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Article

DNA methylation episignatures: insight into copy number variation.

Epigenomics - 1 Nov 2022

van der Laan Liselot, Rooney Kathleen, Trooster Tessa Ma, Mannens Marcel Mam, Sadikovic Bekim, Henneman Peter

Abstract excerpt

In this review we discuss epigenetic disorders that result from aberrations in genes linked to epigenetic regulation. We describe current testing methods for the detection of copy number variants (CNVs) in Mendelian disorders, dosage sensitivity, reciprocal phenotypes and the challenges of test selection and overlapping clinical features in genetic diagnosis. We discuss aberrations of DNA methylation and propose...

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PMID: 36537268
DOI: 10.2217/epi-2022-0287

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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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