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المؤلفون: Risch Neil, Myers Richard, Li Jun, Iribarren Carlos, Hlatky Mark, Go Alan, Grove Megan L, Fortmann Stephen P, Boerwinkle Eric, Assimes Themistocles L, Knowles Joshua W, Sidney Stephen, Southwick Audrey, Volcik Kelly A, Quertermous Thomas

المصدر: BMC Medical Genetics, Vol 9, Iss 1, p 23 (2008)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/9/23; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/339c1de7ba22471291b322c494470caa

المؤلفون: Krysov VA; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.).; University of California, Davis School of Medicine, Sacramento, CA (V.A.K.)., Wilson RH; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.)., Ten NS; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.)., Youlton N; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.)., De Jong HN; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.).; Department of Genetics, Stanford University School of Medicine, Palo Alto, CA (H.N.D.J., E.A.A.).; Maze Therapeutics, Inc., San Francisco, CA (H.N.D.J.)., Sutton S; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.)., Huang Y; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.)., Reuter CM; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.).; Color Health, Burlingame, CA (C.M.R., M.E.G.)., Grove ME; Color Health, Burlingame, CA (C.M.R., M.E.G.)., Wheeler MT; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.).; Stanford Center for Inherited Cardiovascular Disease, Stanford Medicine, CA (M.T.W., E.A.A., V.N.P.)., Ashley EA; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.).; Department of Genetics, Stanford University School of Medicine, Palo Alto, CA (H.N.D.J., E.A.A.).; Stanford Center for Inherited Cardiovascular Disease, Stanford Medicine, CA (M.T.W., E.A.A., V.N.P.)., Parikh VN; Division of Cardiovascular Medicine (V.A.K., R.H.W., N.S.T., N.Y., H.N.D.J., S.S., Y.H., C.M.R., M.T.W., E.A.A., V.N.P.).; Stanford Center for Inherited Cardiovascular Disease, Stanford Medicine, CA (M.T.W., E.A.A., V.N.P.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Apr; Vol. 17 (2), pp. e004370. Date of Electronic Publication: 2024 Mar 20.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Gene Editing* , Cardiovascular Diseases*/genetics , Cardiovascular Diseases*/therapy, Humans ; Mutation, Missense

المؤلفون: Russell C; Department of Genetics, Stanford University, Stanford, California, USA., Campion M; Department of Genetics, Stanford University, Stanford, California, USA., Grove ME; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California, USA., Matsuda K; Division of Pharmacy and Cardiology, Stanford Health Care, Palo Alto, California, USA., Klein TE; Department of Biomedical Data Science, Stanford University, Stanford, California, USA., Ashley E; Stanford Center for Inherited Cardiovascular Disease, Stanford, California, USA.; Department of Medicine, Division of Cardiovascular Medicine, Stanford University, Stanford, California, USA., Naik H; Department of Genetics, Stanford University, Stanford, California, USA., Wheeler MT; Stanford Center for Inherited Cardiovascular Disease, Stanford, California, USA.; Department of Medicine, Division of Cardiovascular Medicine, Stanford University, Stanford, California, USA., Scott SA; Clinical Genomics Laboratory, Stanford Medicine, Palo Alto, California, USA.; Department of Pathology, Stanford University, Stanford, California, USA.

المصدر: Clinical and translational science [Clin Transl Sci] 2024 Mar; Vol. 17 (3), pp. e13737.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

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

مواضيع طبية MeSH: Pharmacogenomic Testing* , Cardiovascular System*, Humans ; Genetic Testing ; Pharmacists ; Pharmacogenetics

المؤلفون: Goenka SD; Stanford University, Stanford, CA, USA., Gorzynski JE; Stanford University, Stanford, CA, USA., Shafin K; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Fisk DG; Stanford Health Care, Palo Alto, CA, USA., Pesout T; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Jensen TD; Stanford University, Stanford, CA, USA., Monlong J; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Chang PC; Google Inc, Mountain View, CA, USA., Baid G; Google Inc, Mountain View, CA, USA., Bernstein JA; Stanford University, Stanford, CA, USA., Christle JW; Stanford University, Stanford, CA, USA., Dalton KP; Stanford University, Stanford, CA, USA., Garalde DR; Oxford Nanopore Technologies, Oxford, UK., Grove ME; Stanford Health Care, Palo Alto, CA, USA., Guillory J; Oxford Nanopore Technologies, Oxford, UK., Kolesnikov A; Google Inc, Mountain View, CA, USA., Nattestad M; Google Inc, Mountain View, CA, USA., Ruzhnikov MRZ; Stanford University, Stanford, CA, USA., Samadi M; NVIDIA Corporation, Santa Clara, CA, USA., Sethia A; NVIDIA Corporation, Santa Clara, CA, USA., Spiteri E; Stanford University, Stanford, CA, USA., Wright CJ; Oxford Nanopore Technologies, Oxford, UK., Xiong K; Stanford University, Stanford, CA, USA., Zhu T; NVIDIA Corporation, Santa Clara, CA, USA., Jain M; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Sedlazeck FJ; Baylor College of Medicine, Houston, TX, USA., Carroll A; Google Inc, Mountain View, CA, USA., Paten B; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA., Ashley EA; Stanford University, Stanford, CA, USA. euan@stanford.edu.

المصدر: Nature biotechnology [Nat Biotechnol] 2022 Jul; Vol. 40 (7), pp. 1035-1041. Date of Electronic Publication: 2022 Mar 28.

نوع المنشور: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: MEDLINE

مواضيع طبية MeSH: Nanopore Sequencing* , Nanopores*, Chromosome Mapping ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Whole Genome Sequencing/methods

المؤلفون: Gorzynski JE; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Goenka SD; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Shafin K; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA (K.S., T.P., J.M., M.J., B.P.)., Jensen TD; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Fisk DG; Stanford Health Care, Palo Alto, CA (D.G.F., M.E.G.)., Grove ME; Stanford Health Care, Palo Alto, CA (D.G.F., M.E.G.)., Spiteri E; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Pesout T; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA (K.S., T.P., J.M., M.J., B.P.)., Monlong J; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA (K.S., T.P., J.M., M.J., B.P.)., Bernstein JA; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Ceresnak S; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Chang PC; Google Inc, Mountain View, CA (P.-C.C., A.C.)., Christle JW; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Chubb H; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Dunn K; Stanford Children's Health, Palo Alto, CA (K.D.)., Garalde DR; Oxford Nanopore Technologies, United Kingdom (D.R.G., J.G., C.W.)., Guillory J; Oxford Nanopore Technologies, United Kingdom (D.R.G., J.G., C.W.)., Ruzhnikov MRZ; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Wright C; Oxford Nanopore Technologies, United Kingdom (D.R.G., J.G., C.W.)., Wusthoff CJ; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Xiong K; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Hollander SA; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Berry GJ; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.)., Jain M; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA (K.S., T.P., J.M., M.J., B.P.)., Sedlazeck FJ; Baylor College of Medicine, Houston, TX (F.J.S.)., Carroll A; Google Inc, Mountain View, CA (P.-C.C., A.C.)., Paten B; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA (K.S., T.P., J.M., M.J., B.P.)., Ashley EA; Stanford University, CA (J.E.G., S.D.G., T.D.J., E.S., J.A.B., S.C., J.W.C., H.C., M.R.Z.R., C.J.W., K.X., S.A.H., G.J.B., E.A.A.).

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2022 Apr; Vol. 15 (2), pp. e003591. Date of Electronic Publication: 2022 Feb 08.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Dilated*/diagnosis , Cardiomyopathy, Dilated*/genetics , Nanopores*, Adolescent ; Genetic Testing ; Humans ; Shock, Cardiogenic/diagnosis ; Shock, Cardiogenic/genetics

المؤلفون: Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 967.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Gorzynski JE; Stanford University, Stanford, CA., Goenka SD; Stanford University, Stanford, CA., Shafin K; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA., Jensen TD; Stanford University, Stanford, CA., Fisk DG; Stanford Health Care, Palo Alto, CA., Grove ME; Stanford Health Care, Palo Alto, CA., Spiteri E; Stanford University, Stanford, CA., Pesout T; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA., Monlong J; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA., Baid G; Google, Mountain View, CA., Bernstein JA; Stanford University, Stanford, CA., Ceresnak S; Stanford University, Stanford, CA., Chang PC; Google, Mountain View, CA., Christle JW; Stanford University, Stanford, CA., Chubb H; Stanford University, Stanford, CA., Dalton KP; Stanford University, Stanford, CA., Dunn K; Stanford Children's Health, Palo Alto, CA., Garalde DR; Oxford Nanopore Technologies, Oxford, United Kingdom., Guillory J; Oxford Nanopore Technologies, Oxford, United Kingdom., Knowles JW; Stanford University, Stanford, CA., Kolesnikov A; Google, Mountain View, CA., Ma M; Stanford University, Stanford, CA., Moscarello T; Stanford Health Care, Palo Alto, CA., Nattestad M; Google, Mountain View, CA., Perez M; Stanford University, Stanford, CA., Ruzhnikov MRZ; Stanford University, Stanford, CA., Samadi M; Nvidia, Santa Clara, CA., Setia A; Nvidia, Santa Clara, CA., Wright C; Oxford Nanopore Technologies, Oxford, United Kingdom., Wusthoff CJ; Stanford University, Stanford, CA., Xiong K; Stanford University, Stanford, CA., Zhu T; Nvidia, Santa Clara, CA., Jain M; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA., Sedlazeck FJ; Baylor College of Medicine, Houston, TX., Carroll A; Google, Mountain View, CA., Paten B; University of California at Santa Cruz Genomics Institute, Santa Cruz, CA., Ashley EA; Stanford University, Stanford, CA euan@stanford.edu.

المصدر: The New England journal of medicine [N Engl J Med] 2022 Feb 17; Vol. 386 (7), pp. 700-702. Date of Electronic Publication: 2022 Jan 12.

نوع المنشور: Letter; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

مواضيع طبية MeSH: Critical Care*, Nanopore Sequencing/*methods , Neurodevelopmental Disorders/*diagnosis, Adolescent ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Mutation ; Nanopore Sequencing/economics ; Neurodevelopmental Disorders/genetics ; Sequence Analysis, DNA/methods ; Status Epilepticus/genetics

المؤلفون: Guimier A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France., Achleitner MT; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Moreau de Bellaing A; INSERM U1163, Université de Paris, Institut Imagine, Paris, France.; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Edwards M; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., de Pontual L; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Mittal K; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Dunn KE; Children's Heart Center, Stanford Children's Health, Palo Alto, CA, USA., Grove ME; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Tysoe CJ; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dimartino C; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Cameron J; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Kanthi A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., van den Broek F; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria., Chatterjee D; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Alston CL; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Knowles CV; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Brett L; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Till JA; Paediatric Cardiology, Royal Brompton and Harefield NHS Trust, London, UK., Homfray T; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., French P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Spentzou G; The Royal Hospital for Children, Glasgow, UK.; Department of Pediatrics, Columbia University, New York, NY, USA., Elserafy NA; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Lichkus KS; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Sankaran BP; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia., Kennedy HL; Department of Psychological Medicine, University of Otago, Christchurch, New Zealand., George PM; Pathogene, Christchurch, New Zealand., Kidd A; Clinical Genetics New Zealand, Christchurch, New Zealand., Wortmann SB; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria.; Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Fisk DG; Stanford Medicine Clinical Genomics Program, Stanford, CA, USA., Koopmann TT; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Rafiq MA; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Merker JD; Department of Pathology, School of Medicine, Stanford, CA, USA.; Departments of Pathology and Laboratory Medicine & Genetics, Lineberger Comprehensive Cancer Center, University of North Carolina School Medicine, Chapel Hill, NC, USA., Parikh S; Mitochondrial Medicine Center, Neuroscience Institute, Cleveland Clinic, Cleveland, OH, USA., Ahimaz P; Department of Pediatrics, Columbia University, New York, NY, USA., Weintraub RG; The Royal Children's Hospital Melbourne, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Turner C; Heart Centre for Children, The Children's Hospital at Westmead, Sydney, Australia., Ellaway CJ; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney Children's Hospital Network, Sydney, NSW, Australia.; Disciplines of Genomic Medicine and Child and Adolescent Health, University of Sydney, Sydney, Australia., Phillips LK; SA Pathology, Department of Genetics and Molecular Pathology, Adelaide, SA, Australia.; University of Adelaide, Adelaide, SA, Australia., Thorburn DR; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics, Columbia University, New York, NY, USA., Kana SL; Division of Clinical Genetics and Metabolism, Nicklaus Children's Health System, Miami, FL, USA.; Florida International University, Miami, FL, USA., Faye-Petersen OM; Department of Pathology, University of Alabama at Birmingham, Birmingham, AL, USA., Thompson ML; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Janin A; Laboratoire de Cardiogénétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Hospices Civils de Lyon, Lyon, France.; Institut NeuroMyoGène, Université Claude Bernard Lyon 1, Lyon, France., McLeod K; The Royal Hospital for Children, Glasgow, UK., McGowan R; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., McFarland R; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India., Morris-Rosendahl DJ; Clinical Genetics and Genomics Laboratory, Royal Brompton and Harefield NHS Trust, London, UK., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Turner CLS; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Hamilton RM; Translational Medicine program and the Genetics & Genome Biology Program, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada., Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK., Bajolle F; Unité médico-chirurgicale de cardiologie pédiatrique, Hôpital Necker Enfants Malades, APHP, Paris, France., Gordon CT; INSERM U1163, Université de Paris, Institut Imagine, Paris, France., Amiel J; INSERM U1163, Université de Paris, Institut Imagine, Paris, France. jeanne.amiel@inserm.fr.; Service de Génétique, Hôpital Necker Enfants Malades, APHP, Paris, France. jeanne.amiel@inserm.fr., Mayr JA; Department of Pediatrics, Paracelsus Medical University Salzburg, Salzburg, Austria. h.mayr@salk.at., Doudney K; Centre for Postgraduate Nursing Studies and the Department of Pathology and Biomedical Science, University of Otago Christchurch, Otautahi, New Zealand. kit.doudney@otago.ac.nz.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Dec; Vol. 23 (12), pp. 2415-2425. Date of Electronic Publication: 2021 Aug 16.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Cardiomyopathies*/genetics , Death, Sudden, Cardiac*/etiology, Adolescent ; Alleles ; Child, Preschool ; Humans ; Inorganic Pyrophosphatase/genetics ; Inorganic Pyrophosphatase/metabolism ; Mitochondrial Proteins/genetics ; Mutation