Journal ID (nlm-ta): J Med Genet
Journal ID (iso-abbrev): J Med Genet
Journal ID (hwp): jmedgenet
Journal ID (publisher-id): jmg
Title:
Journal of Medical Genetics
Publisher:
BMJ Publishing Group
(BMA House, Tavistock Square, London, WC1H 9JR
)
ISSN
(Print):
0022-2593
ISSN
(Electronic):
1468-6244
Publication date
(Print):
December
2021
Publication date
(Electronic):
10
November
2020
Volume: 58
Issue: 12
Pages: 815-831
Affiliations
[1
]
departmentCenter for Integrative Genomics , University of Lausanne , Lausanne, Switzerland
[2
]
departmentDepartment of Neuromuscular Disorders , Queen Square Institute of Neurology, University College London , London, UK
[3
]
departmentCardiovascular Assessment Facility , University of Lausanne , Lausanne, Switzerland
[4
]
departmentBioinformatics Competence Center , University of Lausanne , Lausanne, Switzerland
[5
]
departmentService de Génétique , Hopital Femme Mere Enfant , Bron, France
[6
]
departmentDepartment of Pediatric Neurology , The Children's Hospital and Institute of Child Health , Lahore, Pakistan
[7
]
departmentDepartment of Paediatric Neurology , Children's Hospital and Institute of Child Health , Multan, Pakistan
[8
]
departmentDepartment of Developmental-Behavioural Paediatrics , The Children's Hospital and Institute of Child Health , Lahore, Pakistan
[9
]
departmentClinical Genetics Department, Human Genetics and Genome Research Division , National Research Centre , Cairo, Egypt
[10
]
departmentDepartment of Neuroscience and Pediatrics , Howard Hughes Medical Institute , La Jolla, California, USA
[11
]
departmentDepartment of Genetics, Faculty of Science , Shahid Chamran University of Ahvaz , Ahwaz, Iran (the Islamic Republic of)
[12
]
departmentDepartment of Medical Genetics, Faculty of Medicine , Ahvaz Jondishapour University of Medical Sciences , Ahvaz, Iran (the Islamic Republic of)
[13
]
departmentHealth Research Institute, Diabetes Research Center , Ahvaz Jundishapur University of medical Sciences , Ahvaz, Iran (the Islamic Republic of)
[14
]
departmentService de Genetique , Hospices Civils de Lyon , Lyon, France
[15
]
departmentMetabolic Diseases Branch/NIDDK , National Institutes of Health , Bethesda, MD, USA
[16
]
departmentExperimental Cardiology Unit, Department of Cardiovascular Medicine , University of Lausanne , Lausanne, Switzerland
Author notes
[Correspondence to
] Professor Alexandre Reymond, Center for Integrative Genomics, University of Lausanne,
Lausanne 1015, Switzerland;
alexandre.reymond@
123456unil.ch
Author information
Article
Publisher ID:
jmedgenet-2020-107015
DOI: 10.1136/jmedgenet-2020-107015
PMC ID: 8639930
PubMed ID: 33172956
SO-VID: dd2af87e-786f-4681-a32c-f7c780916f92
Copyright © © Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by
BMJ.
License:
This is an open access article distributed in accordance with the Creative Commons
Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute,
remix, transform and build upon this work for any purpose, provided the original work
is properly cited, a link to the licence is given, and indication of whether changes
were made. See:
https://creativecommons.org/licenses/by/4.0/.
Funded by:
Sparks GOSH Charity;
Funded by:
FundRef http://dx.doi.org/10.13039/100013790, Brain Research UK;
Funded by:
FundRef http://dx.doi.org/10.13039/501100008164, Muscular Dystrophy UK;
Funded by:
FundRef http://dx.doi.org/10.13039/501100000833, Rosetrees Trust;
Funded by:
FundRef http://dx.doi.org/10.13039/501100001711, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung;
Award ID: 31003A_182632
Funded by:
FundRef http://dx.doi.org/10.13039/501100001673, Fondation Jérôme Lejeune;
Funded by:
FundRef http://dx.doi.org/10.13039/501100000265, Medical Research Council;
Award ID: G0601943
Award ID: MR/S005021/1
Award ID: MR/S01165X/1
Funded by:
FundRef http://dx.doi.org/10.13039/501100000346, Ataxia UK;
Funded by:
FundRef http://dx.doi.org/10.13039/100013128, Multiple System Atrophy Trust;
Funded by:
FundRef http://dx.doi.org/10.13039/100005202, Muscular Dystrophy Association;