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Article

Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.

Omics : a journal of integrative biology - 1 May 2017

Muthusamy Babylakshmi, Selvan Lakshmi Dhevi N, Nguyen Thong T, Manoj Jesna, Stawiski Eric W, Jaiswal Bijay S, Wang Weiru, Raja Remya, Ramprasad Vedam Laxmi, Gupta Ravi, Murugan Sakthivel, Kadandale Jayarama S, Prasad T S Keshava, Reddy Kavita, Peterson Andrew, Pandey Akhilesh, Seshagiri Somasekar, Girimaji Satish Chandra, Gowda Harsha

Abstract excerpt

Robust diagnostics for many human genetic disorders are much needed in the pursuit of global personalized medicine. Next-generation sequencing now offers new promise for biomarker and diagnostic discovery, in developed as well as resource-limited countries. In this broader global health context, X-linked intellectual disability (XLID) is an inherited genetic disorder that is associated with a range of 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: 28481730
DOI: 10.1089/omi.2017.0009
PMCID: PMC5586158

Genes

CASK
MECP2
PAK3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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