부산대학교 도서관

Mascalzoni, Deborah; Dove, Edward S; Rubinstein, Yaffa; Dawkins, Hugh J S; Kole, Anna; McCormack, Pauline; Woods, Simon; Riess, Olaf; Schaefer, Franz; Lochmüller, Hanns; Knoppers, Bartha M; Hansson, Mats

European Journal of Human Genetics. Jun2015, Vol. 23 Issue 6, p721-728. 8p.

Dawkins, Hugh J S; Molster, Caron M; Youngs, Leanne M; O'Leary, Peter C

Orphanet Journal of Rare Diseases. 2011, Vol. 6 Issue 1, p57-59. 3p.

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.

Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Nellåker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Institute for Biomedical Engineering, University of Oxford, Oxford, United Kingdom.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Baynam G; Western Australian Register of Developmental Anomalies, and Genetic Services of Western Australia, King Edward Memorial, Subiaco, WA, Australia.; Telethon Kids Institute and School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Spatial Sciences, Science and Engineering, Curtin University, Perth, WA, Australia.; Bernier RA; Department of Psychiatry & Behavioral Science, University of Washington School of Medicine, Seattle, WA, United States.; Bernier FPJ; Alberta Children's Hospital Research Institute, Calgary, AB, Canada.; Boulanger V; National Organization for Rare Disorders, Danbury, CT, United States.; Brudno M; Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.; Cogné B; CHU Nantes, Service de Génétique Médicale, Nantes, France.; Dawkins HJS; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health Government of Western Australia, Perth, WA, Australia.; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University.; Centre for Population Health Research, Curtin University of Technology, Perth, WA, Australia.; deVries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Douzgou S; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom.; Dudding-Byth T; Hunter Genetics, Waratah, NSW, Australia.; Eichler EE; Department of Genome Science, University of Washington School of Medicine, Seattle, WA, United States.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, United States.; Ferlaino M; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, United Kingdom.; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Fieggen K; Division of Human Genetics, Level 3, Wernher and Beit North, Institute of Infectious Disease and Molecular Medicine, Faculty of Health Sciences, University of Cape Town, Observatory, South Africa.; Firth HV; Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom.; FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.; Gration D; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.; Groza T; The Garvan Institute, Sydney, NSW, Australia.; Haendel M; Oregon Health & Science University, Portland, OR, United States.; Hallowell N; Big Data Institute, University of Oxford, Oxford, United Kingdom.; Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, United Kingdom.; Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, United Kingdom.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, United States.; Hehir-Kwa J; Princess Máxima Center for Pediatric Oncology, Utrecht, Netherlands.; Hitz MP; Department of Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein-Campus Kiel, Kiel, Germany.; Hughes M; Department of Clinical Neurosciences, Western General Hospital, Edinburgh, United Kingdom.; Kini U; Oxford Centre for Genomic Medicine, Oxford, United Kingdom.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.; Krawitz P; Institut für Genomische Statistik und Bioinformatik, Universitätsklinikum Bonn, Rheinische-Friedrich-Wilhelms-Universität, Bonn, Germany.; Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France.; Lees M; Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.; Lyon GJ; George A. Jervis Clinic and Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, NY, United States.; Lyonnet S; Imagine Institute, Paris, France.; Marcadier JL; Alberta Children's Hospital Research Institute, Calgary, AB, Canada.; Meyn S; Department of Computer Science, University of Toronto and the Hospital for Sick Children, Toronto, Canada.; Moslerová V; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia.; Politei JM; Laboratorio Chamoles, Errores Congénitos del Metabolismo, Buenos Aires, Argentina.; Poulton CC; Department of Paediatrics and Neonates, Fiona Stanley Hospital, Perth, WA, Australia.; Raymond FL; CIMR (Wellcome Trust/MRC Building), Cambridge, United Kingdom.; Reijnders MRF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, Netherlands.; Robinson PN; The Jackson Laboratory, Farmington, CT, United States.; Romano C; Oasi Research Institute-IRCCS, Troina, Italy.; Rose CM; Victorian Clinical Genetics Service and Murdoch Childrens Research Institute, The Royal Children's Hospital, Parkville, VIC, Australia.; Sainsbury DCG; Northern & Yorkshire Cleft Lip and Palate Service, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom.; Schofield L; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.; Turnovec M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and University Hospital, Prague, Czechia.; Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, University of Leuven, Leuven, Belgium.; Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, Oxford, United Kingdom.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Cutillo CM; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Lau LPL; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Rath A; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France.; Julkowska D; Agence Nationale de la Recherche (ANR), Paris, France.; Thomson D; Shire, Lexington, Massachusetts, USA, (until April 2017).; Terry SF; Genetic Alliance, Washington DC, USA.; de Montleau B; EURORDIS-Rare Diseases Europe, Paris, France.; Ardigò D; Corporate Drug Development, Chiesi Farmaceutici S.p.A., Italy.; Hivert V; EURORDIS-Rare Diseases Europe, Paris, France.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia.; Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Suematsu M; Japan Agency for Medical Research and Development (AMED), Tokyo, Japan.; Incerti C; Sanofi Genzyme, Cambridge, Massachusetts, USA.; Draghia-Akli R; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017).; Norstedt I; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Wang L; National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Draghia-Akli R; Directorate General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium, (until April 2017).; Merck & Co. Inc., Upper Gwynedd, Pennsylvania, USA, (from June 2017).; Lasko P; Department of Biology, McGill University, Montréal, Canada.; Lau LPL; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Jonker AH; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Cutillo CM; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Rath A; IRDiRC Scientific Secretariat, Inserm-US14, Rare Diseases Platform, Paris, France.; Orphanet, Inserm-US14, Rare Diseases Platform, Paris, France.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Western Australian Register of Developmental Anomalies, Perth, Australia.; Lochmüller H; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Kaufmann P; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.; Le Cam Y; EURORDIS-Rare Diseases Europe, Paris, France.; Hivert V; EURORDIS-Rare Diseases Europe, Paris, France.; Austin CP; National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

Publisher: WileyBlackwell Pub Country of Publication: United States NLM ID: 101474067 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1752-8062 (Electronic) Linking ISSN: 17528054 NLM ISO Abbreviation: Clin Transl Sci Subsets: MEDLINE

Köhler S; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com.; Vasilevsky NA; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; Engelstad M; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; Foster E; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; McMurry J; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; Aymé S; Institut du Cerveau et de la Moelle épinière-ICM, CNRS UMR 7225-Inserm U 1127-UPMC-P6 UMR S 1127, Hôpital Pitié-Salpêtrière, 47, bd de l'Hôpital, 75013 Paris, France.; Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital Department of Health, Government of Western Australia, Perth, WA 6008, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6008, Australia.; Bello SM; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.; Boerkoel CF; Imagenetics Research, Sanford Health, PO Box 5039, Route 5001, Sioux Falls, SD 57117-5039, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Brudno M; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.; Buske OJ; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.; Chinnery PF; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Cipriani V; UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK.; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; Connell LE; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA.; Dawkins HJ; Office of Population Health Genomics, Public Health Division, Health Department of Western Australia, 189 Royal Street, Perth, WA, 6004 Australia.; DeMare LE; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA.; Devereau AD; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK.; de Vries BB; Department of Human Genetics, Radboud University, University Medical Centre, Nijmegen, The Netherlands.; Firth HV; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.; Greene D; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.; Hum C; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1H3, Canada.; Jähn JA; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.; James R; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.; Krause R; LuxembourgCentre for Systems Biomedicine, University of Luxembourg, 7, avenue des Hauts-Fourneaux, L-4362 Esch-sur-Alzette, Luxembourg.; F Laulederkind SJ; Human and Molecular Genetics Center, Medical College of Wisconsin, USA.; Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.; Lyon GJ; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, New York, NY 11797, USA.; Ogishima S; Dept of Bioclinical Informatics, Tohoku Medical Megabank Organization, Tohoku University, Tohoku Medical Megabank Organization Bldg 7F room #741,736, Seiryo 2-1, Aoba-ku, Sendai Miyagi 980-8573 Japan.; Olry A; Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.; Ouwehand WH; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.; Pontikos N; UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK.; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; Rath A; Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.; Schaefer F; Division of Pediatric Nephrology and KFH Children's Kidney Center, Center for Pediatrics and Adolescent Medicine, 69120 Heidelberg, Germany.; Scott RH; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK.; Segal M; SimulConsult Inc., 27 Crafts Road, Chestnut Hill, MA 02467, USA.; Sergouniotis PI; Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK.; Sever R; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA.; Smith CL; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.; Straub V; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.; Thompson R; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.; Turner C; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.; Turro E; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.; Veltman MW; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Vulliamy T; Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK.; Yu J; Nuffield Department of Clinical Neurosciences, University of Oxford, Level 6, West Wing, John Radcliffe Hospital, Oxford OX3 9DU, UK.; von Ziegenweidt J; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.; Zankl A; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Australia.; Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Australia.; Züchner S; JD McDonald Department of Human Genetics and Hussman Institute for Human Genomics, University of Miami, Miami, FL, USA.; Zemojtel T; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.; Jacobsen JO; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK.; Groza T; Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia.; St Vincent's Clinical School, Faculty of Medicine, UNSW Australia.; Smedley D; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK.; Mungall CJ; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, 1 Cyclotron Road, Berkeley, CA 94720, USA.; Haendel M; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Mahede T; Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia. trinity.mahede@health.wa.gov.au.; Davis G; Data Linkage Branch, Department of Health Western Australia, Perth, Australia. geoff.davis@health.wa.gov.au.; Rutkay A; Data Linkage Branch, Department of Health Western Australia, Perth, Australia. April.rutkay@health.wa.gov.au.; Baxendale S; Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia. genomics@health.wa.gov.au.; Sun W; Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia. wenxing.sun@health.wa.gov.au.; Dawkins HJ; Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia. hugh.dawkins@health.wa.gov.au.; Centre for Comparative Genomics, Murdoch University, Perth, Australia. hugh.dawkins@health.wa.gov.au.; Centre for Population Health Research, Curtin University of Technology, Perth, Australia. hugh.dawkins@health.wa.gov.au.; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia. hugh.dawkins@health.wa.gov.au.; Molster C; Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia. caron.molster@health.wa.gov.au.; Graham CE; Office of Population Health Genomics, Department of Health Western Australia, Perth, Australia. caroline.graham@health.wa.gov.au.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Easteal S; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia. Electronic address: simon.easteal@anu.edu.au.; Arkell RM; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.; Balboa RF; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.; Bellingham SA; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.; Brown AD; Aboriginal Health Equity, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia; Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA 5005, Australia.; Calma T; Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.; Cook MC; Department of Immunology, Canberra Hospital, Canberra, ACT 2606, Australia.; Davis M; UNSW Law, University of New South Wales, Sydney, NSW 2052, Australia.; Dawkins HJS; HBF Health Limited, Perth, WA 6000, Australia; School of Medicine, The University of Notre Dame Australia, Sydney, NSW 2010, Australia; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University, Murdoch, WA 6150, Australia; Division of Genetics, School of Biomedical Sciences, University of Western Australia, Nedlands, WA 6008, Australia; Centre for Population Health Research, Curtin University of Technology, Bentley, WA 6102, Australia.; Dinger ME; School of Biotechnology and Biomolecular Sciences, University of New South Wales, Sydney, NSW 2052, Australia.; Dobbie MS; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.; Farlow A; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.; Gwynne KG; Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia; Faculty of Medicine and Health Sciences, Macquarie University, Sydney, NSW 2113, Australia.; Hermes A; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.; Hoy WE; Faculty of Medicine, University of Queensland, Brisbane, QLD 4072, Australia.; Jenkins MR; Immunology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC 3052, Australia; La Trobe Institute of Molecular Science, La Trobe University, Bundoora, VIC 3086, Australia.; Jiang SH; Department of Immunology, Canberra Hospital, Canberra, ACT 2606, Australia.; Kaplan W; Informatics, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.; Leslie S; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.; Llamas B; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Centre of Excellence in Australian Biodiversity and Heritage, School of Biological Sciences, The Environment Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Mann GJ; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.; McMorran BJ; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.; McWhirter RE; Centre for Law and Genetics, Faculty of Law, University of Tasmania, Hobart, TAS 7001, Australia.; Meldrum CJ; NSW Health Pathology, Sydney, NSW 2065, Australia.; Nagaraj SH; Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD 4000, Australia.; Newman SJ; Biological Data Science Institute, Australian National University, Canberra, ACT 2600, Australia.; Nunn JS; Public Health, La Trobe University, Melbourne, VIC 3086, Australia.; Ormond-Parker L; Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC 3010, Australia.; Orr NJ; Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.; Paliwal D; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.; Patel HR; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia.; Pearson G; Aboriginal Health, Telethon Kids Institute, Perth, WA 6009, Australia.; Pratt GR; Aboriginal and Torres Strait Islander Health, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia.; Rambaldini B; Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.; Russell LW; Centre of Excellence in Australian Biodiversity and Heritage, Monash Indigenous Studies Centre, Monash University, Melbourne, VIC 3800, Australia.; Savarirayan R; Victorian Clinical Genetic Services, Murdoch Children's Research Institute, and University of Melbourne, Parkville, VIC 3052, Australia.; Silcocks M; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; Melbourne Integrative Genomics, University of Melbourne, Melbourne, VIC 3010, Australia.; Skinner JC; Poche Centre for Indigenous Health, University of Sydney, Sydney, NSW 2006, Australia.; Souilmi Y; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT 2600, Australia; School of Biological Sciences, The Environment Institute, University of Adelaide, Adelaide, SA 5005, Australia.; Vinuesa CG; John Curtin School of Medical Research, Australian National University, Canberra, ACT 2600, Australia.; Baynam G; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; The Western Australian Register of Developmental Anomalies, Department of Health, Government of Western Australia, Perth, WA 6004, Australia; School of Medicine, Division of Paediatrics and Telethon Kids Institute, University of Western Australia, Perth, WA 6009, Australia. Electronic address: gareth.baynam@health.wa.gov.au.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Burns BL; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Bilkey GA; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Coles EP; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Bowman FL; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Beilby JP; PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.; Faculty of Health and Medical Sciences, School of Biomedical Sciences, The University of Western Australia, Crawley, WA, Australia.; Pachter NS; Genetic Services of Western Australia, King Edward Memorial Hospital, Department of Health, Government of Western Australia, Subiaco, WA, Australia.; Faculty of Health and Medical Sciences, School of Medicine, The University of Western Australia, Crawley, WA, Australia.; Baynam G; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Genetic Services of Western Australia, King Edward Memorial Hospital, Department of Health, Government of Western Australia, Subiaco, WA, Australia.; Western Australian Register of Developmental Anomalies, Department of Health, King Edward Memorial Hospital, Government of Western Australia, Subiaco, WA, Australia.; Dawkins HJS; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Faculty of Health and Medical Sciences, School of Biomedical Sciences, The University of Western Australia, Crawley, WA, Australia.; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University, Murdoch, WA, Australia.; School of Public Health, Curtin University of Technology, Bentley, WA, Australia.; Weeramanthri TS; Office of the Chief Health Officer, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Faculty of Health and Medical Sciences, School of Population and Global Health, The University of Western Australia, Crawley, WA, Australia.; Nowak KJ; Office of Population Health Genomics, Public and Aboriginal Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Faculty of Health and Medical Sciences, School of Biomedical Sciences, The University of Western Australia, Crawley, WA, Australia.; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.

Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2565 (Print) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: PubMed not MEDLINE

Molster CM; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; Bowman FL; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; Bilkey GA; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; Office of the Chief Health Officer, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; Cho AS; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; Burns BL; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; Nowak KJ; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; School of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Western Australia, Crawley, WA, Australia.; Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, WA, Australia.; Dawkins HJS; Office of Population Health Genomics, Public and Aboriginal Health Division, Western Australian Department of Health, East Perth, WA, Australia.; School of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Western Australia, Crawley, WA, Australia.; Sir Walter Murdoch School of Policy and International Affairs, Murdoch University, Murdoch, WA, Australia.; School of Public Health, Curtin University of Technology, Bentley, WA, Australia.

Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2565 (Print) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: PubMed not MEDLINE

Weeramanthri TS; Public and Aboriginal Health Division, Western Australian Department of Health, Government of Western Australia, Perth, WA, Australia.; Dawkins HJS; Public and Aboriginal Health Division, Western Australian Department of Health, Government of Western Australia, Perth, WA, Australia.; Baynam G; Genetic Services of Western Australia, Subiaco, WA, Australia.; Bellgard M; eResearch Directorate, Queensland University of Technology, Brisbane, QLD, Australia.; Gudes O; University of New South Wales, Sydney, NSW, Australia.; Semmens JB; Curtin University, Perth, WA, Australia.

Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2565 (Print) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: PubMed not MEDLINE

Vasilevsky NA; Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA.; Foster ED; School of Dentistry, Oregon Health & Science University, Portland, OR, USA.; Engelstad ME; School of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA.; Carmody L; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Might M; Undiagnosed Disease Network, Boston, MA, USA.; Chambers C; School of Medicine, Vanderbilt University, Nashville, TN, USA.; Dawkins HJS; Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; Lewis J; National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.; Della Rocca MG; National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.; Snyder M; National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center, Bethesda, MD, USA.; Boerkoel CF; Sanford Health Imagenetics, Sioux Falls, SD, USA.; Rath A; Orphanet, Paris, France.; Terry SF; Genetic Alliance, Washington, DC, USA.; Kent A; Genetic Alliance UK, London, UK.; Searle B; Unique, Oxted, UK.; Baynam G; Medical School, University of Western Australia, Perth, Western Australia, Australia.; Jones E; Inspire, Arlington, VA, USA.; Gavin P; National Organization for Rare Disorders, Quincy, MA, USA.; Bamshad M; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Chong J; Department of Pediatrics, University of Washington, Seattle, WA, USA.; Groza T; Kinghorn Centre for Clinical Genomics, Garvan Institute, Sydney, New South Wales, Australia.; Adams D; Undiagnosed Disease Program, Bethesda, MD, USA.; Resnick AC; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Heath AP; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Mungall C; Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rageth K; Sanford Health Imagenetics, Sioux Falls, SD, USA.; Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Shefchek K; Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.; McMurry JA; Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA.; Robinson PN; Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Köhler S; NeuroCure Cluster of Excellence, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Haendel MA; Oregon Clinical & Translational Research Institute, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA. haendel@ohsu.edu.; Linus Pauling Institute, Oregon State University, Corvallis, OR, USA. haendel@ohsu.edu.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Austin CP; National Centre for Advancing Translational Sciences, Bethesda, Maryland, USA.; Dawkins HJS; Office of Population Health Genomics, Government of Western Australia, Perth, Australia.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Walker CE; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Mahede T; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Davis G; Data Linkage Branch, Purchasing and System Performance, Department of Health, Government of Western Australia, Perth, Australia.; Miller LJ; Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Girschik J; Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Brameld K; Centre for Population Health Research, Curtin University, Perth, Australia.; Sun W; Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Rath A; INSERM, US14, Paris, France.; Aymé S; INSERM, US14, Paris, France.; Zubrick SR; Faculty of Education, University of Western Australia, Perth, Australia.; Telethon Kids Institute, Perth, Australia.; Baynam GS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Telethon Kids Institute, Perth, Australia.; Genetic Services WA, King Edward Memorial Hospital, Perth, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.; Institute of Immunology and Infectious Diseases, Murdoch University, Perth, Australia.; Molster C; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.; Centre for Population Health Research, Curtin University, Perth, Australia.; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.; Centre for Comparative Genomics, Murdoch University, Perth, Australia.; Weeramanthri TS; Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Baynam G; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Western Australian Register of Developmental Anomalies, Perth, WA, Australia.; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia.; Telethon Kids Institute, Perth, WA, Australia.; Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, WA, Australia.; Bauskis A; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Pachter N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.; Schofield L; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.; Verhoef H; Cooperative Research Centre for Spatial Information, Perth, WA, Australia.; Palmer RL; School of Spatial Sciences, Curtin University, Perth, WA, Australia.; Kung S; School of Spatial Sciences, Curtin University, Perth, WA, Australia.; Helmholz P; School of Spatial Sciences, Curtin University, Perth, WA, Australia.; Ridout M; School of Spatial Sciences, Curtin University, Perth, WA, Australia.; Walker CE; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Hawkins A; 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.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Weeramanthri TS; Public Health Division, 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.; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.; Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia.; Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, WA, Australia.; Molster CM; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2565 (Print) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: PubMed not MEDLINE

Molster CM; Office of Population Health Genomics, Public Health Division, Department of Health Western Australia , Perth, WA , Australia.; Lister K; Office of Population Health Genomics, Public Health Division, Department of Health Western Australia , Perth, WA , Australia.; Metternick-Jones S; Sir Charles Gairdner Hospital , Perth, WA , Australia.; Baynam G; Office of Population Health Genomics, Public Health Division, Department of Health Western Australia, Perth, WA, Australia; Genetic Services WA, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Perth, WA, Australia; Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, WA, Australia.; Clarke AJ; Division of Cancer and Genetics, School of Medicine, Cardiff University , Cardiff , UK.; Straub V; Institute of Human Genetics, University of Newcastle upon Tyne , Newcastle upon Tyne , UK.; Dawkins HJ; Office of Population Health Genomics, Public Health Division, Department of Health Western Australia, Perth, WA, Australia; Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia; Centre for Population Health Research, Curtin University, Perth, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.; Laing N; Centre for Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Perth, WA, Australia; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Department of Health Western Australia, Perth, WA, Australia.

Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2565 (Print) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: PubMed not MEDLINE

Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia. Gareth.Baynam@health.wa.gov.au.; Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia. Gareth.Baynam@health.wa.gov.au.; Undiagnosed Diseases Program, Subiaco, WA, Australia. Gareth.Baynam@health.wa.gov.au.; Molster C; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Bauskis A; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.; Kowal E; Alfred Deakin Institute for Citizenship and Globalisation, Deakin University, Melbourne, Australia.; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia.; Savarirayan R; Victorian Clinical Genetics Services, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, 3010, Australia.; Northern Territory Clinical Genetics Services, NT, Darwin, 9000, Australia.; Kelaher M; Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, 3010, Australia.; Easteal S; John Curtin School of Medical Research, Australian National University, Canberra, Australia.; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia.; Massey L; John Curtin School of Medical Research, Australian National University, Canberra, Australia.; National Centre for Indigenous Genomics, Australian National University, Canberra, ACT, Australia.; Garvey G; Wellbeing and Preventable Chronic Disease Division, Menzies School of Health Research, Charles Darwin University, Darwin, NT, 0811, Australia.; Goldblatt J; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Pachter N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.; Weeramanthri TS; Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia.; Dawkins HJS; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, WA, Australia.

Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

Baynam G; Genetic Services of Western Australia, King Edward Memorial Hospital, Subiaco, WA, Australia.; Western Australian Register of Developmental Anomalies, Subiaco, WA, Australia.; Undiagnosed Diseases Program, Subiaco, WA, Australia.; Bowman F; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.; Lister K; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.; Walker CE; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.; Pachter N; Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; School of Medicine and Pharmacology, University of Western Australia, Perth, WA, Australia.; Goldblatt J; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, ON K1H 8L1, Canada.; Gahl WA; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892, USA.; Kosaki K; Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan.; Adachi T; Japan Agency for Medical Research and Development, Tokyo, Japan.; Ishii K; Japan Agency for Medical Research and Development, Tokyo, Japan.; Mahede T; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.; McKenzie F; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia.; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Townshend S; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Slee J; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Kiraly-Borri C; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Vasudevan A; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Hawkins A; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Broley S; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Schofield L; Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, WA, Australia.; Verhoef H; Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, Western Australia, Australia.; Cooperative Research Centre for Spatial Information, Melbourne, Western Australia, Australia.; Groza T; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.; Zankl A; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, Australia.; Academic Department of Medical Genetics, Sydney Childrens Hospitals Network (Westmead), Westmead, Australia.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, 06032, USA.; Haendel M; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, 97239, USA.; Brudno M; Department of Computer Science, University of Toronto, Toronto, ON, M5S 2E4, Canada.; Centre for Computational Medicine and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, ON, M5G 1L7, Canada.; Mattick JS; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.; Dinger ME; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.; Roscioli T; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.; Cowley MJ; Kinghorn Centre for Clinical Genomics, Garvan Institute for Medical Research, Darlinghurst, NSW, 2010, Australia.; St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales (UNSW), Sydney, NSW, 2052, Australia.; Olry A; INSERM, US14, Paris, France.; Hanauer M; INSERM, US14, Paris, France.; Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.; Taruscio D; Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Viale Regina Elena, 299, 00161, Rome, Italy.; Posada de la Paz M; RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain.; Lochmüller H; John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK.; Bushby K; John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK.; Thompson R; John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK.; Hedley V; John Walton Muscular Dystrophy Research Centre, Newcastle University, Institute of Genetic Medicine, Newcastle upon Tyne, UK.; Lasko P; Department of Biology, McGill University, Montreal, QC, Canada.; Mina K; Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia.; Beilby J; Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; Tifft C; Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Rockville, MD, USA.; Davis M; Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; Laing NG; Diagnostic Genomics, PathWest, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Perth, Western Australia, Australia.; Julkowska D; Agence Nationale de la Recherche (ANR), Paris, France.; Le Cam Y; European Organisation for Rare Diseases (EURORDIS), Paris, France.; Terry SF; Genetic Alliance, Washington, DC, USA.; Kaufmann P; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-1851, USA.; Eerola I; Directorate Health, Directorate-General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium.; Norstedt I; Directorate Health, Directorate-General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium.; Rath A; INSERM, US14, Paris, France.; Suematsu M; Japan Agency for Medical Research and Development, Tokyo, Japan.; Groft SC; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-1851, USA.; Austin CP; National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, 20892-1851, USA.; Draghia-Akli R; Directorate Health, Directorate-General for Research and Innovation (DG RTD), European Commission, Brussels, Belgium.; Weeramanthri TS; Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia.; Public Health Division, Department of Health, Government of Western Australia, Perth, Western Australia, Australia.; Molster C; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, WA, Australia.; Dawkins HJS; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.; Sir Walter Murdoch School of Public Health and International Affairs, Murdoch University, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.; Department of Health, Government of Western Australia, Office of Population Health Genomics, Public Health Division, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.; Centre for Population Health Research, Curtin Health Innovation Research Institute, Curtin University of Technology, Perth, Western Australia, Australia. hugh.dawkins@health.wa.gov.au.

Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0121103 Publication Model: Print Cited Medium: Print ISSN: 0065-2598 (Print) Linking ISSN: 00652598 NLM ISO Abbreviation: Adv Exp Med Biol Subsets: MEDLINE

Metternick-Jones SC; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia , Perth, WA , Australia.; Lister KJ; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia , Perth, WA , Australia.; Dawkins HJ; Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia , Perth, WA , Australia.; White CA; School of Medicine, University of Tasmania , Hobart, TAS , Australia.; Weeramanthri TS; Public Health Division, Department of Health, Government of Western Australia , Perth, WA , Australia.

Publisher: Frontiers Editorial Office Country of Publication: Switzerland NLM ID: 101616579 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2565 (Print) Linking ISSN: 22962565 NLM ISO Abbreviation: Front Public Health Subsets: PubMed not MEDLINE