Social Sciences Citation Index (SSCI), Scopus, Academic Search Premier, ASSIA, PASCAL, BIOSIS, CINAHL, EBSCO Education Source, Educational research abstracts (ERA), EMBASE, ERIC (Education Resources Information Center), Linguistics & Language Behavior Abstracts, MEDLINE, Psycinfo, Public Affairs Index
  • Page Numbers: pp.577-588
  • Keywords: consanguinity, diagnostic yield, non&#8208, syndromic intellectual disability, whole&#8208, exome sequencing
  • Hacettepe University Affiliated: Yes

Abstract

Background Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians.