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Article

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Human genetics - 1 Sept 2018

Santos-Cortez Regie Lyn P, Khan Valeed, Khan Falak Sher, Mughal Zaib-Un-Nisa, Chakchouk Imen, Lee Kwanghyuk, Rasheed Memoona, Hamza Rifat, Acharya Anushree, Ullah Ehsan, Saqib Muhammad Arif Nadeem, Abbe Izoduwa, Ali Ghazanfar, Hassan Muhammad Jawad, Khan Saadullah, Azeem Zahid, Ullah Irfan, Bamshad Michael J, Nickerson Deborah A, Schrauwen Isabelle, Ahmad Wasim, Ansar Muhammad, Leal Suzanne M

Abstract excerpt

Identification of Mendelian genes for neurodevelopmental disorders using exome sequencing to study autosomal recessive (AR) consanguineous pedigrees has been highly successful. To identify causal variants for syndromic and non-syndromic intellectual disability (ID), exome sequencing was performed using DNA samples from 22 consanguineous Pakistani families with ARID, of which 21 have additional phenotypes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 30167849
DOI: 10.1007/s00439-018-1928-6
PMCID: PMC6201268

Genes

CACNG7
CARNMT1
FXR1
GARNL3
TBRG1
TET3
TRAPPC10

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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