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Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales, Ana; Ing, Alexander; Antolik, Christian; Austin-Tse, Christina; Baudhuin, Linnea M; Bronicki, Lucas; Cirino, Allison; Hawley, Megan H; Fietz, Michael; Garcia, John; Ho, Carolyn; Ingles, Jodie; Jarinova, Olga; Johnston, Tami; Kelly, Melissa A; Kurtz, C Lisa; Lebo, Matt; Macaya, Daniela; Mahanta, Lisa; Maleszewski, Joseph; Manrai, Arjun K; Murray, Mitzi; Richard, Gabriele; Semsarian, Chris; Thomson, Kate L; Winder, Tom; Ware, James S; Hershberger, Ray E; Funke, Birgit H; Vatta, Matteo.
Afiliação
  • 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.
J Mol Diagn ; 23(5): 589-598, 2021 05.
Article em En | MEDLINE | ID: mdl-33631351
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Cardiomiopatia Hipertrófica / Genoma Humano / Testes Genéticos / Genômica / Bases de Dados Genéticas Tipo de estudo: Guideline / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Cardiomiopatia Hipertrófica / Genoma Humano / Testes Genéticos / Genômica / Bases de Dados Genéticas Tipo de estudo: Guideline / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Mol Diagn Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2021 Tipo de documento: Article