ArticleCirculation. Genomic and precision medicine2020
Spatial and Functional Distribution of
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Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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66citing papers in PubMed
6.9field-weighted citation impact, top 2% of its field
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Who cites it
66 citing papers in PubMed, 93 citations in OpenAlex.
- First-in-human study of TN-201, an AAV9 gene replacement therapy in MYBPC3-associated hypertrophic cardiomyopathy: initial safety, pharmacodynamic, and imaging results from MyPEAK-1.Cardiovascular research · 2025Trial
- Mapping and rewiring thebioRxiv : the preprint server for biology · 2026Article
- Application of glutamine metabolism-related gene signatures in the non-invasive diagnosis of coronary artery disease: integrating bulk and single-cell transcriptomics.Journal of bioenergetics and biomembranes · 2026Article
- Unlocking the Regulatory Genome: Interpreting the Clinical Impact of Noncoding Variants in Genetic Cardiomyopathies.Circulation. Genomic and precision medicine · 2026Review
- Mavacamten shows broad benefit in human and mouse models of MYBPC3-related hypertrophic cardiomyopathy.Nature cardiovascular research · 2026Article
- Isolated posterior mitral leaflet elongation as a rare mechanism of systolic anterior motion in hypertrophic cardiomyopathy: a case report of successful treatment with mavacamten.European heart journal. Case reports · 2026Article
- Are clinical trajectories in obstructive hypertrophic cardiomyopathy mutation-specific? A systematic review and meta-analysis ofFrontiers in cardiovascular medicine · 2026Review
- Diffuse hypertrophic obstructive cardiomyopathy complicated by apical ventricular aneurysm and excessive left ventricular trabeculation: a case report.Frontiers in cardiovascular medicine · 2026Article
- Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.Frontiers in cell and developmental biology · 2026Review
- A case report in hypertrophic cardiomyopathy in a recreational athlete: multimodality risk assessment, genetic insights, and shared decision-making.European heart journal. Case reports · 2026Article
- Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins.Methodist DeBakey cardiovascular journal · 2026Review
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.International journal of molecular sciences · 2025Article
- Congestive Heart Failure as Initial Manifestation of Biventricular Arrhythmogenic Cardiomyopathy With MYBPC3 and DSG2 Variants.JACC. Case reports · 2025Article
- A combined genomic arrhythmia propensity score delineates cumulative risk.Cell reports. Medicine · 2025Article
- Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts.medRxiv : the preprint server for health sciences · 2025Article
- MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.European journal of human genetics : EJHG · 2025Article
- Missense variants in the myosin binding domains ofbioRxiv : the preprint server for biology · 2025Article
- Genetic architecture of hypertrophic cardiomyopathy in individuals of Chinese and United Kingdom ancestry.Precision clinical medicine · 2025Article
- Hypertrophic cardiomyopathy.Nature reviews. Disease primers · 2025Review
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors at 15 institutions in 6 countries.
Adam S HelmsCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
Andrea D ThompsonCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
Amelia A GlazierMolecular & Integrative Physiology (A.A.G.), University of Michigan, Ann Arbor.
Neha HafeezCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
Samat KabaniCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
Juliani RodriguezCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
Jaime M YobCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
Helen WoolcockCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
Francesco MazzarottoDepartment of Experimental & Clinical Medicine, University of Florence, Italy (F.M., I.O.).
Neal K LakdawalaCardiovascular Medicine, Brigham & Women's Hospital, Harvard Medical School, Boston, MA (N.K.L., C.Y.H.).
Samuel G WittekindCincinnati Children's Hospital Medical Center, Heart Institute, Cincinnati, OH (S.G.W.).
Alexandre C PereiraHeart Institute (InCor), University of Sao Paolo Medical School, Brazil (A.C.P.).
Daniel L JacobyCardiovascular Medicine, Yale University, New Haven, CT (D.L.J.).
Steven D ColanDepartment of Cardiology, Boston Children's Hospital, MA (S.D.C.).
Euan A AshleyCenter for Inherited Heart Disease, Stanford University, CA (E.A.A.).
Sara SaberiCardiovascular Medicine (A.S.H., A.D.T., N.H., S.K., J.R., J.M.Y., H.W., S.S.), University of Michigan, Ann Arbor.
James S Ware
Jodie InglesAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., C.S.).
Christopher SemsarianAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Australia (J.I., C.S.).
Michelle MichelsDepartment of Cardiology, Erasmus Medical Center, Rotterdam, the Netherlands (M.M.).
Iacopo OlivottoDepartment of Experimental & Clinical Medicine, University of Florence, Italy (F.M., I.O.).
Carolyn Y HoCardiovascular Medicine, Brigham & Women's Hospital, Harvard Medical School, Boston, MA (N.K.L., C.Y.H.).
Sharlene M DayCardiovascular Medicine, University of Pennsylvania, Philadelphia (S.M.D.).
H3D (United States) · USBrigham and Women's Hospital · USCentenary Institute · AUAmazon (United States) · USAzienda Ospedaliero-Universitaria Careggi · ITBoston Children's Hospital · USCenter for Inherited Blood Disorders · USCincinnati Children's Hospital Medical Center · USErasmus MC · NLLung Institute · USScience Wares (United States) · USTwitter (United States) · USUniversidade de São Paulo · BRUniversity of Pennsylvania · USYale University · US
Funding
Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9MHCMR Novel Markers of Prognosis in Hypertrophic CardiomyopathyU01HL117006 · NHLBI · UNIVERSITY OF VIRGINIA · PI KRAMER, CHRISTOPHER M., NEUBAUER, STEFAN · 2013 to 2017
$14.5MTRAINING IN MOLECULAR AND CELLULAR CARDIOLOGYT32HL007853 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI David J. Pinsky · 1996 to 2026
$11.6MUsing Genetics For Early Phenotyping & Prevention of Hypertrophic CardiomyopathyP50HL112349 · NHLBI · BRIGHAM AND WOMEN'S HOSPITAL · PI HO, CAROLYN Y, SEIDMAN, CHRISTINE E · 2012 to 2017
$11.2MGenome-Engineered Stem Cell Models to Determine Disease Mechanisms in MYBPC3 Hypertrophic CardiomyopathyK08HL130455 · NHLBI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI HELMS, ADAM S · 2016 to 2020
$818kMedical Research Council MC_UP_1102/20NCATS NIH HHS UL1 TR001863NHLBI NIH HHS K08 HL130455NHLBI NIH HHS L30 HL115786NHLBI NIH HHS P50 HL112349NHLBI NIH HHS T32 HL007853NHLBI NIH HHS U01 HL117006Wellcome Trust 107469/Z/15/Z
Abstract
backgroundPathogenic variants in
methodsPatients with hypertrophic cardiomyopathy and
resultsAmong 4756 genotyped patients with hypertrophic cardiomyopathy in Sarcomeric Human Cardiomyopathy Registry, 1316 patients were identified with adjudicated pathogenic truncating (N=234 unique variants, 1047 patients) or nontruncating (N=22 unique variants, 191 patients) variants in
conclusionsTruncating variants account for 91% of
Indexed as
AdolescentAdultCardiomyopathy, HypertrophicCarrier ProteinsChildFemaleGenotypeHumansMaleMiddle AgedMyofibrilsMyosin Binding Protein CPhenotypePolymorphism, GeneticRegistriesSeverity of Illness IndexCarrier ProteinsMyosin Binding Protein Cactinsgenotypehypertrophic cardiomyopathymyosinsarcomere
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.