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Article

Genetic modifiers of rare variants in monogenic developmental disorder loci.

Nature genetics - 1 May 2024

Kingdom Rebecca, Beaumont Robin N, Wood Andrew R, Weedon Michael N, Wright Caroline F

Abstract excerpt

Rare damaging variants in a large number of genes are known to cause monogenic developmental disorders (DDs) and have also been shown to cause milder subclinical phenotypes in population cohorts. Here, we show that carrying multiple (2-5) rare damaging variants across 599 dominant DD genes has an additive adverse effect on numerous cognitive and socioeconomic traits in UK Biobank, which can be partially...

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Identifiers

PMID: 38637616
DOI: 10.1038/s41588-024-01710-0
PMCID: PMC11096126

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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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