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

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Title: Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
Authors: Bengani H; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom., Grozeva D; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom., Moyon L; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France., Bhatia S; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom., Louros SR; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom., Hope J; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Jackson A; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom., Prendergast JG; Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom., Owen LJ; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom., Naville M; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France., Rainger J; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom., Grimes G; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Halachev M; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Murphy LC; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Spasic-Boskovic O; East Midlands and East of England NHS Genomic Laboratory Hub, Molecular Genetics, Adden brooke's Hospital, Cambridge University Hospitals NHS Foundation Trust Cambridge, Cambridge, United Kingdom., van Heyningen V; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom., Kind P; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom., Abbott CM; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Osterweil E; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom., Raymond FL; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Roest Crollius H; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France., FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.
Source: PloS one [PLoS One] 2021 Aug 13; Vol. 16 (8), pp. e0256181. Date of Electronic Publication: 2021 Aug 13 (Print Publication: 2021).
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1932-6203
DOI:10.1371/journal.pone.0256181