ArticleHeart (British Cardiac Society)2020
Mutations in
Open access · hybridAbstract readMulticenter Study
In one paragraph
Article in Heart (British Cardiac Society), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed
3.9field-weighted citation impact, top 5% of its field
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
28 citing papers in PubMed, 50 citations in OpenAlex.
- Emerging Role and Potential Therapeutic Application of TRIM Proteins in Cardiovascular Diseases.Biomolecules · 2026Review
- Single-Cell Multi-Omics Profiling of Human Septal Myectomy Tissue: Toward Precision Medicine in Obstructive Hypertrophic Cardiomyopathy.Journal of personalized medicine · 2026Review
- Hypertrophic cardiomyopathy: comprehensive insights into pathogenic genes and genotype-phenotype associations.Frontiers in cell and developmental biology · 2026Review
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Single-Cell Transcriptomics of Human Acute Myocardial Infarction Reveals Oxidative Stress-Associated Cardiomyocyte Subpopulations and Candidate Predictive Signatures.Antioxidants (Basel, Switzerland) · 2025Article
- Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients.Journal of the American Heart Association · 2025Article
- Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.Circulation · 2025Article
- HCM-Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure.International journal of molecular sciences · 2025Article
- Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.International journal of molecular sciences · 2025Article
- Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.International journal of molecular sciences · 2024Review
- Genetics of hypertrophic cardiomyopathy: established and emerging implications for clinical practice.European heart journal · 2024Review
- Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.European heart journal · 2023Article
- Double Heterozygous Pathogenic Variants in theGenes · 2023Article
- A knowledge graph approach to predict and interpret disease-causing gene interactions.BMC bioinformatics · 2023Article
- Hypertrophic Cardiomyopathy: Genetic Foundations, Outcomes, Interconnections, and Their Modifiers.Medicina (Kaunas, Lithuania) · 2023Review
- Loss of MuRF1 in Duroc pigs promotes skeletal muscle hypertrophy.Transgenic research · 2023Article
- Cardiac-specific Trim44 knockout in rat attenuates isoproterenol-induced cardiac remodeling via inhibition of AKT/mTOR pathway.Disease models & mechanisms · 2023Article
- Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.Nature cardiovascular research · 2023Article
- Advanced searching for hypertrophic cardiomyopathy heritability in real practice tomorrow.Frontiers in cardiovascular medicine · 2023Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 14 institutions in 5 countries.
Joel Salazar-MendiguchíaCardiovascular Genetics, Health in Code, A Coruna, Spain joel.salazar@healthincode.com.ORCID 0000-0003-2171-8508
Juan Pablo OchoaCardiovascular Genetics, Health in Code, A Coruna, Spain.
Julian Palomino-DozaInherited Cardiac Diseases Unit. Cardiology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
Fernando DomínguezCentro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto Carlos III, Madrid, Spain.
Carles Díez-LópezHeart Failure and Cardiomyopathy Unit. Cardiology Department, Hospital Universitario de Bellvitge, Barcelona, Spain.
Mohammed AkhtarCentre for Inherited Cardiac Diseases. Barts Heart Centre, Saint Bartholomew's Hospital, London, United Kingdom.
Soraya Ramiro-LeónGenetics Department, Hospital Universitario de Getafe, Getafe, Spain.
María M ClementeCardiology Department, Hospital Virgen del Puerto, Plasencia, Spain.
Antonia Pérez-CejasMolecular Diagnostics Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain.
María RobledoFamilial Cardiomyopathy Unit. Cardiology Department, Hospital Txagorritxu, Vitoria-Gasteiz, Spain.
Iria Gómez-DíazCardiovascular Genetics, Health in Code, A Coruna, Spain.
María Luisa Peña-PeñaCardiology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.
Vicente ClimentCardiology Department, Hospital Universitario General de Alicante, Alicante, Spain.
Francisco Salmerón-MartínezCardiology Department, Complejo Hospitalario Universitario de Albacete, Albacete, Spain.
Celestino HernándezCardiology Department, Hospital Universitario Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Spain.
Pablo E García-GranjaCardiology Department. Cardiac Sciences Institute (ICICOR), Hospital Clínico Universitario de Valladolid, Valladolid, Spain.ORCID 0000-0002-0750-1567
M Victoria MogollónCardiology Department, Hospital San Pedro de Alcántara, Cáceres, Spain.
Ivonne Cárdenas-ReyesCardiovascular Genetics, Health in Code, A Coruna, Spain.
Marcos CicerchiaCardiovascular Genetics, Health in Code, A Coruna, Spain.
Diego García-GiustinianiCardiovascular Genetics, Health in Code, A Coruna, Spain.
Arsonval LamounierCardiovascular Genetics, Health in Code, A Coruna, Spain.
Belén Gil-FournierGenetics Department, Hospital Universitario de Getafe, Getafe, Spain.
Felícitas Díaz-FloresMolecular Diagnostics Unit, Hospital Universitario de Canarias, Santa Cruz de Tenerife, Spain.
Rafael SalgueroInherited Cardiac Diseases Unit. Cardiology Department, Hospital Universitario 12 de Octubre, Madrid, Spain.
Luis SantoméCardiovascular Genetics, Health in Code, A Coruna, Spain.
Petros SyrrisInstitute of Cardiovascular Science, University College London, London, UK.
Montse OlivéDepartment of Pathology and Neuromuscular Unit. IDIBELL, Hospital Universitario de Bellvitge, Barcelona, Spain.
Pablo García-PavíaCentro de Investigación Biomédica en Red en Enfermedades Cardiovasculares (CIBERCV), Instituto Carlos III, Madrid, Spain.
Martín Ortiz-GengaCardiovascular Genetics, Health in Code, A Coruna, Spain.
Perry M ElliottCentre for Inherited Cardiac Diseases. Barts Heart Centre, Saint Bartholomew's Hospital, London, United Kingdom.ORCID 0000-0003-3383-3984
Lorenzo MonserratCardiovascular Genetics, Health in Code, A Coruna, Spain.
GENESCOPIC Research Group
Universidade da Coruña · ESInstitute of Cardiology · PLBellvitge University Hospital · ESHospital Universitario de Canarias · ESHospital Universitario de Getafe · ESInstituto de Salud Carlos III · ESSt Bartholomew's Hospital · GBCardiovascular Institute Hospital · JPHospital Clínico Universitario de Valladolid · ESHospital San Pedro de Alcántara · ESHospital Txagorritxu · ESHospital Universitario 12 De Octubre · ESHospital Universitario Nuestra Señora de Candelaria · ESUniversidad Francisco de Vitoria · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveUp to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies.
methods
resultsSixteen index cases with rare homozygous or compound heterozygous variants in
conclusion
Indexed as
MutationAdolescentAdultAgedAged, 80 and overCardiomyopathy, HypertrophicCase-Control StudiesChildDNA Mutational AnalysisEuropeFemaleGenetic Predisposition to DiseaseHeredityHeterozygoteHigh-Throughput Nucleotide SequencingHomozygoteMuscle ProteinsTRIM63 protein, humanTripartite Motif ProteinsUbiquitin-Protein Ligasesfamilial cardiomyopathiesgeneticshypertrophic cardiomyopathy
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC
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.