The Genetic Architecture of Hypertrophic Cardiomyopathy in Hungary: Analysis of 242 Patients with a Panel of 98 Genes

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity

(2021) Andrew R. Harper et al.   NATURE GENETICS

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

(2021) Rafik Tadros et al.   NATURE GENETICS

Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients

(2021) Julie Hathaway et al.   BMC Cardiovascular Disorders

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy

(2020) Joel Salazar-Mendiguchía et al.   HEART

Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy

(2020) Luis R. Lopes et al.   Circulation-Genomic and Precision Medicine

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy

(2020) Miruna Mihaela Micheu et al.   Diagnostics

Y-chromosomal connection between Hungarians and geographically distant populations of the Ural Mountain region and West Siberia

(2019) Helen Post et al.   Scientific Reports

CardioClassifier: disease- and gene-specific computational decision support for clinical genome interpretation

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel

(2018) Melissa A Kelly et al.   GENETICS IN MEDICINE

Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy

(2018) Richard D. Bagnall et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

(2018) Juan Pablo Ochoa et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

(2017) Roddy Walsh et al.   EUROPEAN HEART JOURNAL

Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy

(2016) Rowida Almomani et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity

(2015) Ahmed A. Alfares et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

(2015) Christopher Semsarian et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Mutation Analysis of the Main Hypertrophic Cardiomyopathy Genes Using Multiplex Amplification and Semiconductor Next-Generation Sequencing

(2014) Juan Gómez et al.   CIRCULATION JOURNAL

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

(2014) J. Martijn Bos et al.   MAYO CLINIC PROCEEDINGS

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

(2013) Luis R Lopes et al.   JOURNAL OF MEDICAL GENETICS

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

(2012) Pertti Jääskeläinen et al.   ANNALS OF MEDICINE

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

(2011) I. Christiaans* et al.   Netherlands Heart Journal