ArticleEuropean heart journal2025
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets.
Abstract read
In one paragraph
Article in European heart journal, 2025. 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
–field-weighted citation impact
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.
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.
Who cites it
4 citing papers in PubMed.
- Diagnostic Yield of Exome Sequencing in Patients With Congenital Heart Disease From Southern Africa.Circulation. Genomic and precision medicine · 2026Article
- Article
- Genetic diagnostic outcomes from a 10-year research programme in autism in Aotearoa New Zealand.Journal of the Royal Society of New Zealand · 2025Article
- The Genetic Factors Influencing Cardiomyopathies and Heart Failure across the Allele Frequency Spectrum.Journal of cardiovascular translational research · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors.
Alexandra ButtersGenomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.ORCID 0000-0003-1626-4302
Kate ThomsonOxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.ORCID 0000-0003-2807-3431
Franki HarringtonGenetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
Natasha HendenGenetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
Karen McGuireOxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Alicia B ByrneProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-8141-1818
Samantha BryenCentre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.ORCID 0000-0002-4140-8622
Kathryn A McGurkProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-5445-6906
Megan LeaskUniversity of Otago, Dunedin, New Zealand.
Michael J AckermanWindland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
John AthertonDepartment of Cardiology, Royal Brisbane Women's Hospital, Brisbane, Australia.
Johan M BosWindland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, USA.
Colleen CaleshuStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
Sharlene M DayDivision of Cardiovascular Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Kyla DunnStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
Ian HayesGenetic Health Service New Zealand, Northern Hub Auckland Hospital, Auckland, New Zealand.
Jimmy JuangCardiovascular Center and Division of Cardiology, National Taiwan University Hospital, Taipei, Taiwan.
Julie McGaughranGenetic Health Queensland, Brisbane, Australia.
Natalie NowakAgnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, Australia.
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, USA.
Anne RonanNewcastle Medical Genetics, University of Newcastle, NSW, Australia.
Christopher SemsarianFaculty of Medicine and Health, The University of Sydney, Sydney, Australia.
Jil C TardiffDepartment of Biomedical Engineering, University of Arizona, Tucson, AZ, USA.
Marianne TiemensmaForensic Pathology Unit, Royal Darwin Hospital, Darwin, Australia.
Tony R MerrimanUniversity of Otago, Dunedin, New Zealand.
James S WareProgram in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.ORCID 0000-0002-6110-5880
Jonathan R SkinnerThe Cardiac Inherited Disease Group, Auckland, New Zealand.
Daniel G MacArthurCentre for Population Genomics, Garvan Institute of Medical Research and UNSW, Sydney, Australia.ORCID 0000-0002-5771-2290
Owen M SiggsGenomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.ORCID 0000-0003-2840-4851
Richard D BagnallFaculty of Medicine and Health, The University of Sydney, Sydney, Australia.ORCID 0000-0002-2476-9864
Jodie InglesGenomics and Inherited Disease Program, Garvan Institute of Medical Research and University of New South Wales, 384 Victoria Street, Darlinghurst, Sydney, NSW 2010, Australia.ORCID 0000-0002-4846-7676
Funding
Integrative Approach to Divergent Remodeling in Thin Filament CardiomyopathiesR01HL075619 · NHLBI · UNIVERSITY OF ARIZONA · PI TARDIFF, JIL C · 2004 to 2025
$8.6MBritish Heart Foundation PG/14/26/30509British Medical Association FS/IPBSRF/22/27059Imperial College Biomedical Research CentreMedical Research CouncilMedical Research Declarations Form Council UK G1100449National Health and Medical Research Council #2016822National Heart Foundation of Australia Future Leader Fellowship #106732New South Wales Health Cardiovascular Disease Clinician Scientist GrantNew South Wales Health Cardiovascular Disease Senior Scientist GrantNew South Wales (NSW) Health Cardiovascular Research Capacity ProgramNHLBI NIH HHS R01 HL075619NIHRSir Jules Thorn Charitable Trust 21JTA
Abstract
PubMed holds no abstract for this paper.
Indexed as
CardiomyopathyGenomicsPopulation databases
Identifiers
What OpenQuestion holds
Textmetadata
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.