ArticleCirculation. Cardiovascular genetics2017
Novel Mutation in
Open access · diamondAbstract read
In one paragraph
Article in Circulation. Cardiovascular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
0numbers the graph read from it
0cells of the map it votes in
42citing papers in PubMed
5.5field-weighted citation impact, top 3% of its field
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
42 citing papers in PubMed, 80 citations in OpenAlex.
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Authors and funding
17 authors at 6 institutions in 2 countries.
Nathan R TuckerFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Micheal A McLellanFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Dongjian HuFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Jiangchuan YeFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Victoria A ParsonsFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Robert W MillsFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Sebastian ClaussFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Elena DolmatovaFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Marisa A SheaFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
David J MilanFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Nandita S ScottFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Mark LindsayFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Steven A LubitzFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Ibrahim J DomianFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
James R StoneFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Honghuang LinFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.).
Patrick T EllinorFrom the Cardiovascular Research Center, Massachusetts General Hospital, Charlestown (N.R.T., M.A.M., D.H., J.Y., V.A.P., R.W.M., S.C., E.D., D.J.M., M.L., S.A.L., I.J.D., P.T.E.); Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA (N.R.T., J.Y., V.A.P., S.A.L., H.L., P.T.E.); Department of Medicine I, Klinikum Grosshadern, University of Munich (LMU), Germany (S.C.); German Centre for Cardiovascular Research, Partner site Munich, Germany (S.C.); Division of Cardiology (M.A.S., D.J.M., N.S.S., M.L., S.A.L., I.J.D., P.T.E.) and Department of Pathology, Center for Systems Biology (J.R.S.), Massachusetts General Hospital, Boston; and Computational Biomedicine Section, Department of Medicine, Boston University School of Medicine, MA (H.L.). ellinor@mgh.harvard.edu.
German Centre for Cardiovascular Research · DEBroad Institute · USLMU Klinikum · DELudwig-Maximilians-Universität München · DEMassachusetts General Hospital · USCenter for Systems Biology · US
Funding
IDENTIFICATION OF COMMON GENETIC VARIANTS FOR ATRIAL FIBRILLATION AND PR INTERVALR01HL092577 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2009 to 2025
$20.6MMULTIDISCIPLINARY RESEARCH TRAINING IN CARDIOLOGYT32HL007208 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI Patrick Thomas Ellinor, David E Sosnovik · 1985 to 2026
$16.1MAFGen Consortium: Atrial Fibrillation Genomics to Functional AnalysesR01HL128914 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI BENJAMIN, EMELIA J., ELLINOR, PATRICK THOMAS · 2015 to 2018
$3.1MThe Role of Cardiomyocyte Polarity in Cardiac MorphogenesisR01HL130391 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI DOMIAN, IBRAHIM J · 2016 to 2019
$1.7MMentoring in Arrhythmia ResearchK24HL105780 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2011 to 2020
$1.2MAtrial Fibrillation: Bridging genetic discovery and clinical associationsK23HL114724 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI LUBITZ, STEVEN A · 2013 to 2017
$893kNHLBI NIH HHS K23 HL114724NHLBI NIH HHS K24 HL105780NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL128914NHLBI NIH HHS R01 HL130391NHLBI NIH HHS T32 HL007208
Abstract
backgroundRestrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes. METHODS AND
resultsWe evaluated 8 family members across 4 generations by history, physical examination, electrocardiography, and echocardiography. Affected individuals presented with a pleitropic syndrome of progressive RCM, atrioventricular septal defects, and a high prevalence of atrial fibrillation. Exome sequencing of 5 affected members identified a single novel missense variant in a highly conserved residue of FLNC (filamin C; p.V2297M).
conclusionWe have identified a novel variant in
Indexed as
Genetic Predisposition to DiseaseAdultAgedAmino Acid SequenceBase SequenceCardiomyopathy, RestrictiveFamilyFemaleFilaminsHumansMaleMiddle AgedMutationPhenotypeFilaminsFLNC protein, humanatrial fibrillationcardiomyopathy, restrictivemutationstem cellsventricular function
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