ArticleCirculation. Genomic and precision medicine2020
Reevaluation of the South Asian
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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 29 papers.
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29citing papers in PubMed
4.8field-weighted citation impact, top 4% of its field
What it found
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Who cites it
29 citing papers in PubMed, 41 citations in OpenAlex.
- Revisiting the Genetics of Hypertrophic Cardiomyopathy: From Sarcomeres to Polygenic Modulation and Clinical Translation.Journal of clinical medicine · 2026Review
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Hypertrophic Cardiomyopathy is a Disease of Sarcomere Proteins.Methodist DeBakey cardiovascular journal · 2026Review
- Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy.Journal of the American Heart Association · 2025Article
- Experience using conventional compared to ancestry-based population descriptors in clinical genomics laboratories.American journal of human genetics · 2025Review
- Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.European heart journal · 2024Review
- Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.European journal of human genetics : EJHG · 2023Review
- Sarcomeric gene variants among Indians with hypertrophic cardiomyopathy: A scoping review.The Indian journal of medical research · 2023Article
- Cardiovascular Disease in South Asian Immigrants: a Review of Dysfunctional HDL as a Potential Marker.Journal of racial and ethnic health disparities · 2023Review
- Identification of Two Homozygous Variants inGenes · 2023Article
- Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.Circulation. Genomic and precision medicine · 2023Article
- How should we address the inevitable harms from non-negligent variant reclassification in predictive genetic testing?Journal of genetic counseling · 2023Article
- Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.Frontiers in cardiovascular medicine · 2023Review
- The role of noncoding genetic variants in cardiomyopathy.Frontiers in cardiovascular medicine · 2023Review
- Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population.Circulation. Genomic and precision medicine · 2022Article
- Identification of an elusive spliceogenic MYBPC3 variant in an otherwise genotype-negative hypertrophic cardiomyopathy pedigree.Scientific reports · 2022Article
- Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.NPJ genomic medicine · 2022Article
- Post-mortem genetic investigation in sudden cardiac death victims: complete exon sequencing of forty genes using next-generation sequencing.International journal of legal medicine · 2022Article
- Investigating Genetic and Other Determinants of First-Onset Myocardial Infarction in Malaysia: Protocol for the Malaysian Acute Vascular Events Risk Study.JMIR research protocols · 2022Article
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 2 countries.
Andrew R HarperRadcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom (A.R.H., A.G., E.O., S.N., M.F., H.W., K.L.T.).
Michael BowmanOxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (M.B., J.B.G.H., H.S., C.C., B.C., K.M., K.S., K.L.T.).
Jesse B G HayesmooreOxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (M.B., J.B.G.H., H.S., C.C., B.C., K.M., K.S., K.L.T.).
Helen SageOxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (M.B., J.B.G.H., H.S., C.C., B.C., K.M., K.S., K.L.T.).
Silvia SalatinoWellcome Centre for Human Genetics, Oxford, United Kingdom (A.R.H., S.S., A.G., A.W., M.F., H.W., K.L.T.).
Edward BlairOxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom (E.B.).
Carolyn CampbellOxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (M.B., J.B.G.H., H.S., C.C., B.C., K.M., K.S., K.L.T.).
Bethany CurrieOxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (M.B., J.B.G.H., H.S., C.C., B.C., K.M., K.S., K.L.T.).
Anuj GoelRadcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom (A.R.H., A.G., E.O., S.N., M.F., H.W., K.L.T.).
Karen McGuireOxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (M.B., J.B.G.H., H.S., C.C., B.C., K.M., K.S., K.L.T.).
Elizabeth OrmondroydRadcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom (A.R.H., A.G., E.O., S.N., M.F., H.W., K.L.T.).
Kate SergeantOxford Medical Genetics Laboratories, Churchill Hospital, Oxford, United Kingdom (M.B., J.B.G.H., H.S., C.C., B.C., K.M., K.S., K.L.T.).
Adam WaringWellcome Centre for Human Genetics, Oxford, United Kingdom (A.R.H., S.S., A.G., A.W., M.F., H.W., K.L.T.).
Jessica WoodleyWest Midlands Regional Genetics Laboratory, Birmingham Woman's and Children's NHS Foundation Trust, Birmingham, United Kingdom (J.W.).
Christopher M KramerUniversity of Virginia Health System, Charlottesville, VA (C.M.K.).
Stefan NeubauerRadcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom (A.R.H., A.G., E.O., S.N., M.F., H.W., K.L.T.).
Martin FarrallRadcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom (A.R.H., A.G., E.O., S.N., M.F., H.W., K.L.T.).
Hugh Watkins *Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom (A.R.H., A.G., E.O., S.N., M.F., H.W., K.L.T.).
Kate L Thomson *Radcliffe Department of Medicine, University of Oxford, Oxford, United Kingdom (A.R.H., A.G., E.O., S.N., M.F., H.W., K.L.T.).
HCMR Investigators
Churchill Hospital · GBCentre for Human Genetics · GBJohn Radcliffe Hospital · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBOxford University Hospitals NHS Trust · GBUniversity of Virginia Health System · US
Funding
HCMR Novel Markers of Prognosis in Hypertrophic CardiomyopathyU01HL117006 · NHLBI · UNIVERSITY OF VIRGINIA · PI KRAMER, CHRISTOPHER M., NEUBAUER, STEFAN · 2013 to 2017
$14.5MBritish Heart Foundation RE/13/1/30181British Heart Foundation RG/18/9/33887Medical Research CouncilNHLBI NIH HHS U01 HL117006Wellcome Trust 090532/Z/09/ZWellcome Trust 203141/Z/16/Z
Abstract
backgroundThe common intronic deletion,
methodsSequence data from 2 HCM cohorts (n=5393) was analyzed to determine
resultsOur data suggest that the risk of HCM, previously attributed to
conclusionsThe
Indexed as
Base SequenceIntronsSequence DeletionAdultAgedAsiaAsian PeopleCardiomyopathy, HypertrophicCarrier ProteinsCase-Control StudiesFemaleHaplotypesHumansMaleMiddle AgedMyosin Binding Protein CCarrier ProteinsMyosin Binding Protein Cexomegenotypehaplotypeshumansintrons
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
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.