Article

<i>De novo</i> mutations in regulatory elements cause neurodevelopmental disorders

2017-03-13

Abstract excerpt

<h4>Summary</h4> De novo mutations in hundreds of different genes collectively cause 25-42% of severe developmental disorders (DD). The cause in the remaining cases is largely unknown. The role of de novo mutations in regulatory elements affecting known DD associated genes or other genes is essentially unexplored. We identified de novo mutations in three classes of putative regulatory elements in almost 8,000 D...

Topics

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

Identifiers and source

Literature Corpus work: 07bd4e6e-3e8a-55b8-a072-75c24667f851
DOI: 10.1101/112896

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>De novo</i> mutations in regulatory elements cause neurodevelopmental disordersDOI 10.1101/112896Read

De novo mutations in regulatory elements in neurodevelopmental disorders.Semantic proximity Read

Non-coding variants upstream of<i>MEF2C</i>cause severe developmental disorder through three distinct loss-of-function mechanismsSemantic proximity Read

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevanceSemantic proximity Read

<i>De novo</i> variants in population constrained fetal brain enhancers and intellectual disabilitySemantic proximity Read

Regulatory<i>de novo</i>mutations underlying intellectual disabilitySemantic proximity Read

Prevalence, phenotype and architecture of developmental disorders caused by <i>de novo</i> mutation: The Deciphering Developmental Disorders StudySemantic proximity Read

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disordersSemantic proximity Read

Regulatory de novo mutations underlying intellectual disability.Semantic proximity Read

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Semantic proximity Read

Integrating healthcare and research genetic data empowers the discovery of 28 novel developmental disordersSemantic proximity Read

Comprehensive multi-omics integration identifies differentially active enhancers during human brain development with clinical relevance.Semantic proximity Read

Epigenomic Profiling and Single-Nucleus-RNA-Seq Reveal <i>Cis</i> -Regulatory Elements in Human Retina, Macula and RPE and Non-Coding Genetic VariationSemantic proximity Read