Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

doi:10.1371/journal.pone.0256181

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Article

Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.

PloS one - 1 Jan 2021

Bengani Hemant, Grozeva Detelina, Moyon Lambert, Bhatia Shipra, Louros Susana R, Hope Jilly, Jackson Adam, Prendergast James G, Owen Liusaidh J, Naville Magali, Rainger Jacqueline, Grimes Graeme, Halachev Mihail, Murphy Laura C, Spasic-Boskovic Olivera, van Heyningen Veronica, Kind Peter, Abbott Catherine M, Osterweil Emily, Raymond F Lucy, Roest Crollius Hugues, FitzPatrick David R

Abstract excerpt

Identifying causative variants in cis-regulatory elements (CRE) in neurodevelopmental disorders has proven challenging. We have used in vivo functional analyses to categorize rigorously filtered CRE variants in a clinical cohort that is plausibly enriched for causative CRE mutations: 48 unrelated males with a family history consistent with X-linked intellectual disability (XLID) in whom no detectable cause could...

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PMID: 34388204
DOI: 10.1371/journal.pone.0256181
PMCID: PMC8362966

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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