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

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

doi:10.1371/journal.pone.0256181

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Open Access

Peer-reviewed

Research Article

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

Hemant Bengani ,

Roles Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

¶‡ HB, DG, LM and SB share first authorship on this work. FLR, HRC and DRF are joint senior authors on this work

Affiliation MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom
⨯
Detelina Grozeva ,

Roles Resources, Validation

¶‡ HB, DG, LM and SB share first authorship on this work. FLR, HRC and DRF are joint senior authors on this work

Affiliations Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom, Institute of Psychological Medicine & Clinical Neurosciences, Cardiff University, Cardiff, United Kingdom

https://orcid.org/0000-0003-3239-8415

⨯
Lambert Moyon ,

Roles Data curation, Formal analysis, Software

¶‡ HB, DG, LM and SB share first authorship on this work. FLR, HRC and DRF are joint senior authors on this work

Affiliation Ecole Normale Supérieure, Institut de Biologie de l’ENS, IBENS, Paris, France

https://orcid.org/0000-0003-2390-3942

⨯
Shipra Bhatia ,

Roles Investigation, Methodology, Validation, Visualization, Writing – original draft

¶‡ HB, DG, LM and SB share first authorship on this work. FLR, HRC and DRF are joint senior authors on this work

Affiliation MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom

https://orcid.org/0000-0002-2091-7858

⨯
Susana R. Louros,

Roles Methodology, Validation, Visualization

Affiliations 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

https://orcid.org/0000-0002-1012-0386

⨯
Jilly Hope,

Roles Methodology, Validation, Visualization

Affiliation Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
⨯
Adam Jackson,

Roles Methodology, Validation, Visualization

Affiliation Centre for Discovery Brain Sciences, Patrick Wild Centre, University of Edinburgh, Edinburgh, United Kingdom

https://orcid.org/0000-0002-3554-6682

⨯
James G. Prendergast,

Roles Data curation, Formal analysis

Affiliation Roslin Institute, University of Edinburgh, Edinburgh, United Kingdom

https://orcid.org/0000-0001-8916-018X

⨯
Liusaidh J. Owen,

Roles Formal analysis

Affiliation MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom

https://orcid.org/0000-0003-0363-1775

⨯
Magali Naville,

Roles Formal analysis

Affiliation Ecole Normale Supérieure, Institut de Biologie de l’ENS, IBENS, Paris, France

https://orcid.org/0000-0002-6821-2427

⨯
Jacqueline Rainger,

Roles Formal analysis, Validation, Visualization

Affiliation MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom
⨯
Graeme Grimes,

Roles Data curation, Formal analysis, Visualization

Affiliation Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

https://orcid.org/0000-0002-3106-5996

⨯
Mihail Halachev,

Roles Formal analysis

Affiliation Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

https://orcid.org/0000-0002-4594-4588

⨯
Laura C. Murphy,

Roles Formal analysis

Affiliation Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

https://orcid.org/0000-0003-0029-0434

⨯
Olivera Spasic-Boskovic,

Roles Formal analysis, Resources

Affiliation 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

https://orcid.org/0000-0003-1583-8132

⨯
Veronica van Heyningen,

Roles Conceptualization, Writing – review & editing

Affiliation MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom

https://orcid.org/0000-0003-0359-0141

⨯
Peter Kind,

Roles Resources, Writing – review & editing

Affiliations 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
⨯
Catherine M. Abbott,

Roles Resources, Writing – review & editing

Affiliations Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom, Institute of Genomic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

https://orcid.org/0000-0001-8794-7173

⨯
Emily Osterweil,

Roles Resources, Writing – review & editing

Affiliations 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

https://orcid.org/0000-0003-0582-2284

⨯
F. Lucy Raymond ,

Roles Conceptualization, Data curation, Funding acquisition, Resources, Writing – review & editing

¶‡ HB, DG, LM and SB share first authorship on this work. FLR, HRC and DRF are joint senior authors on this work

Affiliation Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom
⨯
Hugues Roest Crollius ,

Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Supervision, Writing – review & editing

¶‡ HB, DG, LM and SB share first authorship on this work. FLR, HRC and DRF are joint senior authors on this work

Affiliation Ecole Normale Supérieure, Institut de Biologie de l’ENS, IBENS, Paris, France
⨯
[ ... ],
David R. FitzPatrick

Roles Conceptualization, Funding acquisition, Methodology, Supervision, Visualization, Writing – original draft, Writing – review & editing

* E-mail: david.fitzpatrick@hgu.mrc.ac.uk, David.FitzPatrick@igmm.ed.ac.uk

¶‡ HB, DG, LM and SB share first authorship on this work. FLR, HRC and DRF are joint senior authors on this work

Affiliations MRC Human Genetics Unit, IGMM, University of Edinburgh (UoE), Edinburgh, United Kingdom, Simons Initiative for the Developing Brain, University of Edinburgh, Edinburgh, United Kingdom

https://orcid.org/0000-0003-4861-969X

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

Hemant Bengani,
Detelina Grozeva,
Lambert Moyon,
Shipra Bhatia,
Susana R. Louros,
Jilly Hope,
Adam Jackson,
James G. Prendergast,
Liusaidh J. Owen,
Magali Naville

Published: August 13, 2021
https://doi.org/10.1371/journal.pone.0256181

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