第一单位：
Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
作者：
Víctor,Faundes [1]
;
Stephanie,Goh [2]
;
Rhoda,Akilapa [3]
;
Heidre,Bezuidenhout [4]
;
Hans T,Bjornsson [5]
;
Lisa,Bradley [6]
;
Angela F,Brady [3]
;
Elise,Brischoux-Boucher [7]
;
Han,Brunner [8]
;
Saskia,Bulk [9]
;
Natalie,Canham [10]
;
Declan,Cody [6]
;
Maria Lisa,Dentici [11]
;
Maria Cristina,Digilio [11]
;
Frances,Elmslie [12]
;
Andrew E,Fry [13]
;
Harinder,Gill [6]
;
Jane,Hurst [14]
;
Diana,Johnson [15]
;
Sophie,Julia [16]
;
Katherine,Lachlan [17]
;
Robert Roger,Lebel [18]
;
Melissa,Byler [18]
;
Eric,Gershon [19]
;
Edmond,Lemire [20]
;
Maria,Gnazzo [21]
;
Francesca Romana,Lepri [21]
;
Antonia,Marchese [22]
;
Meriel,McEntagart [12]
;
Julie,McGaughran [23]
;
Seiji,Mizuno [24]
;
Nobuhiko,Okamoto [25]
;
Claudine,Rieubland [26]
;
Jonathan,Rodgers [23]
;
Erina,Sasaki [6]
;
Emmanuel,Scalais [27]
;
Ingrid,Scurr [28]
;
Mohnish,Suri [29]
;
Ineke,van der Burgt [30]
;
Naomichi,Matsumoto [31]
;
Noriko,Miyake [31]
;
Valérie,Benoit [32]
;
Damien,Lederer [32]
;
Siddharth,Banka [33]
作者单位：
Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
[1]
School of Medical Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
[2]
NW Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.
[3]
Clinical Unit of Medical Genetics and Genetic Counselling, Tygerberg Academic Hospital, Cape Town, South Africa.;Division of Molecular Biology and Human Genetics, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.
[4]
McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.;Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
[5]
Department of Clinical Genetics, Children's Health Ireland at Crumlin, Dublin, Ireland.
[6]
Centre de Génétique Humaine, Centre Hospitalier et Universitaire, Université de Franche-Comté, Besançon, France.
[7]
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
[8]
Centre de Génétique Humaine, CHU de Liège, Liège, Belgium.
[9]
NW Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK.;Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Crown Street, Liverpool, UK.
[10]
Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[11]
SW Thames Regional Genetics Service, St George's, University of London, London, UK.
[12]
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK.
[13]
NE Thames Genetics Service, Great Ormond Street Hospital, London, UK.
[14]
Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Northern General Hospital, Sheffield, UK.
[15]
Departments of Pathology, Neurosurgery, Oncopediatry, Genetics and Molecular Biology, Toulouse University Hospital, Toulouse, France.
[16]
Wessex Clinical Genetics Service and Division of Human Genetics, Princess Anne Hospital, Southampton, UK.
[17]
Department of Pediatrics, Section of Medical Genetics, SUNY Upstate Medical University, Syracuse, NY, USA.
[18]
Department of Pediatrics, Yale New Haven Health, New Haven, CT, USA.
[19]
Department of Pediatrics, Royal University Hospital, University of Saskatchewan, Saskatoon, SK, Canada.
[20]
Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[21]
Service de Pédiatrie, Centre Hospitalier Régional de Namur, Namur, Belgium.
[22]
Genetic Health Queensland c/-Royal Brisbane and Women's Hospital, Herston, QLD, Australia.
[23]
Department of Clinical Genetics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan.
[24]
Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.;Department of Molecular Medicine, Osaka Women's and Children's Hospital, Osaka, Japan.
[25]
Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.
[26]
Department of Pediatric Neurology, National Hospital, Luxembourg City, Luxembourg.
[27]
Clinical Genetics, University Hospitals Bristol, Bristol, UK.
[28]
Nottingham Clinical Genetics Service, City Hospital Campus, Nottingham, UK.
[29]
Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
[30]
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
[31]
Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.
[32]
Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.;Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK. siddharth.banka@manchester.ac.uk.
[33]
DOI
10.1038/s41436-021-01119-8
PMID
33674768
发布时间
2022-05-31
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