Article

Neurodevelopmental disease genes implicated by <i>de novo</i> mutation and CNV morbidity

2017-10-28

Abstract excerpt

<h4>ABSTRACT</h4> We combined de novo mutation (DNM) data from 10,927 cases of developmental delay and autism to identify 301 candidate neurodevelopmental disease genes showing an excess of missense and/or likely gene-disruptive (LGD) mutations. 164 genes were predicted by two different DNM models, including 116 genes with an excess of LGD mutations. Among the 301 genes, 76% show DNM in both autism and intellect...

Topics

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

Identifiers and source

Literature Corpus work: 6b042e80-8fef-540c-8b1c-ef3edfe23f62
DOI: 10.1101/209908

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Neurodevelopmental disease genes implicated by <i>de novo</i> mutation and CNV morbidityDOI 10.1101/209908Read

Integrated gene analyses of <i>de novo</i> mutations from 46,612 trios with autism and developmental disordersSemantic proximity Read

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.Semantic proximity Read

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disordersSemantic proximity Read

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

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders.Semantic proximity Read

De novo genic mutations among a Chinese autism spectrum disorder cohort.Semantic proximity Read

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.Semantic proximity Read

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early developmentSemantic proximity Read

Targeted Sequencing and Integrative Analysis to Prioritise Candidate Genes in Neurodevelopmental DisordersSemantic proximity Read

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.Semantic proximity Read

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.Semantic proximity Read

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Semantic proximity Read