-
Loading metrics
Open Access
Peer-reviewed
Research Article
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
-
Patricia Blanchet,
Roles Formal analysis, Methodology, Writing – review & editing
Affiliation Département de Génétique Médicale, Hôpital Arnaud de Villeneuve, Montpellier Cedex 5, France
⨯ -
Martina Bebin,
Roles Conceptualization, Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, United States of America
⨯ -
Shaam Bruet,
Roles Formal analysis, Investigation
Affiliation Service de génétique médicale, Hôpitaux Universitaires de Clermont-Ferrand, Clermont-Ferrand, France
⨯ -
Gregory M. Cooper,
Roles Investigation, Methodology, Project administration, Writing – review & editing
Affiliation Human Genetics and Genomics, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America
⨯ -
Michelle L. Thompson,
Roles Formal analysis, Investigation, Methodology, Writing – review & editing
Affiliation Human Genetics and Genomics, HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, United States of America
⨯ -
Benedicte Duban-Bedu,
Roles Formal analysis, Investigation, Methodology, Project administration, Writing – review & editing
Affiliation Centre de génétique chromosomique, 51 Boulevard de Belfort, Lille, France
⨯ -
Benedicte Gerard,
Roles Formal analysis, Funding acquisition, Investigation, Methodology, Writing – review & editing
Affiliation Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
⨯ -
Amelie Piton,
Roles Data curation, Formal analysis, Funding acquisition, Writing – review & editing
Affiliation Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France
⨯ -
Sylvie Suckno,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Service de neuropédiatrie, Hôpital Saint Vincent de Paul, Lille, France
⨯ -
Charu Deshpande,
Roles Investigation, Methodology, Writing – review & editing
Affiliation South East Thames Regional Genetics Service, Guy's Hospital, London, United Kingdom
⨯ -
Virginia Clowes,
Roles Investigation, Methodology, Writing – review & editing
Affiliation North West Thames Regional Genetics Centre, Northwick Park Hospital, Harrow, United Kingdom
⨯ -
Julie Vogt,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Clinical Genetics Unit, Birmingham Women’s Hospital, Birmingham, United Kingdom
⨯ -
Peter Turnpenny,
Roles Investigation, Methodology, Writing – review & editing
Affiliation Peninsula Clinical Genetics, Royal Devon & Exeter Hospital (Heavitree), Exeter, United Kingdom
⨯ -
Michael P. Williamson,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Molecular Biology and Biotechnology, The University of Sheffield, Sheffield, United Kingdom
⨯ -
Yves Alembik,
Roles Formal analysis, Investigation, Writing – review & editing
Affiliation Department of Medical Genetics, CHU Hautepierre, Strasbourg, France
⨯ -
Clinical Sequencing Exploratory Research Study Consortium ,
¶Membership of the Deciphering Developmental Disorders Consortium and the Clinical Sequencing Exploratory Research Study Consortium is provided in the Acknowledgments.
Affiliation Centre de génétique chromosomique, 51 Boulevard de Belfort, Lille, France
⨯ -
Deciphering Developmental Disorders Consortium ,
¶Membership of the Deciphering Developmental Disorders Consortium and the Clinical Sequencing Exploratory Research Study Consortium is provided in the Acknowledgments.
Affiliation Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, United Kingdom
⨯ -
Eric Glasgow,
Roles Investigation, Visualization, Writing – original draft, Writing – review & editing
Affiliation Department of Medicine, Georgetown University, Washington, DC, United States of America
⨯ - [ ... ],
-
Alisdair McNeill
Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Supervision, Writing – original draft, Writing – review & editing
* E-mail: A.mcneill@sheffield.ac.uk
Affiliations Sheffield Institute for Translational Neuroscience, The University of Sheffield, Sheffield, United Kingdom, Sheffield Clinical Genetics Service, Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, United Kingdom
⨯ - [ view all ]
- [ view less ]
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus
- Patricia Blanchet,
- Martina Bebin,
- Shaam Bruet,
- Gregory M. Cooper,
- Michelle L. Thompson,
- Benedicte Duban-Bedu,
- Benedicte Gerard,
- Amelie Piton,
- Sylvie Suckno,
- Charu Deshpande
-
- Published: August 31, 2017
- https://doi.org/10.1371/journal.pgen.1006957