Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

doi:10.1016/j.ajhg.2020.07.003

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Article

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.

American journal of human genetics - 3 Sept 2020

Breen Michael S, Garg Paras, Tang Lara, Mendonca Danielle, Levy Tess, Barbosa Mafalda, Arnett Anne B, Kurtz-Nelson Evangeline, Agolini Emanuele, Battaglia Agatino, Chiocchetti Andreas G, Freitag Christine M, Garcia-Alcon Alicia, Grammatico Paola, Hertz-Picciotto Irva, Ludena-Rodriguez Yunin, Moreno Carmen, Novelli Antonio, Parellada Mara, Pascolini Giulia, Tassone Flora, Grice Dorothy E, Di Marino Daniele, Bernier Raphael A, Kolevzon Alexander, Sharp Andrew J, Buxbaum Joseph D, Siper Paige M, De Rubeis Silvia

Abstract excerpt

Helsmoortel-Van der Aa syndrome (HVDAS) is a neurodevelopmental condition associated with intellectual disability/developmental delay, autism spectrum disorder, and multiple medical comorbidities. HVDAS is caused by mutations in activity-dependent neuroprotective protein (ADNP). A recent study identified genome-wide DNA methylation changes in 22 individuals with HVDAS, adding to the group of neurodevelopmental...

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Identifiers

PMID: 32758449
DOI: 10.1016/j.ajhg.2020.07.003
PMCID: PMC7477006

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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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