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المؤلفون: Jang MY; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.; Department of Medicine (M.Y.J., A.H.), Brigham and Women's Hospital, Boston, MA., Patel PN; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.; Division of Cardiology, Massachusetts General Hospital, Boston, MA (P.N.P.)., Pereira AC; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA., Willcox JAL; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA., Haghighi A; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.; Department of Medicine (M.Y.J., A.H.), Brigham and Women's Hospital, Boston, MA., Tai AC; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA., Ito K; Laboratory for Cardiovascular Diseases, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan (K.I.)., Morton SU; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.; Pediatrics (S.U.M.), Harvard Medical School, Boston, MA., Gorham JM; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA., McKean DM; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA., DePalma SR; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.; Division of Cardiology (S.R.D., C.E.S.), Brigham and Women's Hospital, Boston, MA., Bernstein D; Department of Pediatrics, Stanford University, Palo Alto, CA (D.B.)., Brueckner M; Departments of Genetics (M.B.), Yale University School of Medicine, New Haven, CT.; Pediatric Cardiology (M.B.), Yale University School of Medicine, New Haven, CT., Chung WK; Departments of Pediatrics (W.K.C.), Columbia University Medical Center, New York, NY.; Medicine (W.K.C.), Columbia University Medical Center, New York, NY., Giardini A; Cardiorespiratory Unit, Great Ormond Street Hospital, London, United Kingdom (A.G.)., Goldmuntz E; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA (E.G.)., Kaltman JR; Heart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, National Institute of Heart, Lung, and Blood, National Institutes of Health, Bethesda, MD (J.R.K.)., Kim R; Department of Cardiac Surgery, Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA (R.K.)., Newburger JW; Department of Cardiology (J.W.N.), Boston Children's Hospital, MA.; Department of Cardiology (J.W.N.), Boston Children's Hospital, MA., Shen Y; Systems Biology (Y.S.), Columbia University Medical Center, New York, NY.; Biomedical Informatics (Y.S.), Columbia University Medical Center, New York, NY., Srivastava D; Gladstone Institute of Cardiovascular Disease, San Francisco, CA (D.S.)., Tristani-Firouzi M; Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, Salt Lake City, UT (M.T.-F.)., Gelb BD; Mindich Child Health and Development Institute (B.D.G.), Icahn School of Medicine at Mount Sinai, New York.; Department of Pediatrics (B.D.G.), Icahn School of Medicine at Mount Sinai, New York.; Department of Genetics (B.D.G.), Icahn School of Medicine at Mount Sinai, New York.; Department of Genomic Sciences (B.D. co-occurrence G.), Icahn School of Medicine at Mount Sinai, New York., Porter GA Jr; Department of Pediatrics, University of Rochester Medical Center, NY (G.A.P.)., Seidman CE; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.; Division of Cardiology (S.R.D., C.E.S.), Brigham and Women's Hospital, Boston, MA.; Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.)., Seidman JG; Departments of Genetics (M.Y.J., P.N.P., A.C.P., J.A.L.W., A.H., A.C.T., S.U.M., J.M.G., D.M.M., S.R.D., C.E.S., J.G.S.), Harvard Medical School, Boston, MA.

المصدر: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2023 Jun; Vol. 16 (3), pp. 224-231. Date of Electronic Publication: 2023 May 11.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; 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: RNA* , Heart Defects, Congenital*/diagnosis , Heart Defects, Congenital*/genetics, Child ; Humans ; Mutation ; RNA Splicing ; Gene Frequency ; RNA Splicing Factors/genetics ; Repressor Proteins/genetics

المؤلفون: Bangolo A; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Sagireddy S; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Desrochers P; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Laabidi I; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Nagesh VK; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Jarri A; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Sekhon I; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Laabidi Y; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Muralidhar D; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Singh A; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Sanjeeva PRP; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Sandhu DS; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Salma S; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Khan SA; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Ali MI; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Kim SH; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Bajwa W; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Tai AC; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Itani A; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Ahmed K; Department of Medicine, University of Washington, Seattle, WA 98195, USA., Ozmen M; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Hirpara B; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Borse SM; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA., Weissman S; Department of Medicine, Hackensack Meridian Health Palisades Medical Center, North Bergen, NJ 07047, USA.

المصدر: Diseases (Basel, Switzerland) [Diseases] 2023 Apr 06; Vol. 11 (2). Date of Electronic Publication: 2023 Apr 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101636232 Publication Model: Electronic Cited Medium: Print ISSN: 2079-9721 (Print) Linking ISSN: 20799721 NLM ISO Abbreviation: Diseases Subsets: PubMed not MEDLINE

المؤلفون: Agarwal R; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Wakimoto H; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Paulo JA; Department of Cell Biology (J.A.P., S.P.G.), Harvard Medical School, Boston, MA., Zhang Q; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Reichart D; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Toepfer C; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA.; Radcliffe Department of Medicine (C.T.), University of Oxford, United Kingdom.; Wellcome Centre for Human Genetics (C.T.), University of Oxford, United Kingdom., Sharma A; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA.; Board of Governors Regenerative Medicine Institute (A.S.), Cedars-Sinai Medical Center, Los Angeles, CA.; Smidt Heart Institute (A.S.), Cedars-Sinai Medical Center, Los Angeles, CA.; Department of Biomedical Sciences (A.S.), Cedars-Sinai Medical Center, Los Angeles, CA., Tai AC; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Lun M; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Gorham J; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., DePalma SR; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Gygi SP; Department of Cell Biology (J.A.P., S.P.G.), Harvard Medical School, Boston, MA., Seidman JG; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA., Seidman CE; Department of Genetics (R.A., H.W., Q.Z., D.R., C.T., A.S., A.C.T., M.L., J.G., S.R.D., J.G.S., C.E.S.), Harvard Medical School, Boston, MA.; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA (C.E.S.).; Howard Hughes Medical Institute, Chevy Chase, MD (C.E.S.).

المصدر: Circulation [Circulation] 2022 Nov 29; Vol. 146 (22), pp. 1674-1693. Date of Electronic Publication: 2022 Nov 02.

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

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0147763 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4539 (Electronic) Linking ISSN: 00097322 NLM ISO Abbreviation: Circulation Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathies*/genetics , Cardiomyopathies*/metabolism , Induced Pluripotent Stem Cells*/metabolism , Muscle Proteins*/genetics , Protein Kinases*/genetics, Adult ; Animals ; Child ; Humans ; Mice ; Connectin/metabolism ; Myocytes, Cardiac/metabolism ; Sarcomeres/metabolism

المؤلفون: Yuan J; Centre for Orthopaedic Translational Research, Medical School, The University of Western Australia, Nedlands, Western Australia, 6009, Australia.; Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, 6009, Australia., Gao YS; Department of Orthopaedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China., Liu DL; Centre for Orthopaedic Translational Research, Medical School, The University of Western Australia, Nedlands, Western Australia, 6009, Australia.; Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, 6009, Australia., Pang Tai AC; Centre for Orthopaedic Translational Research, Medical School, The University of Western Australia, Nedlands, Western Australia, 6009, Australia.; Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, 6009, Australia., Zhou H; Bone Research Program, ANZAC Research Institute, The University of Sydney, Sydney, NSW, Australia., Papadimitriou JM; Pathwest Laboratories and Faculty of Health and Medical Sciences, The University of Western Australia, Nedlands, WA, 6009, Australia., Zhang CQ; Department of Orthopaedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China., Zheng MH; Centre for Orthopaedic Translational Research, Medical School, The University of Western Australia, Nedlands, Western Australia, 6009, Australia.; Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, 6009, Australia., Gao JJ; Department of Orthopaedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, 200233, China.

المصدر: Journal of orthopaedic translation [J Orthop Translat] 2022 Nov 24; Vol. 38, pp. 229-240. Date of Electronic Publication: 2022 Nov 24 (Print Publication: 2023).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Singapore NLM ID: 101625127 Publication Model: eCollection Cited Medium: Print ISSN: 2214-031X (Print) Linking ISSN: 2214031X NLM ISO Abbreviation: J Orthop Translat Subsets: PubMed not MEDLINE

المؤلفون: Willcox JAL; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Geiger JT; Department of Pediatrics, University of Rochester Medical Center, Rochester, NY 14642, USA., Morton SU; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA., McKean D; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Quiat D; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Department of Cardiology, Boston Children's Hospital, Boston, MA 02115, USA., Gorham JM; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Tai AC; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., DePalma S; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Bernstein D; Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA., Brueckner M; Departments of Genetics and Pediatric Cardiology, Yale University School of Medicine, New Haven, CT 06510, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10019, USA., Giardini A; Cardiorespiratory Unit, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK., Goldmuntz E; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Kaltman JR; Heart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, NHLBI/NIH, Bethesda, MD 20892, USA., Kim R; Cardiothoracic Surgery, Children's Hospital Los Angeles, Los Angeles, CA 90027, USA., Newburger JW; Department of Cardiology, Boston Children's Hospital, Boston, MA 02115, USA., Shen Y; Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, NY 10019, USA., Srivastava D; Gladstone Institute of Cardiovascular Disease, San Francisco, CA 94158, USA., Tristani-Firouzi M; Nora Eccles Harrison Cardiovascular Research and Training Institute, University of Utah, Salt Lake City, UT 84132, USA., Gelb B; Mindich Child Health and Development Institute and Departments of Pediatrics, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Porter GA Jr; Department of Pediatrics, University of Rochester Medical Center, Rochester, NY 14642, USA., Seidman JG; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. Electronic address: seidman@genetics.med.harvard.edu., Seidman CE; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Department of Cardiology, Brigham and Women's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Harvard University, Boston, MA 02138, USA.

المصدر: American journal of human genetics [Am J Hum Genet] 2022 May 05; Vol. 109 (5), pp. 961-966. Date of Electronic Publication: 2022 Apr 08.

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

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

مواضيع طبية MeSH: DNA, Mitochondrial*/genetics , Heart Defects, Congenital*/genetics, DNA Copy Number Variations/genetics ; Humans ; Mitochondria/genetics ; Mutation/genetics

المؤلفون: Hsieh A; Columbia University Medical Center, 1130 St Nicholas Ave, New York, NY, 10032, USA., Morton SU; Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA., Willcox JAL; Harvard Medical School, Boston, MA, USA., Gorham JM; Harvard Medical School, Boston, MA, USA., Tai AC; Harvard Medical School, Boston, MA, USA., Qi H; Columbia University Medical Center, 1130 St Nicholas Ave, New York, NY, 10032, USA., DePalma S; Harvard Medical School, Boston, MA, USA., McKean D; Harvard Medical School, Boston, MA, USA., Griffin E; Columbia University Medical Center, 1130 St Nicholas Ave, New York, NY, 10032, USA., Manheimer KB; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Bernstein D; Stanford University, Palo Alto, CA, USA., Kim RW; Children's Hospital Los Angeles, Los Angeles, CA, USA., Newburger JW; Boston Children's Hospital, Boston, MA, USA., Porter GA Jr; University of Rochester Medical Center, Rochester, NY, USA., Srivastava D; Gladstone Institutes and University of California San Francisco, San Francisco, CA, USA., Tristani-Firouzi M; University of Utah School of Medicine, Salt Lake City, UT, USA., Brueckner M; Yale University School of Medicine, New Haven, CT, USA., Lifton RP; Rockefeller University, New York, NY, USA., Goldmuntz E; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gelb BD; Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chung WK; Columbia University Medical Center, 1130 St Nicholas Ave, New York, NY, 10032, USA., Seidman CE; Harvard Medical School, Boston, MA, USA.; Brigham and Women's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Harvard University, Boston, MA, USA., Seidman JG; Harvard Medical School, Boston, MA, USA., Shen Y; Columbia University Medical Center, 1130 St Nicholas Ave, New York, NY, 10032, USA. ys2411@cumc.columbia.edu.

المصدر: Genome medicine [Genome Med] 2020 Apr 29; Vol. 12 (1), pp. 42. Date of Electronic Publication: 2020 Apr 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

مواضيع طبية MeSH: Software*, Heart Defects, Congenital/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Humans ; Infant ; Mosaicism ; Point Mutation ; Young Adult

المؤلفون: Toepfer CN; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. christopher_toepfer@hms.harvard.edu cseidman@genetics.med.harvard.edu.; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, OX3 9DU, UK.; Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN, UK., Wakimoto H; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.; Department of Cardiology, Children's Hospital Boston, Boston, MA 02115, USA., Garfinkel AC; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., McDonough B; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA., Liao D; Department of Biochemistry and Cardiovascular Research Institute (CVRI), Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore., Jiang J; Department of Biochemistry and Cardiovascular Research Institute (CVRI), Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore., Tai AC; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Gorham JM; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Lunde IG; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA.; Institute for Experimental Medical Research, Oslo University Hospital and University of Oslo, 0318 Oslo, Norway., Lun M; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA., Lynch TL 4th; Department of Molecular Pharmacology and Therapeutics, Health Sciences Division, Loyola University Chicago, Maywood, IL 60153, USA., McNamara JW; Heart, Lung and Vascular Institute, University of Cincinnati, Cincinnati, OH 45219, USA., Sadayappan S; Heart, Lung and Vascular Institute, University of Cincinnati, Cincinnati, OH 45219, USA., Redwood CS; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, OX3 9DU, UK., Watkins HC; Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, OX3 9DU, UK.; Wellcome Centre for Human Genetics, University of Oxford, OX3 7BN, UK., Seidman JG; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Seidman CE; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA. christopher_toepfer@hms.harvard.edu cseidman@genetics.med.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.; Division of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.

المصدر: Science translational medicine [Sci Transl Med] 2019 Jan 23; Vol. 11 (476).

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

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Cardiomyopathy, Hypertrophic/*genetics , Carrier Proteins/*genetics , Mutation/*genetics , Myosins/*metabolism, Adenosine Triphosphate/analogs & derivatives ; Adenosine Triphosphate/metabolism ; Animals ; Cardiomyopathy, Hypertrophic/physiopathology ; Disease Models, Animal ; Haploinsufficiency ; Humans ; Mice ; Myocardial Contraction ; Myocardium/metabolism ; Myocardium/pathology ; Myocytes, Cardiac/metabolism ; Phenotype ; ortho-Aminobenzoates/metabolism

المؤلفون: Manheimer KB; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Patel N; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Richter F; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York., Gorham J; Department of Genetics, Harvard Medical School, Boston, Massachusetts., Tai AC; Department of Genetics, Harvard Medical School, Boston, Massachusetts., Homsy J; Department of Genetics, Harvard Medical School, Boston, Massachusetts.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts., Boskovski MT; Division of Cardiac Surgery, The Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts., Parfenov M; Department of Genetics, Harvard Medical School, Boston, Massachusetts., Goldmuntz E; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Division of Cardiology, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Chung WK; Department of Pediatrics, Columbia University Medical Center, New York, New York.; Department of Medicine, Columbia University Medical Center, New York, New York., Brueckner M; Genetics, Yale University School of Medicine, New Haven, Connecticut.; Pediatrics, Yale University School of Medicine, New Haven, Connecticut., Tristani-Firouzi M; Department of Pediatric Cardiology, University of Utah, Salt Lake City, Utah., Srivastava D; Department of Pediatrics, UCSF, San Francisco, California.; Gladstone Institutes, San Francisco, California., Seidman JG; Department of Genetics, Harvard Medical School, Boston, Massachusetts., Seidman CE; Department of Genetics, Harvard Medical School, Boston, Massachusetts.; Department of Medicine (Cardiology), Brigham and Women's Hospital, Boston, Massachusetts.; The Howard Hughes Medical Institute, Chevy Chase, Maryland., Gelb BD; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Genetics and Genomic Sciences and, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York., Sharp AJ; Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.; Department of Genetics and Genomic Sciences and, Icahn School of Medicine at Mount Sinai, New York, New York.

المصدر: Human mutation [Hum Mutat] 2018 Jun; Vol. 39 (6), pp. 870-881. Date of Electronic Publication: 2018 Mar 22.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations/*genetics , DNA Mutational Analysis/*methods , Genome, Human/*genetics , Sequence Deletion/*genetics, Chromosome Mapping ; Exome/genetics ; Female ; Heart Defects, Congenital/genetics ; Humans ; Male ; Exome Sequencing ; Whole Genome Sequencing

المؤلفون: Tai AC; Department of Genetics, Harvard Medical School, Boston, Massachusetts., Parfenov M; Department of Genetics, Harvard Medical School, Boston, Massachusetts., Gorham JM; Department of Genetics, Harvard Medical School, Boston, Massachusetts.

المصدر: Current protocols in human genetics [Curr Protoc Hum Genet] 2018 Apr; Vol. 97 (1), pp. e58.

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

بيانات الدورية: Country of Publication: United States NLM ID: 101287858 Publication Model: Print Cited Medium: Internet ISSN: 1934-8258 (Electronic) Linking ISSN: 19348258 NLM ISO Abbreviation: Curr Protoc Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Polymorphism, Single Nucleotide*, DNA/*analysis , Molecular Probes/*chemistry , Polymerase Chain Reaction/*methods, Biological Assay ; Humans