Evidence map›Paper›PMID 37199186›Full record

ArticleCirculation. Genomic and precision medicine2023

Genetic Burden of

Caroline Pham, Karolina Andrzejczyk, Sean J Jurgens, Ronald Lekanne Deprez, Kaylin C A Palm, Alexa M C Vermeer, Janneke Nijman, Imke Christiaans, Daniela Q C M Barge-Schaapveld, Pascal F H M van Dessel and 11 more

Open access · hybridAbstract 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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.1field-weighted citation impact, top 21% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. [Dilated cardiomyopathy and conduction disorder due toArchivos de cardiologia de Mexico · 2025
    Article
  3. AFrontiers in genetics · 2025
    Article
  4. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors at 9 institutions in 2 countries.

Caroline Pham *Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.ORCID 0000-0001-8465-2978
Karolina Andrzejczyk *Department of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.ORCID 0000-0002-9305-9612
Sean J JurgensDepartment of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.ORCID 0000-0002-1605-9782
Ronald Lekanne DeprezDepartment of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).ORCID 0000-0003-4687-0186
Kaylin C A PalmDepartment of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.
Alexa M C VermeerDepartment of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).
Janneke NijmanDepartment of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).
Imke ChristiaansDepartment of Genetics, University Medical Center Groningen, University of Groningen, the Netherlands (I.C.).ORCID 0000-0001-5799-2344
Daniela Q C M Barge-SchaapveldDepartment of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands (D.Q.C.M.B.-S.).
Pascal F H M van DesselDepartment of Cardiology, Thorax Center Twente, Medisch Spectrum Twente (MST), Enschede, the Netherlands (P.F.H.M.v.D.).
Leander BeekmanDepartment of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.
Seung Hoan ChoiDepartment of Biostatistics, Boston University, MA (S.H.C.).ORCID 0000-0002-2797-3190
Steven A LubitzCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).ORCID 0000-0002-9599-4866
Doris Skoric-MilosavljevicDepartment of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).ORCID 0000-0001-7089-3703
Lisa van den BersselaarDepartment of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands (L.v.d.B.).ORCID 0000-0002-1195-6054
Philip R JansenDepartment of Human Genetics, Amsterdam UMC location University of Amsterdam, the Netherlands (R.L.D., A.M.C.V., J.N., D.S.-M., P.R.J., E.M.L.).
Jaël S CopierDepartment of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.ORCID 0000-0002-8421-9346
Patrick T EllinorCardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.J.J., S.A.L., P.T.E.).ORCID 0000-0002-2067-0533
Arthur A M WildeDepartment of Cardiology (A.A.M.W.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.ORCID 0000-0002-0528-0852
Connie R BezzinaDepartment of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.ORCID 0000-0002-0633-3514
Elisabeth M LodderDepartment of Experimental Cardiology (C.P., K.A., S.J.J., K.C.A.P., L.B., J.S.C., C.R.B., E.M.L.), Heart Center, Amsterdam UMC location University of Amsterdam, the Netherlands.ORCID 0000-0001-6017-3796
Anna Needs Neuroblastoma Answers · USAmsterdam University Medical Centers · NLBroad Institute · USAmsterdam Neuroscience · NLBoston University · USErasmus MC · NLLeiden University Medical Center · NLMedisch Spectrum Twente · NLUniversity Medical Center Groningen · NL

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
$20.6M
Genomics of Cardiac ArrhythmiasR01HL139731 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS · 2018 to 2022
$3.3M
Using Electrocardiogram Genetics to Inform Arrhythmia RiskR01HL157635 · NHLBI · MASSACHUSETTS GENERAL HOSPITAL · PI ELLINOR, PATRICK THOMAS, MIRSHAHI, TOORAJ · 2022 to 2025
$2.9M
NHLBI NIH HHS R01 HL092577NHLBI NIH HHS R01 HL139731NHLBI NIH HHS R01 HL157635ZonMw 91718361ZonMw 91815610
6 · The paper itself

Abstract

backgroundGenetic variants in

methodsWe describe a systematic retrospective study of a cohort of patients undergoing genetic testing for cardiac arrhythmias and cardiomyopathy including

resultsWe demonstrate enrichment of rare coding

conclusionsOur findings demonstrate an increased burden of rare coding

Indexed as

Cardiomyopathy, DilatedArrhythmias, CardiacCardiac Conduction System DiseaseGenetic TestingHumansProtein Serine-Threonine KinasesRetrospective StudiesProtein Serine-Threonine KinasesTNNI3K protein, humancardiac arrhythmiasdilated cardiomyopathygeneticsphosphorylation

Identifiers

PMID37199186
PMCPMC10426786
OpenAlexW4377010829

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.