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

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.

Human molecular genetics - 30 Sept 2020

Sadikovic Bekim, Levy Michael A, Aref-Eshghi Erfan

Abstract excerpt

The breadth and complexity of genetic testing in patients with suspected Mendelian neurodevelopmental disorders has rapidly expanded in the past two decades. However, in spite of advances in genomic technologies, genetic diagnosis remains elusive in more than half of these patients. Epigenomics, and in particular genomic DNA methylation profiles, are now known to be associated with the underpinning genetic...

Read the complete abstract on PubMed

Topics

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

Share to Biomarkers
Share to DNA Methylation
Share to Epigenesis, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenomics

Share to Genetic Testing

Share to Genetic Variation

Share to Genome

Share to Neurodevelopmental Disorders

Source

Identifiers

PMID: 32644126
DOI: 10.1093/hmg/ddaa144

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional annotation of genomic variation: DNA methylation episignatures in neurodevelopmental Mendelian disorders.PMID 32644126Read ↗

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

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

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

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders.Semantic proximity Read ↗

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

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

Nanopore sequencing-based episignature detectionSemantic proximity Read ↗

DNA methylation episignatures: insight into copy number variation.Semantic proximity Read ↗

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

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.Semantic proximity Read ↗

Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseasesSemantic proximity Read ↗

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