Associated Papers
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish.
Mitchell BD et al.
American Journal of Medical Genetics. Part A, 2025
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
Functional Analysis of a Homozygous MYBPC3 Null Allele in Human Pediatric Patients.
Bennett JS et al.
Circulation Research, 2025
Scaled multidimensional assays of variant effect identify sequence-function relationships in hypertrophic cardiomyopathy.
Yamamoto Y et al.
Biorxiv : the Preprint Server for Biology, 2025
Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.
van den Dolder FW et al.
Jacc. Basic to Translational Science, 2025
Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.
Scott EM et al.
Molecular Genetics and Metabolism Reports, 2024
Hypertrophic cardiomyopathy-associated mutations drive stromal activation via EGFR-mediated paracrine signaling.
Ewoldt JK et al.
Science Advances, 2024
Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.
Ribeiro M et al.
Human Cell, 2024
Aborted sudden cardiac death and a severe form of hypertrophic cardiomyopathy in a 2-year-old.
Peña F et al.
Cardiology in the Young, 2023
The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death.
Singer ES et al.
Npj Genomic Medicine, 2023
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
McGurk KA et al.
American Journal of Human Genetics, 2023
Rare Genetic Variants Associated With Sudden Cardiac Arrest in the Young: A Prospective, Population-Based Study.
Holmstrom L et al.
Circulation. Genomic and Precision Medicine, 2023
Identification of Two Homozygous Variants in MYBPC3 and SMYD1 Genes Associated with Severe Infantile Cardiomyopathy.
Szulik MW et al.
Genes, 2023
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
The «Amish» NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation.
Redin C et al.
European Journal of Medical Genetics, 2022
Determining the Likelihood of Disease Pathogenicity Among Incidentally Identified Genetic Variants in Rare Dilated Cardiomyopathy-Associated Genes.
Yang Q et al.
Journal of the American Heart Association, 2022
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner LM et al.
Journal of Personalized Medicine, 2022
Early-Onset Atrial Fibrillation and the Prevalence of Rare Variants in Cardiomyopathy and Arrhythmia Genes.
Yoneda ZT et al.
Jama Cardiology, 2021
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The burden of pathogenic variants in clinically actionable genes in a founder population.
Lynch MT et al.
American Journal of Medical Genetics. Part A, 2021
Replication Stress Response Modifies Sarcomeric Cardiomyopathy Remodeling.
Pal S et al.
Journal of the American Heart Association, 2021
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Marston NA et al.
European Heart Journal, 2021
Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy.
Liu L et al.
Stem Cell Research, 2021
Sarcomere mutation negative hypertrophic cardiomyopathy is associated with ageing and obesity.
de Feria AE et al.
Open Heart, 2021
Biochemical phenotype and its relationship to treatment in 16 individuals with PCCB c.1606A > G (p.Asn536Asp) variant propionic acidemia.
Wenger O et al.
Molecular Genetics and Metabolism, 2020
Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.
Helms AS et al.
Circulation. Genomic and Precision Medicine, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Incidental finding of type A aortic dissection in a paediatric heart transplant recipient.
D'Addese L et al.
Cardiology in the Young, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
Ingles J et al.
Circulation. Genomic and Precision Medicine, 2019
Abnormal sodium channel mRNA splicing in hypertrophic cardiomyopathy.
Noyes AM et al.
International Journal of Cardiology, 2017
Genetic Testing in Pediatric Left Ventricular Noncompaction.
Miller EM et al.
Circulation. Cardiovascular Genetics, 2017
Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.
Burns C et al.
Circulation. Cardiovascular Genetics, 2017
Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.
Ross SB et al.
Circulation. Cardiovascular Genetics, 2017
Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.
Fourey D et al.
Circulation. Cardiovascular Genetics, 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
Phenotype-Genotype Correlation in Hypertrophic Cardiomyopathy: Less Signal, More Noise?
Tower-Rader A et al.
Circulation. Cardiovascular Imaging, 2017
MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.
McNamara JW et al.
Plos One, 2017
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.
Wessels MW et al.
European Journal of Human Genetics : Ejhg, 2015
Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.
Helms AS et al.
Circulation. Cardiovascular Genetics, 2014
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.
Bos JM et al.
Mayo Clinic Proceedings, 2014
Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.
Kapplinger JD et al.
Journal of Cardiovascular Translational Research, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.
Miller EM et al.
Journal of Genetic Counseling, 2013
Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy.
De S et al.
American Heart Journal, 2011
The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.
Ripoll Vera T et al.
International Journal of Cardiology, 2010
A novel custom resequencing array for dilated cardiomyopathy.
Zimmerman RS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010