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Article

High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.

Human genetics - 1 Sept 2015

Yavarna Tarunashree, Al-Dewik Nader, Al-Mureikhi Mariam, Ali Rehab, Al-Mesaifri Fatma, Mahmoud Laila, Shahbeck Noora, Lakhani Shenela, AlMulla Mariam, Nawaz Zafar, Vitazka Patrik, Alkuraya Fowzan S, Ben-Omran Tawfeg

Abstract excerpt

Clinical exome sequencing (CES) has become an increasingly popular diagnostic tool in patients with heterogeneous genetic disorders, especially in those with neurocognitive phenotypes. Utility of CES in consanguineous populations has not yet been determined on a large scale. A clinical cohort of 149 probands from Qatar with suspected Mendelian, mainly neurocognitive phenotypes, underwent CES from July 2012 to...

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Identifiers

PMID: 26077850
DOI: 10.1007/s00439-015-1575-0

Genes

GJA9
GLG1
MANF
NEUROG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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