Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.

American journal of human genetics - 4 Jan 2018

Aref-Eshghi Erfan, Rodenhiser David I, Schenkel Laila C, Lin Hanxin, Skinner Cindy, Ainsworth Peter, Paré Guillaume, Hood Rebecca L, Bulman Dennis E, Kernohan Kristin D, Boycott Kym M, Campeau Philippe M, Schwartz Charles, Sadikovic Bekim

Abstract excerpt

Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the "epigenetic machinery"). The mechanistic cross-talk between histone modification and DNA methylation suggests that these...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 5' Untranslated Regions
Share to Demography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Epigenesis, Genetic

Share to Genome, Human

Share to Neurodevelopmental Disorders

Share to Probability

Share to Reproducibility of Results

Source

Open in PubMed Open full text

Identifiers

PMID: 29304373
DOI: 10.1016/j.ajhg.2017.12.008
PMCID: PMC5777983

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.PMID 29304373Read ↗

DNA methylation signatures for chromatinopathies: current challenges and future applications.Semantic proximity Read ↗

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.Semantic proximity Read ↗

Anatomy of DNA methylation signatures: Emerging insights and applications.Semantic proximity Read ↗

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.Semantic proximity Read ↗

DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.Semantic proximity Read ↗

Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.Semantic proximity Read ↗

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disordersSemantic proximity Read ↗

DNA methylation biomarkers of intellectual/developmental disability across the lifespanSemantic proximity Read ↗

DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.Semantic proximity Read ↗

Training with synthetic data provides accurate and openly-available DNA methylation classifiers for developmental disorders and congenital anomalies via MethaDorySemantic proximity Read ↗

Epigenetics, copy number variation, and other molecular mechanisms underlying neurodevelopmental disabilities: new insights and diagnostic approaches.Semantic proximity Read ↗

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 EpisignatureSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.