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PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Guimier, Anne; Achleitner, Melanie T; Moreau de Bellaing, Anne; Edwards, Matthew; de Pontual, Loïc; Mittal, Kirti; Dunn, Kyla E; Grove, Megan E; Tysoe, Carolyn J; Dimartino, Clémantine; Cameron, Jessie; Kanthi, Anil; Shukla, Anju; van den Broek, Florence; Chatterjee, Diptendu; Alston, Charlotte L; Knowles, Charlotte V; Brett, Laura; Till, Jan A; Homfray, Tessa; French, Paul; Spentzou, Georgia; Elserafy, Noha A; Lichkus, Kate S; Sankaran, Bindu P; Kennedy, Hannah L; George, Peter M; Kidd, Alexa; Wortmann, Saskia B; Fisk, Dianna G; Koopmann, Tamara T; Rafiq, Muhammad A; Merker, Jason D; Parikh, Sumith; Ahimaz, Priyanka; Weintraub, Robert G; Ma, Alan S; Turner, Christian; Ellaway, Carolyn J; Phillips, Liza K; Thorburn, David R; Chung, Wendy K; Kana, Sajel L; Faye-Petersen, Ona M; Thompson, Michelle L; Janin, Alexandre; McLeod, Karen; McGowan, Ruth; McFarland, Robert; Girisha, Katta M.
Affiliation
  • Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.
  • Achleitner MT; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France.
  • Moreau de Bellaing A; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Edwards M; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.
  • de Pontual L; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France.
  • Mittal K; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK.
  • Dunn KE; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.
  • Grove ME; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Tysoe CJ; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA.
  • Dimartino C; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA.
  • Cameron J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Kanthi A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.
  • Shukla A; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • van den Broek F; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Chatterjee D; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Alston CL; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Knowles CV; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Brett L; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Till JA; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK.
  • Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK.
  • French P; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK.
  • Spentzou G; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK.
  • Elserafy NA; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
  • Lichkus KS; The Royal Hospital for Children, Glasgow, UK.
  • Sankaran BP; Department of Pediatrics, Columbia University, New York, NY, USA.
  • Kennedy HL; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.
  • George PM; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.
  • Kidd A; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.
  • Wortmann SB; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand.
  • Fisk DG; Pathogene, Christchurch, New Zealand.
  • Koopmann TT; Clinical Genetics New Zealand, Christchurch, New Zealand.
  • Rafiq MA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.
  • Merker JD; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands.
  • Parikh S; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA.
  • Ahimaz P; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Weintraub RG; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Ma AS; Department of Pathology, School of Medicine, Stanford, CA, USA.
  • Turner C; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA.
  • Ellaway CJ; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA.
  • Phillips LK; Department of Pediatrics, Columbia University, New York, NY, USA.
  • Thorburn DR; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia.
  • Chung WK; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.
  • Kana SL; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia.
  • Faye-Petersen OM; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia.
  • Thompson ML; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.
  • Janin A; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia.
  • McLeod K; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.
  • McGowan R; University of Adelaide, Adelaide, SA, Australia.
  • McFarland R; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.
  • Girisha KM; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.
Genet Med ; 23(12): 2415-2425, 2021 12.
Article in En | MEDLINE | ID: mdl-34400813
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Death, Sudden, Cardiac / Cardiomyopathies Type of study: Etiology_studies / Risk_factors_studies Limits: Adolescent / Child, preschool / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Francia
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Death, Sudden, Cardiac / Cardiomyopathies Type of study: Etiology_studies / Risk_factors_studies Limits: Adolescent / Child, preschool / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: Francia