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

The Mendelian disorders of the epigenetic machinery.

Genome research - 1 Oct 2015

Bjornsson Hans Tomas

Abstract excerpt

The Mendelian disorders of the epigenetic machinery are genetic disorders that involve disruption of the various components of the epigenetic machinery (writers, erasers, readers, and remodelers) and are thus expected to have widespread downstream epigenetic consequences. Studying this group may offer a unique opportunity to learn about the role of epigenetics in health and disease. Among these patients,...

Read the complete abstract on PubMed

Topics

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

Share to Epigenesis, Genetic
Share to Genetic Predisposition to Disease
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nervous System Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 26430157
DOI: 10.1101/gr.190629.115
PMCID: PMC4579332

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

The Mendelian disorders of the epigenetic machinery.PMID 26430157Read ↗

[Genetic diseases of epigenetic machinery].Semantic proximity Read ↗

Co-expression patterns define epigenetic regulators associated with neurological dysfunctionSemantic proximity Read ↗

Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?Semantic proximity Read ↗

Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.Semantic proximity Read ↗

The involvement of epigenetic defects in mental retardation.Semantic proximity Read ↗

Abnormalities of the DNA methylation mark and its machinery: an emerging cause of neurologic dysfunction.Semantic proximity Read ↗

Chromatin deregulation in disease.Semantic proximity Read ↗

Mechanisms of chromatin-based epigenetic inheritance.Semantic proximity Read ↗

Epigenetic factors in intellectual disability: the Rubinstein-Taybi syndrome as a paradigm of neurodevelopmental disorder with epigenetic origin.Semantic proximity Read ↗

Epigenetics and complex disease: from etiology to new therapeutics.Semantic proximity Read ↗

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic VariationSemantic proximity Read ↗

Histones: coming of age in Mendelian genetic disorders.Semantic proximity Read ↗

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