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Article

A de novo paradigm for mental retardation.

Nature genetics - 1 Dec 2010

Vissers Lisenka E L M, de Ligt Joep, Gilissen Christian, Janssen Irene, Steehouwer Marloes, de Vries Petra, van Lier Bart, Arts Peer, Wieskamp Nienke, del Rosario Marisol, van Bon Bregje W M, Hoischen Alexander, de Vries Bert B A, Brunner Han G, Veltman Joris A

Abstract excerpt

The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common neurodevelopmental and psychiatric diseases, explaining a major paradox in evolutionary genetic theory. Here we used a family based exome sequencing app...

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PMID: 21076407
DOI: 10.1038/ng.712

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21076407-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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