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Article

De novo mutations in human genetic disease.

Nature reviews. Genetics - 18 Jul 2012

Veltman Joris A, Brunner Han G

Abstract excerpt

New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based whole-genome or whole-exome sequencing approaches. In this Review we discuss recent findings suggesting that de novo mutations play a prominent part in rare and common forms of neurodevelopmental diseases, including intellectual disability, autism and...

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PMID: 22805709
DOI: 10.1038/nrg3241

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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.

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