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Article

Next-generation sequencing in X-linked intellectual disability.

European journal of human genetics : EJHG - 1 Nov 2015

Tzschach Andreas, Grasshoff Ute, Beck-Woedl Stefanie, Dufke Claudia, Bauer Claudia, Kehrer Martin, Evers Christina, Moog Ute, Oehl-Jaschkowitz Barbara, Di Donato Nataliya, Maiwald Robert, Jung Christine, Kuechler Alma, Schulz Solveig, Meinecke Peter, Spranger Stephanie, Kohlhase Jürgen, Seidel Jörg, Reif Silke, Rieger Manuela, Riess Angelika, Sturm Marc, Bickmann Julia, Schroeder Christopher, Dufke Andreas, Riess Olaf, Bauer Peter

Abstract excerpt

X-linked intellectual disability (XLID) is a genetically heterogeneous disorder with more than 100 genes known to date. Most genes are responsible for a small proportion of patients only, which has hitherto hampered the systematic screening of large patient cohorts. We performed targeted enrichment and next-generation sequencing of 107 XLID genes in a cohort of 150 male patients. Hundred patients had sporadic...

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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: 25649377
DOI: 10.1038/ejhg.2015.5
PMCID: PMC4613482

Genes

IQSEC2
ATRX
DLG3
MED12
OPHN1
ZDHHC9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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