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Genetic control of mRNA splicing as a potential mechanism for incomplete penetrance of rare coding variants.
Einson, Jonah; Glinos, Dafni; Boerwinkle, Eric; Castaldi, Peter; Darbar, Dawood; de Andrade, Mariza; Ellinor, Patrick; Fornage, Myriam; Gabriel, Stacey; Germer, Soren; Gibbs, Richard; Hersh, Craig P; Johnsen, Jill; Kaplan, Robert; Konkle, Barbara A; Kooperberg, Charles; Nassir, Rami; Loos, Ruth J F; Meyers, Deborah A; Mitchell, Braxton D; Psaty, Bruce; Vasan, Ramachandran S; Rich, Stephen S; Rienstra, Michael; Rotter, Jerome I; Saferali, Aabida; Shoemaker, Moore Benjamin; Silverman, Edwin; Smith, Albert Vernon; Mohammadi, Pejman; Castel, Stephane E; Iossifov, Ivan; Lappalainen, Tuuli.
Afiliação
  • Einson J; Department of Biomedical Informatics, Columbia University, New York, NY 10027, USA.
  • Glinos D; New York Genome Center, New York, NY 10013, USA.
  • Boerwinkle E; New York Genome Center, New York, NY 10013, USA.
  • Castaldi P; School of Public Health, University of Texas Health at Houston, Houston, TX 77030, USA.
  • Darbar D; Department of Medicine, Brigham & Women's Hospital, Boston, MA 02115, USA.
  • de Andrade M; Department of Cardiology, University of Illinois at Chicago, Chicago, IL 60607, USA.
  • Ellinor P; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, USA.
  • Fornage M; Corrigan Minehan Heart Center, Massachusetts General Hospital, Boston, MA 02114, USA.
  • Gabriel S; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health at Houston, Houston, TX 77030, USA.
  • Germer S; Broad Institute, Cambridge, MA 02142, USA.
  • Gibbs R; New York Genome Center, New York, NY 10013, USA.
  • Hersh CP; Department of Molecular and Human Genetics, Baylor College of Medicine Human Genome Sequencing Center, Houston, TX 77030, USA.
  • Johnsen J; Channing Division of Network Medicine and Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Kaplan R; Department of Hematology, University of Washington, Seattle, WA 98195, USA.
  • Konkle BA; Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
  • Kooperberg C; Department of Hematology, University of Washington, Seattle, WA 98195, USA.
  • Nassir R; Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.
  • Loos RJF; Department of Pathology, School of Medicine, Umm Al-Qura University, Mecca 24382, Saudi Arabia.
  • Meyers DA; Environmental Medicine & Public Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
  • Mitchell BD; Department of Medicine, University of Arizona, Tucson, AZ 85721, USA.
  • Psaty B; Department of Medicine, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
  • Vasan RS; Geriatrics Research and Education Clinical Center, Baltimore Veterans Administration Medical Center, Baltimore, MD 21201, USA.
  • Rich SS; Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Systems and Population Health, University of Washington, Seattle, WA 98195, USA.
  • Rienstra M; Department of Medicine, Boston University, Boston, MA 02118, USA.
  • Rotter JI; Public Health Sciences, University of Virginia, Charlottesville, VA 22903, USA.
  • Saferali A; Clinical Cardiology, UMCG Cardiology, Groningen 09713, the Netherlands.
  • Shoemaker MB; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center, Torrance, CA 90502, USA.
  • Silverman E; Channing Division of Network Medicine and Division of Pulmonary and Critical Care Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
  • Smith AV; Department of Medicine, Vanderbilt University, Nashville, TN 37235, USA.
  • Mohammadi P; Department of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
  • Iossifov I; Department of Integrative Structural and Computational Biology, The Scripps Research Institute, La Jolla, CA 92037, USA.
  • Lappalainen T; New York Genome Center, New York, NY 10013, USA.
Genetics ; 224(4)2023 08 09.
Article em En | MEDLINE | ID: mdl-37348055
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Sítios de Splice de RNA Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Splicing de RNA / Sítios de Splice de RNA Idioma: En Ano de publicação: 2023 Tipo de documento: Article