Associated Papers
Autosomal recessive hypertrophic cardiomyopathy associated with variants in TRIM63.
Bonanni F et al.
International Journal of Cardiology, 2026
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
HCM-Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure.
Chunthorng-Orn J et al.
International Journal of Molecular Sciences, 2025
Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy.
Ruhrman Shahar N et al.
Circulation. Genomic and Precision Medicine, 2025
Genetic Background and Clinical Phenotype in an Italian Cohort with Inherited Arrhythmia Syndromes and Arrhythmogenic Cardiomyopathy (ACM): A Whole-Exome Sequencing Study.
d'Apolito M et al.
International Journal of Molecular Sciences, 2025
Relationship Between Genotype Status and Clinical Outcome in Hypertrophic Cardiomyopathy.
Bonaventura J et al.
Journal of the American Heart Association, 2024
Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.
Jaouadi H et al.
Frontiers in Medicine, 2024
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.
Allouba M et al.
European Heart Journal, 2023
Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.
Chumakova OS et al.
Genes, 2023
[The levels of certain circulating microRNAs in hypertrophic cardiomyopathy are associated with echocardiographic parameters].
Pisklova MV et al.
Terapevticheskii Arkhiv, 2023
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.
Lenarduzzi S et al.
Molecular Genetics & Genomic Medicine, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
Walsh R et al.
Nature Reviews. Cardiology, 2022
Case Report: Two New Cases of Autosomal-Recessive Hypertrophic Cardiomyopathy Associated With TRIM63-Compound Heterozygous Variant.
Andreeva S et al.
Frontiers in Genetics, 2022
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.
Salazar-Mendiguchía J et al.
Heart (british Cardiac Society), 2020
Muscle RING-finger protein-1 (MuRF1) functions and cellular localization are regulated by SUMO1 post-translational modification.
Heras G et al.
Journal of Molecular Cell Biology, 2019
The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.
Bonaventura J et al.
Archives of Medical Science : Ams, 2019
Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche AE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
Murcia Pienkowski V et al.
Journal of Medical Genetics, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Alston CL et al.
American Journal of Human Genetics, 2018
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
Szczałuba K et al.
American Journal of Medical Genetics. Part A, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype.
Alston CL et al.
American Journal of Human Genetics, 2016
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Ciara E et al.
Molecular Genetics and Metabolism Reports, 2016
The Increasing Importance of Gene-Based Analyses.
Cirulli ET
Plos Genetics, 2016
Human genotype-phenotype databases: aims, challenges and opportunities.
Brookes AJ et al.
Nature Reviews. Genetics, 2015
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
Olivé M et al.
Human Molecular Genetics, 2015
Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.
Weeke P et al.
Circulation. Cardiovascular Genetics, 2015
The role of ubiquitin ligases in cardiac disease.
Willis MS et al.
Journal of Molecular and Cellular Cardiology, 2014
Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.
Su M et al.
International Journal of Molecular Sciences, 2014
Molecular basis for the fold organization and sarcomeric targeting of the muscle atrogin MuRF1.
Franke B et al.
Open Biology, 2014
Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
Ploski R et al.
Circulation Research, 2014
Human molecular genetic and functional studies identify TRIM63, encoding Muscle RING Finger Protein 1, as a novel gene for human hypertrophic cardiomyopathy.
Chen SN et al.
Circulation Research, 2012
Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy.
Jokela M et al.
Journal of Neuromuscular Diseases, 0