المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Duzkale, H, Shen, J, McLaughlin, H, Alfares, A, Kelly, MA, Pugh, TJ, Funke, BH, Rehm, HL, Lebo, MS

مصطلحات موضوعية: Male, Base Sequence, Decision Trees, Molecular Sequence Data, Genetic Variation, High-Throughput Nucleotide Sequencing, Prognosis, Risk Assessment, Article, Databases, Genetic, Humans, Female, Genetic Testing, RNA, Messenger, Algorithms, Software

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::29ff0ff5fa40542b0c5d1ed383e49482
https://europepmc.org/articles/PMC3995020/

المؤلفون: Rehm, HL, Hernandez, AL, Kenna, MA, Funke, BH

المصدر: Herbsttagung der Klinik für Hals-Nasen-Ohrenheilkunde, Kopf-und Halschirurgie Regensburg mit wissenschaftlicher Unterstützung der ADANO 2011; 20110929-20110930; Regensburg; DOC11adano13 /20110921/

مصطلحات موضوعية: ddc: 610, 610 Medical sciences, Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d1999cbe00a30bf86568dd25a4a9e3b

المؤلفون: SoRelle JA; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas., Funke BH; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Sema4, Stamford, Connecticut; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York., Eno CC; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Academic Pathology, Cedars-Sinai Medical Center, Los Angeles, California., Ji J; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, University of Southern California, Los Angeles, California., Santani A; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Bayrak-Toydemir P; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah., Wachsmann M; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas; VA North Texas Health Care System, Dallas, Texas., Wain KE; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; GeneDx, LLC, Gaithersburg, Maryland., Mao R; Whole Exome Sequencing Standards Working Group of the Clinical Practice Committee, Association for Molecular Pathology, Rockville, Maryland; Department of Pathology, University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah. Electronic address: rong.mao@aruplab.com.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Mar; Vol. 26 (3), pp. 159-167. Date of Electronic Publication: 2023 Dec 14.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Pathology, Molecular* , Counselors*, Humans ; United States ; Pathologists ; Surveys and Questionnaires

المؤلفون: Morales A; Division of Human Genetics, The Ohio State University, Columbus, Ohio; Invitae Corp., San Francisco, California. Electronic address: ana.morales@invitae.com., Ing A; Laboratory for Molecular Medicine, Partners HealthCare, Boston, Massachusetts., Antolik C; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California., Austin-Tse C; Laboratory for Molecular Medicine, Partners HealthCare, Boston, Massachusetts; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts., Baudhuin LM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Bronicki L; Department of Genetics, CHEO, Ottawa, Ontario, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada., Cirino A; Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts., Hawley MH; Laboratory for Molecular Medicine, Partners HealthCare, Boston, Massachusetts., Fietz M; PathWest Laboratory Medicine, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia; Illumina Inc., Scoresby, Victoria, Australia., Garcia J; Invitae Corp., San Francisco, California., Ho C; Cardiovascular Division, Departments of Medicine and Radiology, Brigham and Women's Hospital, Boston, Massachusetts., Ingles J; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia., Jarinova O; Department of Genetics, CHEO, Ottawa, Ontario, Canada; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada., Johnston T; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California., Kelly MA; Geisinger, Danville, Pennsylvania., Kurtz CL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina., Lebo M; Laboratory for Molecular Medicine, Partners HealthCare, Boston, Massachusetts; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts., Macaya D; GeneDx, Inc, Gaithersburg, Maryland., Mahanta L; Laboratory for Molecular Medicine, Partners HealthCare, Boston, Massachusetts., Maleszewski J; Harvard Medical School, Boston, Massachusetts; Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota., Manrai AK; Computational Health Informatics Program, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts., Murray M; GeneDx, Inc, Gaithersburg, Maryland., Richard G; GeneDx, Inc, Gaithersburg, Maryland., Semsarian C; Cardiovascular Division, Departments of Medicine and Radiology, Brigham and Women's Hospital, Boston, Massachusetts., Thomson KL; Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom., Winder T; Invitae Corp., San Francisco, California., Ware JS; National Heart and Lung Institute, Imperial College London, London, United Kingdom; Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, London, United Kingdom; MRC London Institute of Medical Sciences, Imperial College London, London, United Kingdom., Hershberger RE; Division of Human Genetics, The Ohio State University, Columbus, Ohio; Division of Cardiovascular Medicine, The Ohio State University, Columbus, Ohio., Funke BH; Laboratory for Molecular Medicine, Partners HealthCare, Boston, Massachusetts; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts., Vatta M; Invitae Corp., San Francisco, California; Departments of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

مؤلفون مشاركون: ClinGen Cardiovascular Clinical Domain Working Group, Cardiomyopathy Variant Curation Expert Panel

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2021 May; Vol. 23 (5), pp. 589-598. Date of Electronic Publication: 2021 Feb 22.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Databases, Genetic* , Genetic Variation* , Genome, Human*, Cardiomyopathy, Hypertrophic/*genetics , Genetic Testing/*methods , Genomics/*methods, Adult ; Female ; Humans ; Male ; Middle Aged ; Phenotype ; Retrospective Studies

المؤلفون: Milko LV; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA. laura_milko@med.unc.edu., Funke BH; Veritas Genetics, Danvers, Massachusetts, USA.; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.; Partners HealthCare Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA., Hershberger RE; Divisions of Human Genetics and Cardiovascular Medicine, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Azzariti DR; Partners HealthCare Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA., Lee K; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Riggs ER; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA., Rivera-Munoz EA; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Weaver MA; American College of Medical Genetics and Genomics, Bethesda, Maryland, USA., Niehaus A; Medical University of South Carolina, Charleston, South Carolina, USA., Currey EL; National Human Genome Research Institute (NHGRI), NIH, Bethesda, Maryland, USA., Craigen WJ; Baylor College of Medicine, Houston, Texas, USA., Mao R; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; Molecular Genetics and Genomics in ARUP Laboratories, Salt Lake City, Utah, USA., Offit K; Clinical Genetics Service, Memorial Sloan Kettering Cancer Center, New York, New York, USA., Steiner RD; Departments of Pediatrics and Genetics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Martin CL; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA., Rehm HL; Department of Pathology, Harvard Medical School, Boston, Massachusetts, USA.; Partners HealthCare Laboratory for Molecular Medicine, Cambridge, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Watson MS; Autism & Developmental Medicine Institute, Geisinger Health System, Danville, Pennsylvania, USA., Ramos EM; National Human Genome Research Institute (NHGRI), NIH, Bethesda, Maryland, USA., Plon SE; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Berg JS; Department of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Apr; Vol. 21 (4), pp. 987-993. Date of Electronic Publication: 2018 Sep 05.

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

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: Databases, Genetic*, Genetics, Medical/*trends , Genome, Human/*genetics , Genomics/*trends, Genetic Variation/genetics ; Humans ; Information Dissemination ; Precision Medicine

المؤلفون: Ceyhan-Birsoy O; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York., Miatkowski MM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts., Hynes E; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts., Funke BH; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts., Mason-Suares H; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

المصدر: Human mutation [Hum Mutat] 2018 Jul; Vol. 39 (7), pp. 954-958. Date of Electronic Publication: 2018 May 16.

نوع المنشور: Journal Article

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: Cardiomyopathy, Dilated/*genetics , Cardiomyopathy, Hypertrophic/*genetics , Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics , Proto-Oncogene Proteins B-raf/*genetics , SOS1 Protein/*genetics, Adolescent ; Aged, 80 and over ; Cardiomyopathy, Dilated/epidemiology ; Cardiomyopathy, Dilated/physiopathology ; Cardiomyopathy, Hypertrophic/epidemiology ; Cardiomyopathy, Hypertrophic/physiopathology ; DNA Copy Number Variations/genetics ; Female ; Genetic Predisposition to Disease ; Germ-Line Mutation/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Male ; Middle Aged ; Mitogen-Activated Protein Kinase Kinases/genetics ; Noonan Syndrome/genetics ; Noonan Syndrome/physiopathology ; Signal Transduction

المؤلفون: Kaul KL; Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Evanston, IL, USA., Sabatini LM; Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Evanston, IL, USA., Tsongalis GJ; Laboratory for Clinical Genomics and Advanced Technology, Department of Pathology, Dartmouth Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, USA.; Laboratory Medicine, Dartmouth Hitchcock Medical Center and Norris Cotton Cancer Center, Lebanon, NH, USA., Caliendo AM; Department of Medicine, Alpert Medical School of Brown University, Providence, RI, USA., Olsen RJ; Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USA., Ashwood ER; GeneDx, Gaithersburg, MD, USA., Bale S; Department of Pathology, University of Colorado, Aurora, CO, USA., Benirschke R; Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Evanston, IL, USA., Carlow D; Department of Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Funke BH; Laboratory for Molecular Medicine, Massachusetts General Hospital, Boston, MA, USA., Grody WW; Departments of Pathology and Laboratory Medicine, Pediatrics and Human Genetics, UCLA School of Medicine, Los Angeles, CA, USA., Hayden RT; Department of Pathology, St. Jude Children's Research Hospital, Memphis, TN, USA., Hegde M; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA., Lyon E; Pathology Department, University of Utah School of Medicine/ARUP Laboratories, Salt Lake City, UT, USA., Murata K; Department of Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Pessin M; Department of Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Press RD; Department of Pathology and Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA., Thomson RB; Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Evanston, IL, USA.

المصدر: Academic pathology [Acad Pathol] 2017 Jul 16; Vol. 4, pp. 2374289517708309. Date of Electronic Publication: 2017 Jul 16 (Print Publication: 2017).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101698648 Publication Model: eCollection Cited Medium: Print ISSN: 2374-2895 (Print) Linking ISSN: 23742895 NLM ISO Abbreviation: Acad Pathol Subsets: PubMed not MEDLINE

المؤلفون: Walsh R; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital and Imperial College London, London, UK.; National Heart and Lung Institute, Imperial College London, UK., Thomson KL; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK.; Radcliffe Department of Medicine, University of Oxford, Oxford, UK., Ware JS; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital and Imperial College London, London, UK.; National Heart and Lung Institute, Imperial College London, UK.; MRC Clinical Sciences Centre, Imperial College London, UK., Funke BH; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts, USA.; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA., Woodley J; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK., McGuire KJ; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK., Mazzarotto F; NIHR Royal Brompton Cardiovascular Biomedical Research Unit, Royal Brompton Hospital and Imperial College London, London, UK.; National Heart and Lung Institute, Imperial College London, UK., Blair E; Department of Clinical Genetics, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK., Seller A; Oxford Medical Genetics Laboratory, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK., Taylor JC; Oxford NIHR Biomedical Research Centre, Oxford, UK.; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Minikel EV; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, Massachusetts, USA.; Exome Aggregation Consortium (ExAC), Cambridge, Massachusetts, USA., Exome Aggregation Consortium; Exome Aggregation Consortium (ExAC), Cambridge, Massachusetts, USA., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Exome Aggregation Consortium (ExAC), Cambridge, Massachusetts, USA.; Department of Medicine, Harvard Medical School, Boston, Massachusetts, USA., Farrall M; Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Cook SA; National Heart and Lung Institute, Imperial College London, UK.; MRC Clinical Sciences Centre, Imperial College London, UK.; National Heart Centre Singapore, Singapore.; Duke-National University of Singapore, Singapore., Watkins H; Radcliffe Department of Medicine, University of Oxford, Oxford, UK.; The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Feb; Vol. 19 (2), pp. 192-203. Date of Electronic Publication: 2016 Aug 17.

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

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: Genetic Testing* , Genetic Variation*, Cardiomyopathies/*genetics , Genetic Diseases, Inborn/*genetics, Cardiomyopathies/epidemiology ; Computational Biology ; Databases, Genetic ; Exome/genetics ; Genetic Diseases, Inborn/physiopathology ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Exome Sequencing

المؤلفون: Kudalkar EM; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts., Almontashiri NA; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology/MGH, Harvard Medical School, Boston, Massachusetts; Center for Genetics and Inherited Diseases, Taibah University, Almadinah Almunwarah, Kingdom of Saudi Arabia., Huang C; SeraCare Life Sciences Inc., Milford, Massachusetts., Anekella B; SeraCare Life Sciences Inc., Milford, Massachusetts., Bowser M; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts., Hynes E; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts., Garlick R; SeraCare Life Sciences Inc., Milford, Massachusetts., Funke BH; Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge, Massachusetts; Department of Pathology/MGH, Harvard Medical School, Boston, Massachusetts. Electronic address: bfunke@partners.org.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2016 Nov; Vol. 18 (6), pp. 882-889. Date of Electronic Publication: 2016 Sep 15.

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

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: High-Throughput Nucleotide Sequencing*/methods , High-Throughput Nucleotide Sequencing*/standards , Reference Standards*, Cardiomyopathy, Hypertrophic/*diagnosis , Cardiomyopathy, Hypertrophic/*genetics, Alleles ; Gene Frequency ; Genetic Markers ; Genetic Testing/methods ; Genetic Testing/standards ; Genetic Variation ; Humans ; Mutation