DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

doi:10.1016/j.xhgg.2024.100309

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Article

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.

HGG advances - 18 Jul 2024

Trajkova Slavica, Kerkhof Jennifer, Rossi Sebastiano Matteo, Pavinato Lisa, Ferrero Enza, Giovenino Chiara, Carli Diana, Di Gregorio Eleonora, Marinoni Roberta, Mandrile Giorgia, Palermo Flavia, Carestiato Silvia, Cardaropoli Simona, Pullano Verdiana, Rinninella Antonina, Giorgio Elisa, Pippucci Tommaso, Dimartino Paola, Rzasa Jessica, Rooney Kathleen, McConkey Haley, Petlichkovski Aleksandar, Pasini Barbara, Sukarova-Angelovska Elena, Campbell Christopher M, Metcalfe Kay, Jenkinson Sarah, Banka Siddharth, Mussa Alessandro, Ferrero Giovanni Battista, Sadikovic Bekim, Brusco Alfredo

Abstract excerpt

Analysis of genomic DNA methylation by generating epigenetic signature profiles (episignatures) is increasingly being implemented in genetic diagnosis. Here we report our experience using episignature analysis to resolve both uncomplicated and complex cases of neurodevelopmental disorders (NDDs). We analyzed 97 NDDs divided into (1) a validation cohort of 59 patients with likely pathogenic/pathogenic variants...

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Identifiers

PMID: 38751117
DOI: 10.1016/j.xhgg.2024.100309
PMCID: PMC11216013

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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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