换一批
换一批
第一作者：
Gareth S,Baynam
第一单位：
Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
作者：
Gareth S,Baynam [1]
;
Stephen,Groft [2]
;
Francois H,van der Westhuizen [3]
;
Safiyya D,Gassman [4]
;
Kelly,du Plessis [5]
;
Emily P,Coles [6]
;
Eda,Selebatso [7]
;
Moses,Selebatso [8]
;
Boikobo,Gaobinelwe [9]
;
Tebogo,Selebatso [9]
;
Dipesalema,Joel [9]
;
Virginia A,Llera [9]
;
Barend C,Vorster [10]
;
Barbara,Wuebbels [11]
;
Benjamin,Djoudalbaye [12]
;
Christopher P,Austin [13]
;
Judit,Kumuthini [14]
;
John,Forman [15]
;
Petra,Kaufmann [4]
;
James,Chipeta [16]
;
Désirée,Gavhed [17]
;
Annika,Larsson [18]
;
Maja,Stojiljkovic [19]
;
Ann,Nordgren [20]
;
Emilio J A,Roldan [21]
;
Domenica,Taruscio [22]
;
Durhane,Wong-Rieger [23]
;
Kristen,Nowak [24]
;
Gemma A,Bilkey [25]
;
Simon,Easteal [26]
;
Sarah,Bowdin [27]
;
Juergen K V,Reichardt [28]
;
Sergi,Beltran [8]
;
Kenjiro,Kosaki [8]
;
Clara D M,van Karnebeek [29]
;
Mengchun,Gong [30]
;
Zhang,Shuyang [31]
;
Ruty,Mehrian-Shai [32]
;
David R,Adams [33]
;
Ratna D,Puri [34]
;
Feng,Zhang [35]
;
Nicholas,Pachter [36]
;
Maximilian,Muenke [37]
;
Christoffer,Nellaker [38]
;
William A,Gahl [39]
;
Helene,Cederroth [40]
;
Stephanie,Broley [41]
;
Maryke,Schoonen [42]
;
Kym M,Boycott [43]
;
Manuel,Posada [1]
作者单位：
Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
[1]
The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
[2]
School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.
[3]
National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.
[4]
Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za.
[5]
Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA.
[6]
Rare Diseases South Africa, Johannesburg, South Africa.
[7]
Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
[8]
Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.
[9]
Botswana University of Agriculture and Natural Resources, Gaborone, Botswana.
[10]
Department of Pediatric and Adolescent Medicine, Faculty of Medicine, University of Botswana School of Medicine, Botswana-Baylor Children's Clinical Centre of Excellence and Princess Marina Hospital, Gaborone, Botswana.
[11]
GEISER Foundation, Mendoza, Argentina.
[12]
Laboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa.
[13]
Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA.
[14]
Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia.
[15]
Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa.
[16]
Unaffiliated rare-disease advocate, Wellington, New Zealand.
[17]
AveXis, San Diego, CA, USA.
[18]
University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals-Lusaka Children Hospital, Lusaka, Zambia.
[19]
Department of Women's and Children's Health, Childhood Cancer Research Unit, Karolinska Institutet, and Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden.
[20]
Regional Cancer Center Uppsala Örebro, Uppsala, Sweden.
[21]
Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia.
[22]
Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
[23]
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden.
[24]
Innovation Division, GADOR SA, Buenos Aires, Argentina.
[25]
National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.
[26]
Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.
[27]
Rare Diseases International, Geneva, Switzerland.
[28]
Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.
[29]
John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia.
[30]
Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK.
[31]
Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia.
[32]
Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.
[33]
Universitat Pompeu Fabra (UPF), Barcelona, Spain.
[34]
Center for Medical Genetics, Keio University, Tokyo, Japan.
[35]
Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands.
[36]
Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands.
[37]
National Rare Diseases Registry System of China (NRDRS), Beijing, China.
[38]
Peking Union Medical College Hospital, Beijing, China.
[39]
Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel.
[40]
Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
[41]
Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India.
[42]
SeekIn. Inc., Yantian, Shenzhen, Guangdong, China.
[43]
School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.
[44]
School of Medicine, Curtin University, Perth, Western Australia, Australia.
[45]
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
[46]
Nuffield Department of Women's and Reproductive Health, University of Oxford, and Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
[47]
National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA.
[48]
Wilhelm Foundation, Sandbacken, Brottby, Sweden.
[49]
Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa.
[50]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.
[51]
Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
[52]
主题词
非洲(Africa);健康计划(Health Planning);健康促进(Health Promotion);人类(Humans);国际合作(International Cooperation);少见病(Rare Diseases)
DOI
10.1038/s41588-019-0552-2
PMID
31873296
发布时间
2021-02-03
- 浏览2
Nature genetics
Nature genetics
21-26页
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