Evidence map›Paper›PMID 37671549›Full record

ArticleCirculation. Genomic and precision medicine2023

DMD-Associated Dilated Cardiomyopathy: Genotypes, Phenotypes, and Phenocopies.

Renee Johnson, Robyn Otway, Ephrem Chin, Claire Horvat, Monique Ohanian, Jon A L Wilcox, Zheng Su, Priscilla Prestes, Andrei Smolnikov, Magdalena Soka and 15 more

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

Article in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
4.0field-weighted citation impact, top 5% 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

12 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
  2. Review
  3. Recurrent nonsense p.Trp3416* variant in theJournal of neuromuscular diseases · 2026
    Article
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  5. Review
  6. Discovery ofDiagnostics (Basel, Switzerland) · 2025
    Article
  7. Review
  8. Review
  9. Methylations in dilated cardiomyopathy and heart failure.Frontiers in cardiovascular medicine · 2025
    Review
  10. Article
  11. Review
  12. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

25 authors at 9 institutions in 6 countries.

Renee JohnsonVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0002-8979-2096
Robyn OtwayVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).
Ephrem ChinDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA (E.C., S.C., M.H.).
Claire HorvatVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).
Monique OhanianVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0002-6651-0770
Jon A L WilcoxDepartment of Genetics, Harvard Medical School, Boston, MA (J.A.L.W., J.G.S., C.E.S.).
Zheng SuSchool of Biotechnology & Biomolecular Sciences, Faculty of Science (Z.S., A.S., E.C.O.), UNSW Sydney, Kensington, Australia.ORCID 0000-0002-1414-6970
Priscilla PrestesHealth Innovation & Transformation Center, Federation University Australia, Ballarat, Victoria (P.P., F.C.).ORCID 0000-0002-9034-6595
Andrei SmolnikovSchool of Biotechnology & Biomolecular Sciences, Faculty of Science (Z.S., A.S., E.C.O.), UNSW Sydney, Kensington, Australia.ORCID 0000-0003-0983-5883
Magdalena SokaVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).
Guanglan GuoVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).
Emma RathVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0002-8430-5236
Samya ChakravortyDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA (E.C., S.C., M.H.).ORCID 0000-0002-0236-3281
Lukasz ChrzanowskiDepartment of Cardiology, Medical University of Lodz, Poland (L.C.).
Christopher S HaywardVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0003-4036-1890
Anne M KeoghVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0002-8788-603X
Peter S MacdonaldVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0001-5378-2825
Eleni GiannoulatouVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0002-7084-6736
Alex C Y ChangDepartment of Cardiology & Shanghai Institute of Precision Medicine, Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, China (A.C.Y.C.).ORCID 0000-0001-9441-4033
Emily C OatesSchool of Biotechnology & Biomolecular Sciences, Faculty of Science (Z.S., A.S., E.C.O.), UNSW Sydney, Kensington, Australia.ORCID 0000-0002-8836-1681
Fadi CharcharHealth Innovation & Transformation Center, Federation University Australia, Ballarat, Victoria (P.P., F.C.).
Jonathan G SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA (J.A.L.W., J.G.S., C.E.S.).ORCID 0000-0002-9082-3566
Christine E SeidmanDepartment of Genetics, Harvard Medical School, Boston, MA (J.A.L.W., J.G.S., C.E.S.).ORCID 0000-0001-6380-1209
Madhuri HegdeDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA (E.C., S.C., M.H.).
Diane FatkinVictor Chang Cardiac Research Institute, Darlinghurst (R.J., R.O., C. Horvat, M.O., M.S., G.G., E.R., C.S.H., A.M.K., P.S.M., E.G., D.F.).ORCID 0000-0002-9010-9856
Victor Chang Cardiac Research Institute · AUEmory University · USUNSW Sydney · AUFederation University · AUBrigham and Women's Hospital · USHarvard University · USHoward Hughes Medical Institute · USInstitute for Stem Cell Biology and Regenerative Medicine · INMedical University of Lodz · PL

Funding

Defining Pathways from Gene Mutation to Heart FailureR01HL080494 · NHLBI · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI CHEN, CHRISTOPHER S, SEIDMAN, CHRISTINE E · 2005 to 2024
$9.4M
Molecular Signaling in Hypertrophic CardiomyopathyR01HL084553 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2007 to 2022
$5.9M
Howard Hughes Medical InstituteNHLBI NIH HHS R01 HL080494NHLBI NIH HHS R01 HL084553
6 · The paper itself

Abstract

backgroundVariants in the

methodsGenetic testing of 40 male probands with a potential X-linked genetic cause of primary DCM was undertaken using multi-gene panel sequencing, multiplex polymerase chain reaction, and array comparative genomic hybridization. Variant location was assessed with respect to dystrophin isoform patterns and exon usage. Telomere length was evaluated as a marker of myocardial dysfunction in left ventricular tissue and blood.

resultsFour pathogenic/likely pathogenic

conclusionsPrimary genetic testing using multi-gene panels has a low yield and specific assays for structural variants are required if

Indexed as

Adaptor Proteins, Signal TransducingDystrophinAdultApoptosis Regulatory ProteinsCardiomyopathy, DilatedComparative Genomic HybridizationFemaleGenotypeHumansMalePedigreePhenotypeAdaptor Proteins, Signal TransducingApoptosis Regulatory ProteinsBAG3 protein, humanDystrophindilated cardiomyopathydystrophingeneticshearttitin

Identifiers

PMID37671549
PMCPMC10592075
OpenAlexW4386467357

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.