Article

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation

2020-11-08

Abstract excerpt

The Mendelian Disorders of the Epigenetic Machinery (MDEMs) have emerged as a class of Mendelian disorders caused by loss-of-function variants in epigenetic regulators. Although each MDEM has a different causative gene, they exhibit several overlapping disease manifestations. Here, we hypothesize that this phenotypic convergence is a consequence of common abnormalities at the epigenomic level, which directly or in...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: dbf17da8-8cb3-5d70-baf4-8db0a1ca429e
DOI: 10.1101/2020.11.08.373456

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic VariationDOI 10.1101/2020.11.08.373456Read

Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation.Semantic proximity Read

The genetic basis for DNA methylation variation across tissues and developmentSemantic proximity Read

The genetic basis for DNA methylation variation across tissues and development.Semantic proximity Read

Epigenome mapping in normal and disease States.Semantic proximity Read

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

[Genetic diseases of epigenetic machinery].Semantic proximity Read

Multi-omics data analysis implicating epigenetic inheritance in evolution and diseaseSemantic proximity Read

The complexity of epigenetic diseases.Semantic proximity Read

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Semantic proximity Read

Characterizing the molecular impact of KMT2D variants on the epigenetic and transcriptional landscapes in Kabuki syndrome.Semantic proximity Read

Bridging epigenomics and complex disease: the basics.Semantic proximity Read

Characterizing the molecular impact of<i>KMT2D</i>variants on the epigenetic and transcriptional landscapes in Kabuki SyndromeSemantic proximity Read