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. |
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| 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 |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34388204 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bengani+H%22">Bengani H</searchLink>; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Grozeva+D%22">Grozeva D</searchLink>; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.; Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Moyon+L%22">Moyon L</searchLink>; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bhatia+S%22">Bhatia S</searchLink>; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Louros+SR%22">Louros SR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hope+J%22">Hope J</searchLink>; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jackson+A%22">Jackson A</searchLink>; Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Prendergast+JG%22">Prendergast JG</searchLink>; Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Owen+LJ%22">Owen LJ</searchLink>; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Naville+M%22">Naville M</searchLink>; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rainger+J%22">Rainger J</searchLink>; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Grimes+G%22">Grimes G</searchLink>; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Halachev+M%22">Halachev M</searchLink>; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Murphy+LC%22">Murphy LC</searchLink>; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Spasic-Boskovic+O%22">Spasic-Boskovic O</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22van+Heyningen+V%22">van Heyningen V</searchLink>; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Kind+P%22">Kind P</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abbott+CM%22">Abbott CM</searchLink>; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom.; Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Osterweil+E%22">Osterweil E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Raymond+FL%22">Raymond FL</searchLink>; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Roest+Crollius+H%22">Roest Crollius H</searchLink>; Ecole Normale Supérieure, Institut de Biologie de l'ENS, IBENS, Paris, France.<br /><searchLink fieldCode="AU" term="%22FitzPatrick+DR%22">FitzPatrick DR</searchLink>; MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom.; Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101285081%22">PloS one</searchLink> [PLoS One] 2021 Aug 13; Vol. 16 (8), pp. e0256181. <i>Date of Electronic Publication: </i>2021 Aug 13 (<i>Print Publication: </i>2021). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Public+Library+of+Science%22">Public Library of Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101285081 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>1932-6203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2219326203%22">19326203 </searchLink><i>NLM ISO Abbreviation: </i>PLoS One <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34388204 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1371/journal.pone.0256181 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: e0256181 Titles: – TitleFull: Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bengani H – PersonEntity: Name: NameFull: Grozeva D – PersonEntity: Name: NameFull: Moyon L – PersonEntity: Name: NameFull: Bhatia S – PersonEntity: Name: NameFull: Louros SR – PersonEntity: Name: NameFull: Hope J – PersonEntity: Name: NameFull: Jackson A – PersonEntity: Name: NameFull: Prendergast JG – PersonEntity: Name: NameFull: Owen LJ – PersonEntity: Name: NameFull: Naville M – PersonEntity: Name: NameFull: Rainger J – PersonEntity: Name: NameFull: Grimes G – PersonEntity: Name: NameFull: Halachev M – PersonEntity: Name: NameFull: Murphy LC – PersonEntity: Name: NameFull: Spasic-Boskovic O – PersonEntity: Name: NameFull: van Heyningen V – PersonEntity: Name: NameFull: Kind P – PersonEntity: Name: NameFull: Abbott CM – PersonEntity: Name: NameFull: Osterweil E – PersonEntity: Name: NameFull: Raymond FL – PersonEntity: Name: NameFull: Roest Crollius H – PersonEntity: Name: NameFull: FitzPatrick DR IsPartOfRelationships: – BibEntity: Dates: – D: 13 M: 08 Text: 2021 Aug 13 Type: published Y: 2021 Identifiers: – Type: issn-electronic Value: 1932-6203 Numbering: – Type: volume Value: 16 – Type: issue Value: 8 Titles: – TitleFull: PloS one Type: main |
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