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Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.

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Title: Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Authors: Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton., Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton., Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan., Hock DH; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia., Welch AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Amarasekera SSC; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Rius R; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia., Imai-Okazaki A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo 162-8655, Japan., Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Wang M; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA., Tregoning S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Jabbari JS; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia., Lucattini A; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia., Nitta KR; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan., Ohtake A; Department of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Saitama, 350-0495, Japan., Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan., Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Wong FY; Ritchie Centre, Hudson Institute of Medical Research; Department of Paediatrics, Monash University; and Monash Newborn, Monash Children's Hospital, Melbourne, VIC 3168, Australia., van der Knaap MS; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands., Jeroen Vermeulen R; Department of Neurology, Maastricht University Medical Center, 6229 HX, Maastricht, The Netherlands., Wiltshire EJ; Department of Paediatrics and Child Health, University of Otago Wellington and Capital and Coast District Health Board, Wellington 6021, New Zealand., Fletcher JM; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia., Lewis B; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Nedlands, WA 6009, Australia., Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia and King Edward Memorial Hospital for Women Perth, Subiaco, WA 6008, Australia.; Telethon Kids Institute and School of Paediatrics and Child Health, The University of Western Australia, Perth, WA 6009, Australia., Ellaway C; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia., Balasubramaniam S; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia., Bhattacharya K; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia., Freckmann ML; Clinical Genetics, The Canberra Hospital, Garran, ACT 2605, Australia., Arbuckle S; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia., Rodriguez M; Discipline of Pathology, School of Medical Sciences, The University of Sydney, Sydney, NSW 2006, Australia., Taft RJ; Illumina, Inc., San Diego, CA 92121, USA., Sadedin S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia., Cowley MJ; Children's Cancer Institute, Kensington, NSW 2750, Australia; St Vincent's Clinical School, UNSW Sydney, Darlinghurst, NSW 2010, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia., Minoche AE; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia., Calvo SE; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA., Mootha VK; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA., Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia., Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan., Stroud DA; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia., Simons C; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072 Australia., Christodoulou J; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Lead contact.
Source: Med (New York, N.Y.) [Med] 2021 Jan 15; Vol. 2 (1), pp. 49-73. Date of Electronic Publication: 2020 Jul 09.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
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  Data: <searchLink fieldCode="AU" term="%22Frazier+AE%22">Frazier AE</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton.<br /><searchLink fieldCode="AU" term="%22Compton+AG%22">Compton AG</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton.<br /><searchLink fieldCode="AU" term="%22Kishita+Y%22">Kishita Y</searchLink>; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.<br /><searchLink fieldCode="AU" term="%22Hock+DH%22">Hock DH</searchLink>; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Welch+AE%22">Welch AE</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Amarasekera+SSC%22">Amarasekera SSC</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Rius+R%22">Rius R</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Formosa+LE%22">Formosa LE</searchLink>; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.<br /><searchLink fieldCode="AU" term="%22Imai-Okazaki+A%22">Imai-Okazaki A</searchLink>; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo 162-8655, Japan.<br /><searchLink fieldCode="AU" term="%22Francis+D%22">Francis D</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Wang+M%22">Wang M</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lake+NJ%22">Lake NJ</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.<br /><searchLink fieldCode="AU" term="%22Tregoning+S%22">Tregoning S</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Jabbari+JS%22">Jabbari JS</searchLink>; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Lucattini+A%22">Lucattini A</searchLink>; Australian Genome Research Facility Ltd, Victorian Comprehensive Cancer Centre, Melbourne VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Nitta+KR%22">Nitta KR</searchLink>; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.<br /><searchLink fieldCode="AU" term="%22Ohtake+A%22">Ohtake A</searchLink>; Department of Pediatrics & Clinical Genomics, Saitama Medical University Hospital, Saitama, 350-0495, Japan.<br /><searchLink fieldCode="AU" term="%22Murayama+K%22">Murayama K</searchLink>; Department of Metabolism, Chiba Children's Hospital, Chiba, 266-0007, Japan.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22McGillivray+G%22">McGillivray G</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Wong+FY%22">Wong FY</searchLink>; Ritchie Centre, Hudson Institute of Medical Research; Department of Paediatrics, Monash University; and Monash Newborn, Monash Children's Hospital, Melbourne, VIC 3168, Australia.<br /><searchLink fieldCode="AU" term="%22van+der+Knaap+MS%22">van der Knaap MS</searchLink>; Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.; Functional Genomics, Center for Neurogenomics and Cognitive Research, Vrije Universiteit and Amsterdam Neuroscience, 1081 HV Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Jeroen+Vermeulen+R%22">Jeroen Vermeulen R</searchLink>; Department of Neurology, Maastricht University Medical Center, 6229 HX, Maastricht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Wiltshire+EJ%22">Wiltshire EJ</searchLink>; Department of Paediatrics and Child Health, University of Otago Wellington and Capital and Coast District Health Board, Wellington 6021, New Zealand.<br /><searchLink fieldCode="AU" term="%22Fletcher+JM%22">Fletcher JM</searchLink>; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA 5000, Australia.<br /><searchLink fieldCode="AU" term="%22Lewis+B%22">Lewis B</searchLink>; Department of Clinical Biochemistry, PathWest Laboratory Medicine Western Australia, Nedlands, WA 6009, Australia.<br /><searchLink fieldCode="AU" term="%22Baynam+G%22">Baynam G</searchLink>; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia and King Edward Memorial Hospital for Women Perth, Subiaco, WA 6008, Australia.; Telethon Kids Institute and School of Paediatrics and Child Health, The University of Western Australia, Perth, WA 6009, Australia.<br /><searchLink fieldCode="AU" term="%22Ellaway+C%22">Ellaway C</searchLink>; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Balasubramaniam+S%22">Balasubramaniam S</searchLink>; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Bhattacharya+K%22">Bhattacharya K</searchLink>; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink>; Clinical Genetics, The Canberra Hospital, Garran, ACT 2605, Australia.<br /><searchLink fieldCode="AU" term="%22Arbuckle+S%22">Arbuckle S</searchLink>; Department of Histopathology, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Rodriguez+M%22">Rodriguez M</searchLink>; Discipline of Pathology, School of Medical Sciences, The University of Sydney, Sydney, NSW 2006, Australia.<br /><searchLink fieldCode="AU" term="%22Taft+RJ%22">Taft RJ</searchLink>; Illumina, Inc., San Diego, CA 92121, USA.<br /><searchLink fieldCode="AU" term="%22Sadedin+S%22">Sadedin S</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Cowley+MJ%22">Cowley MJ</searchLink>; Children's Cancer Institute, Kensington, NSW 2750, Australia; St Vincent's Clinical School, UNSW Sydney, Darlinghurst, NSW 2010, Australia.; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.<br /><searchLink fieldCode="AU" term="%22Minoche+AE%22">Minoche AE</searchLink>; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.<br /><searchLink fieldCode="AU" term="%22Calvo+SE%22">Calvo SE</searchLink>; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA.<br /><searchLink fieldCode="AU" term="%22Mootha+VK%22">Mootha VK</searchLink>; Broad Institute, Cambridge, MA 02142, USA; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Harvard Medical School, Boston, MA 02446, USA.<br /><searchLink fieldCode="AU" term="%22Ryan+MT%22">Ryan MT</searchLink>; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.<br /><searchLink fieldCode="AU" term="%22Okazaki+Y%22">Okazaki Y</searchLink>; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.<br /><searchLink fieldCode="AU" term="%22Stroud+DA%22">Stroud DA</searchLink>; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.<br /><searchLink fieldCode="AU" term="%22Simons+C%22">Simons C</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072 Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW 2145, Australia.<br /><searchLink fieldCode="AU" term="%22Thorburn+DR%22">Thorburn DR</searchLink>; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Lead contact.
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          Dates:
            – D: 15
              M: 01
              Text: 2021 Jan 15
              Type: published
              Y: 2021
          Identifiers:
            – Type: issn-electronic
              Value: 2666-6340
          Numbering:
            – Type: volume
              Value: 2
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Med (New York, N.Y.)
              Type: main
ResultId 1