Evidence map›Paper›PMID 32885985›Full record

ArticleCirculation. Genomic and precision medicine2020

Founder Mutation in N Terminus of Cardiac Troponin I Causes Malignant Hypertrophic Cardiomyopathy.

Akl C Fahed, Georges Nemer, Fadi F Bitar, Samir Arnaout, Antoine B Abchee, Manal Batrawi, Athar Khalil, Ossama K Abou Hassan, Steven R DePalma, Barbara McDonough and 4 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

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 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.3field-weighted citation impact, top 17% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Review
  3. Molecular mechanisms and intervention approaches of heart failure (Review).International journal of molecular medicine · 2025
    Review
  4. Article
  5. Review
  6. Review
  7. Article
  8. Myocarditis in COVID-19: a focus on the pediatric population.American journal of cardiovascular disease · 2023
    Review
  9. Article
  10. Review
  11. Article
  12. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors at 7 institutions in 5 countries.

Akl C Fahed *Division of Cardiology, Department of Medicine, Center of Genomic Medicine, Massachusetts General Hospital (A.C.F.), Harvard Medical School, Boston.
Georges Nemer *Department of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).
Fadi F BitarDepartment of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).
Samir ArnaoutCardiology Division (S.A., A.B.A., O.A.-H.), American University of Beirut Medical Center, Lebanon.
Antoine B AbcheeCardiology Division (S.A., A.B.A., O.A.-H.), American University of Beirut Medical Center, Lebanon.
Manal BatrawiDepartment of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).
Athar KhalilDepartment of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).
Ossama K Abou HassanDepartment of Biochemistry and Molecular Genetics, American University of Beirut, Lebanon (G.N., F.F.B., M.B., A.K., O.A.-H.).
Steven R DePalmaDepartment of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston.
Barbara McDonoughDepartment of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston.
Mariam T ArabiDepartment of Pediatrics (F.F.B., M.T.A.), American University of Beirut Medical Center, Lebanon.
James S WareNational Heart and Lung Institute, Imperial College London, Royal Brompton Hospital (J.S.W.).
Jonathan G SeidmanDepartment of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston.
Christine E SeidmanDepartment of Genetics (S.R.D., B.M., J.G.S., C.E.S.), Harvard Medical School, Boston.
American University of Beirut Medical Center · LBHarvard University · USAmerican University of Beirut · LBBroad Institute · USHamad bin Khalifa University · QAHoward Hughes Medical Institute · USRoyal Brompton Hospital · GB

Funding

Medical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0M
Howard Hughes Medical InstituteMedical Research Council MC_UP_1102/20NIGMS NIH HHS T32 GM007753Wellcome Trust 107469Wellcome Trust 107469/Z/15/Z
6 · The paper itself

Abstract

backgroundCardiac troponin I (

methodsWe sequenced 29 families with hypertrophic cardiomyopathy enriched for pediatric-onset disease and identified 5 families with the

resultsAll 5 families with

conclusionsThe

Indexed as

AdolescentAdultCardiomyopathy, HypertrophicChildDeath, Sudden, CardiacEchocardiographyFemaleFounder EffectHumansMaleMiddle AgedMyocardiumPedigreePhenotypeProtein DomainsTroponin ITroponin Icardiomyopathy, hypertrophicdeath, sudden, cardiacdiseasemutationrisk

Identifiers

PMID32885985
PMCPMC7676616
OpenAlexW3083590376

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.