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Article

DNA methylation signatures for chromatinopathies: current challenges and future applications.

Human genetics - 1 Apr 2024

Awamleh Zain, Goodman Sarah, Choufani Sanaa, Weksberg Rosanna

Abstract excerpt

Pathogenic variants in genes that encode epigenetic regulators are the cause for more than 100 rare neurodevelopmental syndromes also termed "chromatinopathies". DNA methylation signatures, syndrome-specific patterns of DNA methylation alterations, serve as both a research avenue for elucidating disease pathophysiology and a clinical diagnostic tool. The latter is well established, especially for the...

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Identifiers

PMID: 37022461
DOI: 10.1007/s00439-023-02544-2
PMCID: PMC11078831

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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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