Zobrazeno 1 - 10
of 184
pro vyhledávání: '"Szot JO"'
Autor:
Szot JO; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Cuny H; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia., Martin EM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Sheng DZ; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Iyer K; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Portelli S; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Nguyen V; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Gereis JM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Alankarage D; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Chitayat D; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and.; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Chong K; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada., Wentzensen IM; GeneDx, Gaithersburg, Maryland, USA., Vincent-Delormé C; Clinique de Génétique 'Guy Fontaine,' Hôpital Jeanne de Flandre, Lille, France., Lermine A; Laboratoire de Biologie Médicale Multisites SeqOIA, FMG2025, Paris, France., Burkitt-Wright E; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Ji W; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., Jeffries L; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., Pais LS; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Pitt J; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Metabolic Laboratory, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Wise CA; Department of Diagnostic Genomics, PathWest Laboratory Medicine Western Australia, Nedlands, Perth, Western Australia, Australia., Wright H; General Paediatric Department, Perth Children's Hospital, Perth, Western Australia, Australia.; Rural Clinical School, University of Western Australia, Perth, Western Australia, Australia., Andrews ID; Pinnacle Dermatology, Scottsdale, Arizona, USA., Pruniski B; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Grebe TA; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Corsten-Janssen N; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands., Bouman K; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, Netherlands., Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia., Prakash S; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Keren B; Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique - Hôpitaux de Paris, Sorbonne Université, Paris, France., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia., Hunter MF; Monash Genetics, Monash Health, Clayton, Victoria, Australia.; Department of Paediatrics, Monash University, Clayton, Victoria, Australia., Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia., Lakhani SA; Yale University School of Medicine, Pediatric Genomics Discovery Program, New Haven, Connecticut, USA., McDermott JH; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom.; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, United Kingdom., Ascher DB; School of Chemistry and Molecular Biosciences, University of Queensland, Brisbane, Queensland, Australia.; Computational Biology and Clinical Informatics, Baker Heart and Diabetes Institute, Melbourne, Victoria, Australia., Chapman G; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia., Bozon K; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia., Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, Sydney, New South Wales, Australia.; Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Feb 15; Vol. 134 (4). Date of Electronic Publication: 2024 Feb 15.
Autor:
Dunwoodie SL; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia., Bozon K; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia., Szot JO; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia., Cuny H; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.
Publikováno v:
Antioxidants & redox signaling [Antioxid Redox Signal] 2023 Dec; Vol. 39 (16-18), pp. 1108-1132. Date of Electronic Publication: 2023 Jul 28.
Autor:
Yang A; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.)., Alankarage D; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.)., Cuny H; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.)., Ip EKK; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.)., Almog M; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.)., Lu J; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.).; UNSW Sydney, Kensington, Australia (E.K.K.I., J.L., A.E., D.T.H., S.L.D., E.G.)., Das D; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.)., Enriquez A; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.).; UNSW Sydney, Kensington, Australia (E.K.K.I., J.L., A.E., D.T.H., S.L.D., E.G.)., Szot JO; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.)., Humphreys DT; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.).; UNSW Sydney, Kensington, Australia (E.K.K.I., J.L., A.E., D.T.H., S.L.D., E.G.)., Blue GM; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.).; Heart Centre for Children, The Children's Hospital at Westmead, Australia (G.M.B.).; Sydney Medical School, The University of Sydney, Australia (G.M.B.)., Ho JWK; School of Biomedical Sciences, University of Hong Kong (J.W.K.H.).; Laboratory for Data Discovery for Health (D24H), Hong Kong Science Park (J.W.K.H.)., Winlaw DS; Heart Institute, Cincinnati Children's Hospital Medical Center, OH (D.S.W.)., Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.).; UNSW Sydney, Kensington, Australia (E.K.K.I., J.L., A.E., D.T.H., S.L.D., E.G.)., Giannoulatou E; Victor Chang Cardiac Research Institute, Darlinghurst, Australia (A.Y., D.A., H.C., E.K.K.I., M.A., J.L., D.D., A.E., J.O.S., D.T.H., G.M.B., S.L.D., E.G.).; UNSW Sydney, Kensington, Australia (E.K.K.I., J.L., A.E., D.T.H., S.L.D., E.G.).
Publikováno v:
Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2022 Jun; Vol. 15 (3), pp. e003539. Date of Electronic Publication: 2022 May 06.
Autor:
Alankarage D; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Ip E; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Szot JO; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Munro J; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Blue GM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia.; Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Harrison K; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia., Cuny H; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Faculties of Medicine and Science, University of New South Wales, Sydney, Australia., Enriquez A; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia.; Faculties of Medicine and Science, University of New South Wales, Sydney, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia., Troup M; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Humphreys DT; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Wilson M; Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia., Harvey RP; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Faculties of Medicine and Science, University of New South Wales, Sydney, Australia., Sholler GF; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia.; Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Graham RM; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Faculties of Medicine and Science, University of New South Wales, Sydney, Australia., Ho JWK; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Faculties of Medicine and Science, University of New South Wales, Sydney, Australia., Kirk EP; Sydney Children's Hospital, Sydney, Australia., Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, Australia., Chapman G; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia., Winlaw DS; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia.; Divisions of Genetic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Giannoulatou E; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia.; Faculties of Medicine and Science, University of New South Wales, Sydney, Australia., Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, Australia. s.dunwoodie@victorchang.edu.au.; Faculties of Medicine and Science, University of New South Wales, Sydney, Australia. s.dunwoodie@victorchang.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 May; Vol. 21 (5), pp. 1111-1120. Date of Electronic Publication: 2018 Oct 08.
Autor:
Szot JO; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia., Slavotinek A; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Chong K; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada., Brandau O; SYNLAB MVZ Humangenetik Mannheim, Mannheim, Germany., Nezarati M; Genetics Program, North York General Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Devine WP; Department of Anatomic Pathology, University of California, San Francisco, California, USA., Rego S; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Acyinena AP; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Shannon P; Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada., Myles-Reid D; Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada., Blaser S; The Hospital for Sick Children, Toronto, Ontario, Canada., Mieghem TV; Fetal Medicine Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, Toronto, Ontario, Canada., Yavuz-Kienle H; SYNLAB MVZ Humangenetik Mannheim, Mannheim, Germany., Skladny H; SYNLAB MVZ Humangenetik Mannheim, Mannheim, Germany., Miller K; Genetics Program, North York General Hospital, Toronto, Ontario, Canada., Riera MDT; Metabolic Unit and Pediatric Neurology Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Martínez SA; Fetal Medicine Unit and Obstetrics Department, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Research Institute, Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona, Barcelona, Spain., Dupuis L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., James Stavropoulos D; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., McNiven V; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Mendoza-Londono R; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada., Phillips RS; Department of Biochemistry and Molecular Biology, University of Georgia, Athens, Georgia, USA.; Department of Chemistry, University of Georgia, Athens, Georgia, USA., Chapman G; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia., Dunwoodie SL; Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia.; Faculty of Medicine, University of New South Wales, Sydney, New South Wales, Australia.; Faculty of Science, University of New South Wales, Sydney, New South Wales, Australia.
Publikováno v:
Human mutation [Hum Mutat] 2021 Jul; Vol. 42 (7), pp. 862-876. Date of Electronic Publication: 2021 May 16.
Autor:
Alankarage D; Victor Chang Cardiac Research Institute, Department of Embryology, New South Wales, 2010 Sydney, Australia., Szot JO; Victor Chang Cardiac Research Institute, Department of Embryology, New South Wales, 2010 Sydney, Australia., Pachter N; Genetic Services of Western Australia, King Edward Memorial Hospital, Western Australia, 6008 Perth, Australia.; University of Western Australia, School of Paediatrics and Child Health, Western Australia, 6009 Perth, Australia., Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, 94158 CA, USA.; Institute of Human Genetics, University of California San Francisco, San Francisco, 94143 CA, USA., Selleri L; Institute of Human Genetics, University of California San Francisco, San Francisco, 94143 CA, USA.; Program in Craniofacial Biology, Department of Orofacial Sciences, University of California San Francisco, San Francisco, 94143 CA, USA.; Department of Anatomy, University of California San Francisco, San Francisco, 94143 CA, USA., Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, 94158 CA, USA.; Institute of Human Genetics, University of California San Francisco, San Francisco, 94143 CA, USA., Winlaw D; Victor Chang Cardiac Research Institute, Department of Embryology, New South Wales, 2010 Sydney, Australia.; Heart Centre for Children, The Children's Hospital at Westmead, New South Wales, 2145 Sydney, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, Faculty of Medicine and Health, University of Sydney, New South Wales, 2006 Sydney, Australia., Giannoulatou E; Victor Chang Cardiac Research Institute, Department of Embryology, New South Wales, 2010 Sydney, Australia.; Faculty of Medicine, University of New South Wales, St Vincent's Clinical School, New South Wales, 2010 Sydney, Australia., Chapman G; Victor Chang Cardiac Research Institute, Department of Embryology, New South Wales, 2010 Sydney, Australia.; Faculty of Medicine, University of New South Wales, St Vincent's Clinical School, New South Wales, 2010 Sydney, Australia., Dunwoodie SL; Victor Chang Cardiac Research Institute, Department of Embryology, New South Wales, 2010 Sydney, Australia.; Faculty of Medicine, University of New South Wales, St Vincent's Clinical School, New South Wales, 2010 Sydney, Australia.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2020 May 08; Vol. 29 (7), pp. 1068-1082.
Autor:
Chapman G; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia., Moreau JLM; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., I P E; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Szot JO; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Iyer KR; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Shi H; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Institute for Basic Medical Sciences, Westlake University, Hangzhou, China., Yam MX; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., O'Reilly VC; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Enriquez A; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.; Discipline of Genomic Medicine, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Greasby JA; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Alankarage D; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Martin EMMA; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Hanna BC; Hunter Genetics, John Hunter Hospital, Newcastle, NSW, 2298, Australia., Edwards M; Hunter Genetics, John Hunter Hospital, Newcastle, NSW, 2298, Australia.; Department of Paediatrics, School of Medicine, Western Sydney University, Sydney, NSW, 2560, Australia., Monger S; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia., Blue GM; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Kids Heart Research, Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia., Winlaw DS; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Kids Heart Research, Heart Centre for Children, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia., Ritchie HE; School of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia., Grieve SM; Sydney Translational Imaging Laboratory, Sydney Medical School, University of Sydney, Sydney, NSW, 2006, Australia.; Department of Radiology, Royal Prince Alfred Hospital, Sydney, NSW, 2050, Australia., Giannoulatou E; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Faculty of Science, University of New South Wales, Sydney, NSW, 2052, Australia., Sparrow DB; Department of Physiology, Anatomy and Genetics, University of Oxford, Oxford OX1 3PT, United Kingdom., Dunwoodie SL; Victor Chang Cardiac Research Institute, Sydney, NSW, 2010, Australia.; Faculty of Medicine, University of New South Wales, Sydney, NSW, 2052, Australia.; Faculty of Science, University of New South Wales, Sydney, NSW, 2052, Australia.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2020 Mar 13; Vol. 29 (4), pp. 566-579.
Autor:
Szot JO; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia., Campagnolo C; Division of Medical Genetics, Department of Pediatrics, University of Western Ontario, London, ON N6A 3K7, Canada., Cao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China; Obstetrics and Gynaecology Centre, Hong Kong Sanatorium and Hospital, Hong Kong SAR, China; Baylor Genetics, Houston, TX 77021, USA., Iyer KR; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia., Cuny H; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia., Drysdale T; Children's Health Research Institute, 800 Commissioners Road East, London, ON N6C 2V5, Canada; Department of Physiology and Pharmacology, Western University, London, ON N6A 5C1, Canada; Department of Paediatrics, Western University, 800 Commissioners Road East, London, ON N6A 5W9, Canada., Flores-Daboub JA; Division of Medical Genetics, Department of Pediatrics, University of Utah, UT 84112, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Westerfield L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Leung TN; Obstetrics and Gynaecology Centre, Hong Kong Sanatorium and Hospital, Hong Kong SAR, China., Choy KW; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China; The Chinese University of Hong Kong-Baylor College of Medicine Joint Center For Medical Genetics, Hong Kong SAR, China., Chapman G; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia., Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA., Siu VM; Division of Medical Genetics, Department of Pediatrics, University of Western Ontario, London, ON N6A 3K7, Canada; Children's Health Research Institute, 800 Commissioners Road East, London, ON N6C 2V5, Canada., Dunwoodie SL; Victor Chang Cardiac Research Institute, Darlinghurst, Sydney, NSW 2010, Australia; Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia; Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia. Electronic address: s.dunwoodie@victorchang.edu.au.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Jan 02; Vol. 106 (1), pp. 129-136. Date of Electronic Publication: 2019 Dec 26.
Autor:
Szot JO; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Cuny H; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Blue GM; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Humphreys DT; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Ip E; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Harrison K; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Sholler GF; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Giannoulatou E; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Leo P; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Duncan EL; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Sparrow DB; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Ho JWK; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Graham RM; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Pachter N; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Chapman G; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Winlaw DS; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.)., Dunwoodie SL; From the Victor Chang Cardiac Research Institute, Sydney, New South Wales, Australia (J.O.S., H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.); Faculty of Science (J.O.S., S.L.D.) and Faculty of Medicine (H.C., D.T.H., E.I., E.G., D.B.S., J.W.K.H., R.M.G., G.C., S.L.D.), University of New South Wales, Sydney, New South Wales, Australia, Sydney, New South Wales, Australia; Children's Hospital at Westmead, Heart Centre for Children (G.M.B., G.F.S., D.S.W.), Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, New South Wales, Australia (G.M.B., G.F.S., D.S.W.); Genetic Services of Western Australia, Perth (K.H., N.P.); Sydney Children's Hospitals Network, New South Wales, Australia (G.F.S.); Institute of Health and Biomedical Innovation, Queensland University of Technology (P.L., E.L.D.); Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia (E.L.D.); University of Queensland, Brisbane (E.L.D.); and School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia (N.P.). s.dunwoodie@victorchang.edu.au.
Publikováno v:
Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2018 Mar; Vol. 11 (3), pp. e001978.
Autor:
Slavotinek A; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA., Risolino M; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Program in Craniofacial Biology, Departments of Orofacial Sciences and Anatomy, University of California San Francisco, San Francisco, CA, USA., Losa M; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Program in Craniofacial Biology, Departments of Orofacial Sciences and Anatomy, University of California San Francisco, San Francisco, CA, USA., Cho MT; GeneDx, Gaithersburg, MD, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Schneidman-Duhovny D; School of Computer Science and Engineering, The Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Biochemistry, Institute of Life Sciences, The Hebrew University of Jerusalem, Jerusalem, Israel., Parisotto S; Division of Genetics, Department of Pediatrics, Hackensack University Medical Center, Hackensack, NJ, USA., Herkert JC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands., Miller K; Department of Pediatrics, Albany Medical Center, Albany, NY, USA., Shur N; Department of Pediatrics, Albany Medical Center, Albany, NY, USA., Chui J; Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA, USA., Muller E; Clinical Genetics, Stanford Children's Health at CPMC, San Francisco, CA, USA., DeBrosse S; Center for Human Genetics, University Hospitals Cleveland Medical Center, Cleveland, OH, USA., Szot JO; Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Chapman G; Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Pachter NS; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia., Winlaw DS; University of Sydney, Medical School, Sydney, NSW, Australia.; Heart Centre for Children, Children's Hospital at Westmead, Sydney, NSW, Australia., Mendelsohn BA; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA., Dalton J; Paul and Shelia Wellstone Muscular Dystrophy Center, University of Minnesota, Minneapolis, MN, USA., Sarafoglou K; Department of Pediatrics, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA., Karachunski PI; Department of Neurology, University of Minnesota, Minneapolis, MN, USA., Lewis JM; Department of Urology, University of Minnesota Masonic Children's Hospital, Minneapolis, MN, USA., Pedro H; Division of Genetics, Department of Pediatrics, Hackensack University Medical Center, Hackensack, NJ, USA., Dunwoodie SL; Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW, Australia.; University of New South Wales, Sydney, NSW, Australia., Selleri L; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Program in Craniofacial Biology, Departments of Orofacial Sciences and Anatomy, University of California San Francisco, San Francisco, CA, USA., Shieh J; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Institute of Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2017 Dec 15; Vol. 26 (24), pp. 4849-4860.