Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Baynam GS"'
Autor:
Sarna M; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia., Pereira GF; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; Centre for Fertility and Health, Norwegian Institute of Public Health, Oslo, Norway., Foo D; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia., Baynam GS; King Edward Memorial Hospital, Western Australian Department of Health, Subiaco, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics, The University of Western Australia, Crawley, Western Australia, Australia., Regan AK; Curtin School of Population Health, Curtin University, Bentley, Western Australia, Australia.; Wesfarmers Centre of Vaccines & Infectious Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; School of Nursing and Health Professions, University of San Francisco, San Francisco, California, USA.
Publikováno v:
Birth defects research [Birth Defects Res] 2022 Nov 15; Vol. 114 (19), pp. 1244-1256. Date of Electronic Publication: 2022 Jun 09.
Autor:
Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK. j.jacobsen@qmul.ac.uk., Baudis M; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland.; Computational Oncogenomics Group, Swiss Institute of Bioinformatics, Zürich, Switzerland., Baynam GS; Western Australian Register of Developmental Anomalies and Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.; Genetic and Rare Diseases, Telethon Kids Institute, Perth, Western Australia, Australia., Beckmann JS; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland., Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain., Buske OJ; PhenoTips, Toronto, Ontario, Canada., Callahan TJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Chute CG; Schools of Medicine, Public Health, and Nursing, Baltimore, Johns Hopkins University, Baltimore, MD, USA., Courtot M; European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI), Hinxton, UK.; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada., Danis D; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Elemento O; Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA., Essenwanger A; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA., Gargano MA; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Groza T; EMBL-EBI, Cambridge, UK., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Kaliyaperumal R; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Lloyd KCK; Mouse Biology Program, University of California Davis, Davis, CA, USA.; Department of Surgery, University of California Davis School of Medicine, Sacramento, CA, USA., Khalifa A; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA., Krawitz PM; University Hospital Bonn, Bonn, Germany, and Institute for Genomic Statistics and Bioinformatics, Bonn, Germany., Köhler S; Ada Health GmbH, Berlin, Germany., Laraway BJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Lehväslaiho H; Sensitive Data Services, CSC-IT Center for Science, Espoo, Finland., Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., McMurry JA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Metke-Jimenez A; The Australian e-Health Research Centre, CSIRO, Herston, Queensland, Australia., Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Munoz-Torres MC; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Ogishima S; Tohoku University, INGEM, Sendai, Japan., Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain., Pontikos N; Institute of Ophthalmology, University College London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, UK., Queralt-Rosinach N; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Roos M; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Sass J; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Schofield PN; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.; The Alan Turing Institute, London, UK., Seelow D; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Siapos A; Lifebit Biotech Ltd., London, UK., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Smith LD; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Global Alliance for Genomics and Health, N/A, Toronto, Ontario, Canada., Steinhaus R; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany., Sundaramurthi JC; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA., Swietlik EM; 40Medicine Department, University of Cambridge, Cambridge, UK.; Respiratory Medicine Department, Addenbrooke's Hospital, Cambridge, UK.; Cambridge Centre for Lung Infection, Royal Papworth Hospital, Cambridge, UK., Thun S; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany., Vasilevsky NA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Wagner AH; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Warner JL; Departments of Medicine and Biomedical Informatics, Vanderbilt University, Nashville, TN, USA., Weiland C; Senckenberg-Leibniz Institution for Biodiversity and Earth System Research, Data and Modelling Centre, Frankfurt/Main, Germany., Haendel MA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. melissa@tislab.org., Robinson PN; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA. peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. peter.robinson@jax.org.
Publikováno v:
Nature biotechnology [Nat Biotechnol] 2022 Jun; Vol. 40 (6), pp. 817-820.
Autor:
Hansen M; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Greenop K; Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Yim D; Department of Paediatric Cardiology, Perth Children's Hospital, Perth, Western Australia, Australia., Ramsay J; Department of Paediatric Cardiology, Perth Children's Hospital, Perth, Western Australia, Australia., Thomas Y; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia., Baynam GS; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Telethon Kids Institute and Division of Paediatrics, Faculty of Health and Medicine, University of Western Australia, Perth, Western Australia, Australia.
Publikováno v:
Journal of paediatrics and child health [J Paediatr Child Health] 2021 Oct; Vol. 57 (10), pp. 1672-1680. Date of Electronic Publication: 2021 May 29.
Autor:
Matthews HS; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium. harry.matthews@kuleuven.be.; Medical Imaging Research Center, UZ Leuven, Herestraat 49, 3000, Leuven, Belgium. harry.matthews@kuleuven.be.; Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, 3052, Australia. harry.matthews@kuleuven.be., Palmer RL; School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, 6845, Australia., Baynam GS; School of Earth and Planetary Sciences, Faculty of Science and Engineering, Curtin University, Perth, 6845, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; Telethon Kids Institute and Division of Paediatrics, Faculty of Health and Medical Sciences, University of Western Australia, Perth, Australia.; Faculty of Medicine, Notre Dame University, Fremantle, Australia., Quarrell OW; Dept Clinical Genetics, Sheffield Children's NHS Trust, OPDII Northern General Hospital, Herries Road, Sheffield, S5 7AU, UK., Klein OD; Program in Craniofacial Biology, Departments of Orofacial Sciences and Pediatrics, and Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA., Spritz RA; Human Medical Genetics and Genomics Program, University of Colorado School of Medicine, Aurora, CO, USA., Hennekam RC; Department of Pediatrics, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Walsh S; Department of Biology, Indiana University Purdue University Indianapolis, Indianapolis, IN, 46202, USA., Shriver M; Department of Anthropology, Pennsylvania State University, State College, PA, 16802, USA., Weinberg SM; Center for Craniofacial and Dental Genetics, University of Pittsburgh, Pittsburgh, PA, 15219, USA., Hallgrimsson B; Department of Cell Biology & Anatomy, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, T2T 4N1, Canada., Hammond P; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium., Penington AJ; Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, 3052, Australia.; Department of Plastic and Maxillofacial Surgery, Royal Children's Hospital, Melbourne, 3052, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, 3052, Australia., Peeters H; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium., Claes PD; Department of Human Genetics, KU Leuven, 3000, Leuven, Belgium.; Medical Imaging Research Center, UZ Leuven, Herestraat 49, 3000, Leuven, Belgium.; Facial Sciences Research Group, Murdoch Children's Research Institute, Parkville, 3052, Australia.; Department of Electrical Engineering, ESAT/PSI, KU Leuven, 3000, Leuven, Belgium.
Publikováno v:
Scientific reports [Sci Rep] 2021 Jun 09; Vol. 11 (1), pp. 12175. Date of Electronic Publication: 2021 Jun 09.
Autor:
Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Field M; Cancer Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.; GOLD Service, Hunter-New England Health Service, Newcastle, New South Wales, Australia., Baynam GS; Department of Health, Genetic Services of Western Australia, Perth, Western Australia, Australia., Beilby J; Department of Diagnostic Genomics, PathWest Laboratory Medicine, Perth, Western Australia, Australia., Berarducci M; Health Education and Training Institute (HETI), NSW Health Service, Sydney, New South Wales, Australia., Berman Y; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia.; Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Boughtwood T; Australian Genomics, Parkville, Victoria, Australia.; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Cusack MB; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia., Fitzgerald V; Speciality Services and Technology Evaluation Unit, Strategic Reform and Planning Branch, NSW Ministry of Health, Sydney, New South Wales, Australia., Fletcher J; Department of Paediatrics, The Tweed Hospital, Tweed Heads, New South Wales, Australia., Freckmann ML; Department of Clinical Genetics, Royal North Shore Hospital, Sydney, New South Wales, Australia., Grainger N; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia., Kirk E; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Randwick Genomics Laboratory, NSW Health Pathology, Sydney, New South Wales, Australia., Lundie B; Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia., Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Pathology, University of Melbourne, Melbourne, Victoria, Australia., McGregor L; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia., Mowat D; Centre for Clinical Genetics, Sydney Children's Hospital-Randwick, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Parasivam G; NSW Health Centre for Genetics Education, Royal North Shore Hospital, Sydney, New South Wales, Australia., Tyrell V; Children's Cancer Institute. Randwick, Sydney, New South Wales, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Royal Hobart Hospital, Hobart, Tasmania, Australia.; School of Medicine, The University of Tasmania, Hobart, Tasmania, Australia., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., S L Ma A; Specialty of Genomic Medicine, University of Sydney, Sydney, New South Wales, Australia.; Department of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia.
Publikováno v:
Journal of paediatrics and child health [J Paediatr Child Health] 2021 Apr; Vol. 57 (4), pp. 477-483. Date of Electronic Publication: 2021 Feb 10.
Autor:
Lassmann T; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia. Timo.Lassmann@telethonkids.org.au., Francis RW; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia., Weeks A; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia., Tang D; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia., Jamieson SE; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia., Broley S; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia., Dreyer L; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Goldblatt J; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Groza T; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Kamien B; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Kiraly-Borri C; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., McKenzie F; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics, University of Western Australia, Perth, WA, Australia., Murphy L; Rare Voices Australia, Sydney, Australia., Pachter N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Pathak G; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Poulton C; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Samanek A; GaRDN Genetics and Rare Diseases Network, Booragoon, WA, Australia., Skoss R; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia., Slee J; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Townshend S; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Ward M; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia., Baynam GS; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics, University of Western Australia, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, WA, Australia., Blackwell JM; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia. Jenefer.Blackwell@telethonkids.org.au.
Publikováno v:
NPJ genomic medicine [NPJ Genom Med] 2020 Dec 10; Vol. 5 (1), pp. 54. Date of Electronic Publication: 2020 Dec 10.
Autor:
Baynam GS; Genetic Services of Western Australia and Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, WA., Wicking C; Rare Voices Australia, Brisbane, QLD., Bhattacharya K; Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network, Sydney, NSW.; University of Sydney, Sydney, NSW., Millis N; Rare Voices Australia, Brisbane, QLD.
Publikováno v:
The Medical journal of Australia [Med J Aust] 2020 Jul; Vol. 213 (2), pp. 94-94.e1. Date of Electronic Publication: 2020 Jun 22.
Autor:
Hudson M; Faculty of Māori and Indigenous Studies, University of Waikato, Hamilton, New Zealand. maui.hudson@waikato.ac.nz.; Genomics Aotearoa, University of Otago, Dunedin, New Zealand. maui.hudson@waikato.ac.nz., Garrison NA; Institute for Society and Genetics, University of California, Los Angeles, CA, USA., Sterling R; Faculty of Law, University of Waikato, Hamilton, New Zealand., Caron NR; Centre for Excellence in Indigenous Health, University of British Columbia, Vancouver, BC, Canada.; British Columbia Cancer, Michael Smith Genome Sciences Centre, Vancouver, BC, Canada., Fox K; Department of Global Health, University of California, San Diego, CA, USA., Yracheta J; Johns-Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.; Native BioData Consortium, Eagle Butte, SD, USA., Anderson J; Department of Anthropology, New York University, New York, NY, USA., Wilcox P; Genomics Aotearoa, University of Otago, Dunedin, New Zealand.; Department of Mathematics and Statistics, University of Otago, Dunedin, New Zealand., Arbour L; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Brown A; Aboriginal Health Equity, South Australian Medical and Health Research Institute, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Taualii M; Clinical Transformation, Hawaii Permanente Medical Group, Honolulu, HI, USA., Kukutai T; National Institute of Demographic and Economic Analysis, University of Waikato, Hamilton, New Zealand., Haring R; Center for Indigenous Cancer Research, Roswell Park Comprehensive Cancer Centre, Buffalo, NY, USA., Te Aika B; Genomics Aotearoa, University of Otago, Dunedin, New Zealand., Baynam GS; Faculty of Medicine and Health Sciences, University of Western Australia, Perth, WA, Australia., Dearden PK; Genomics Aotearoa, University of Otago, Dunedin, New Zealand.; Biochemistry Department, University of Otago, Dunedin, New Zealand., Chagné D; The New Zealand Institute for Plant and Food Research Limited (Plant & Food Research), Palmerston North, New Zealand.; Genomics Aotearoa, Palmerston North, New Zealand., Malhi RS; Department of Anthropology, Carl R. Woese Institute for Genomic Biology, University of Illinois, Urbana, IL, USA., Garba I; Native Nations Institute at the Udall Center for Studies in Public Policy, University of Arizona, Tucson, AZ, USA., Tiffin N; Computational Biology Division, University of Cape Town, Cape Town, South Africa.; Wellcome Centre for Infectious Disease Research in Africa, University of Cape Town, Cape Town, South Africa.; Centre for Infectious Disease Epidemiology Research, School of Public Health and Family Medicine, University of Cape Town, Cape Town, South Africa., Bolnick D; Department of Anthropology, University of Connecticut, Storrs, CT, USA.; Institute for Systems Genomics, University of Connecticut, Storrs, CT, USA., Stott M; School of Biological Sciences, University of Canterbury, Christchurch, New Zealand., Rolleston AK; Manawaora, The Centre for Health, Tauranga, New Zealand., Ballantyne LL; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada., Lovett R; Research School of Population Health, Australian National University, Canberra, ACT, Australia., David-Chavez D; Native Nations Institute at the Udall Center for Studies in Public Policy, University of Arizona, Tucson, AZ, USA.; Colorado State University, Fort Collins, CO, USA., Martinez A; Native Nations Institute at the Udall Center for Studies in Public Policy, University of Arizona, Tucson, AZ, USA., Sporle A; Department of Statistics, University of Auckland, Auckland, New Zealand., Walter M; School of Social Science, University of Tasmania, Hobart, TAS, Australia.; Maiam nayri Wingara (Australian Indigenous Data Sovereignty Collective), Hobart, TAS, Australia.; Global Indigenous Data Alliance, Oñati, Spain., Reading J; Faculty of Health Sciences, Simon Fraser University, Burnaby, BC, Canada., Carroll SR; Native Nations Institute at the Udall Center for Studies in Public Policy, University of Arizona, Tucson, AZ, USA.; Mel and Enid Zuckerman College of Public Health, University of Arizona, Tucson, AZ, USA.
Publikováno v:
Nature reviews. Genetics [Nat Rev Genet] 2020 Jun; Vol. 21 (6), pp. 377-384. Date of Electronic Publication: 2020 Apr 06.
Autor:
Baynam GS; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Medicine, Division of Pediatrics; and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia., Groft S; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA., van der Westhuizen FH; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa. Francois.vanderWesthuizen@nwu.ac.za., Gassman SD; Corporate Affairs Rare Disease, Pfizer USA, New York, NY, USA., du Plessis K; Rare Diseases South Africa, Johannesburg, South Africa., Coles EP; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Selebatso E; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana., Selebatso M; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana., Gaobinelwe B; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana., Selebatso T; Botswana Organization for Rare Diseases (BORDIS), Gaborone, Botswana.; Botswana University of Agriculture and Natural Resources, Gaborone, Botswana., Joel D; 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., Llera VA; GEISER Foundation, Mendoza, Argentina., Vorster BC; Laboratory for Inborn Errors of Metabolism (PLIEM), Center for Human Metabolomics (CHM) at the Potchefstroom Campus of the North-West University, Potchefstroom, South Africa., Wuebbels B; Professional Patient Advocates in the Life Sciences (PPALS), Danbury, CT, USA., Djoudalbaye B; Africa Centres for Disease Control and Prevention, African Union Commission, Addis Ababa, Ethiopia., Austin CP; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA., Kumuthini J; Centre for Proteomic & Genomic Research, Observatory, Cape Town, South Africa., Forman J; Unaffiliated rare-disease advocate, Wellington, New Zealand., Kaufmann P; AveXis, San Diego, CA, USA., Chipeta J; University of Zambia School of Medicine, Department of Pediatrics and Child Health, University Teaching Hospitals-Lusaka Children Hospital, Lusaka, Zambia., Gavhed D; 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., Larsson A; Regional Cancer Center Uppsala Örebro, Uppsala, Sweden., Stojiljkovic M; Laboratory for Molecular Biomedicine, Institute of Molecular Genetics and Genetic Engineering (IMGGE), University of Belgrade, Belgrade, Serbia., Nordgren A; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolina Institutet, Stockholm, Sweden., Roldan EJA; Innovation Division, GADOR SA, Buenos Aires, Argentina., Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy., Wong-Rieger D; Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.; Rare Diseases International, Geneva, Switzerland., Nowak K; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Bilkey GA; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Easteal S; John Curtin School of Medical Research, Australian National University, Canberra, Australian Capital Territory, Australia., Bowdin S; Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, Cambridge, UK., Reichardt JKV; Australian Institute of Tropical Health and Medicine (AITHM), James Cook University, Smithfield, Queensland, Australia., Beltran S; Centro Nacional de Análisis Genómico, Centre for Genomic Regulation (CNAG-CRG), Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain., Kosaki K; Center for Medical Genetics, Keio University, Tokyo, Japan., van Karnebeek CDM; Departments of Pediatrics and Clinical Genetics, Emma Children's Hospital, Amsterdam University Medical Centres, University of Amsterdam, Amsterdam, the Netherlands.; Department of Pediatrics, Radboud University Medical Centre, Nijmegen, the Netherlands., Gong M; National Rare Diseases Registry System of China (NRDRS), Beijing, China., Shuyang Z; Peking Union Medical College Hospital, Beijing, China., Mehrian-Shai R; Pediatric Hemato-Oncology, Sheba Medical Center, Ramat Gan, Israel., Adams DR; Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA., Puri RD; Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, India., Zhang F; SeekIn. Inc., Yantian, Shenzhen, Guangdong, China., Pachter N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Medicine, Division of Medicine and Pharmacology, University of Western Australia, Perth, Western Australia, Australia.; School of Medicine, Curtin University, Perth, Western Australia, Australia., Muenke M; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Nellaker C; 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., Gahl WA; National Human Genome Research Institute and NIH Undiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA., Cederroth H; Wilhelm Foundation, Sandbacken, Brottby, Sweden., Broley S; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, Western Australia, Australia., Schoonen M; Mitochondria Research Laboratory, Human Metabolomics, North-West University, Potchefstroom, South Africa., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Posada M; Instituto de Investigación en Enfermedades Raras & CIBERER, Instituto de Salud Carlos III, Madrid, Spain.
Publikováno v:
Nature genetics [Nat Genet] 2020 Jan; Vol. 52 (1), pp. 21-26.
Autor:
Hansen M; Telethon Kids Institute, Perth, WA michele.hansen@telethonkids.org.au., Armstrong PK; Communicable Disease Control Directorate, WA Department of Health, Perth, WA., Bower C; Telethon Kids Institute, Perth, WA., Baynam GS; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA.
Publikováno v:
The Medical journal of Australia [Med J Aust] 2017 May 01; Vol. 206 (8), pp. 351-356.