Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy

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-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease

(2018) Marina V. Shulskaya et al.   Frontiers in Aging Neuroscience

CADD: predicting the deleteriousness of variants throughout the human genome

(2018) Philipp Rentzsch et al.   NUCLEIC ACIDS RESEARCH

Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly

(2017) Valerie A. Schneider et al.   GENOME RESEARCH

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

ClinVar: improving access to variant interpretations and supporting evidence

(2017) Melissa J Landrum et al.   NUCLEIC ACIDS RESEARCH

Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations

(2017) Bei Zhao et al.   Experimental and Therapeutic Medicine

Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation SequencingCLINICAL PERSPECTIVE

(2017) Charlotte Burns et al.   Circulation-Cardiovascular Genetics

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

(2016) Massimiliano Cecconi et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Challenges in the Diagnosis of Anderson-Fabry Disease

(2016) Ali J. Marian   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy

(2016) Michael A. Burke et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy

(2016) Sinead L. Murphy et al.   Journal of Cardiovascular Translational Research

Genetic advances in sarcomeric cardiomyopathies: state of the art

(2015) C. Y. Ho et al.   CARDIOVASCULAR RESEARCH

Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group

(2015) Andrey S. Glotov et al.   CLINICA CHIMICA ACTA

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

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

(2015) Diego García-Giustiniani et al.   HEART

New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

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

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

The BioMart community portal: an innovative alternative to large, centralized data repositories

(2015) Damian Smedley et al.   NUCLEIC ACIDS RESEARCH

Private Mitochondrial DNA Variants in Danish Patients with Hypertrophic Cardiomyopathy

(2015) Christian M. Hagen et al.   PLoS One

Prognostic Value of Quantitative Contrast-Enhanced Cardiovascular Magnetic Resonance for the Evaluation of Sudden Death Risk in Patients With Hypertrophic Cardiomyopathy

(2014) Raymond H. Chan et al.   CIRCULATION

Does p.Q247X in TRIM63 Cause Human Hypertrophic Cardiomyopathy?

(2014) Rafał Płoski et al.   CIRCULATION RESEARCH

Sarcomere Mutation-Specific Expression Patterns in Human Hypertrophic Cardiomyopathy

(2014) A. S. Helms et al.   Circulation-Cardiovascular Genetics

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

(2014) Jamie D. Kapplinger et al.   Journal of Cardiovascular Translational Research

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy

(2013) Julia Daher Carneiro Marsiglia et al.   AMERICAN HEART JOURNAL

Dramatically Different Phenotypic Expressions of Hypertrophic Cardiomyopathy in Male Cousins Undergoing Cardiac Transplantation With Identical Disease-Causing Gene Mutation

(2013) William C. Roberts et al.   AMERICAN JOURNAL OF CARDIOLOGY

Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene

(2013) Hana Hartmannova et al.   Circulation-Cardiovascular Genetics

Interpreting Secondary Cardiac Disease Variants in an Exome Cohort

(2013) David Ng et al.   Circulation-Cardiovascular Genetics

Genetics of hypertrophic cardiomyopathy in Norway

(2013) K.E. Berge et al.   CLINICAL GENETICS

Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

(2013) Jodie Ingles et al.   GENETICS IN MEDICINE

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing

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

Human Molecular Genetic and Functional Studies Identify TRIM63 , Encoding Muscle RING Finger Protein 1, as a Novel Gene for Human Hypertrophic Cardiomyopathy

(2012) Suet Nee Chen et al.   CIRCULATION RESEARCH

Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy

(2012) Stephen P. Page et al.   Circulation-Cardiovascular Genetics

Uptake of Cardiac Screening and Genetic Testing Among Hypertrophic and Dilated Cardiomyopathy Families

(2012) Erin M. Miller et al.   Journal of Genetic Counseling

Genetics of Hypertrophic Cardiomyopathy After 20 Years

(2012) Barry J. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Hypertrophic cardiomyopathy

(2012) Barry J Maron et al.   LANCET

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

(2012) Dulce Brito et al.   Revista Portuguesa de Cardiologia

A myomesin mutation associated with hypertrophic cardiomyopathy deteriorates dimerisation properties

(2011) Romy Siegert et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Prevalence and Distribution of Sarcomeric Gene Mutations in Japanese Patients With Familial Hypertrophic Cardiomyopathy

(2011) Haruna Otsuka et al.   CIRCULATION JOURNAL

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

(2011) Stephan Waldmüller et al.   EUROPEAN JOURNAL OF HEART FAILURE

The Gln1233ter mutation of the myosin binding protein C gene: Causative mutation or innocent polymorphism in patients with hypertrophic cardiomyopathy?

(2011) Tímea Tóth et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

(2011) S. Fokstuen et al.   JOURNAL OF MEDICAL GENETICS

Espectro mutacional de los genes sarcoméricos MYH7, MYBPC3, TNNT2, TNNI3 y TPM1 en pacientes con miocardiopatía hipertrófica

(2011) Mónica García-Castro et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

(2010) Gilles Millat et al.   European Journal of Medical Genetics

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

(2009) Philipp Ehlermann et al.   BMC Medical Genetics

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

(2009) Juan Pablo Kaski et al.   Circulation-Cardiovascular Genetics

The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening

(2009) Imke Christiaans et al.   EUROPEAN HEART JOURNAL

Cardiac Ankyrin Repeat Protein Gene (ANKRD1) Mutations in Hypertrophic Cardiomyopathy

(2009) Takuro Arimura et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

(2008) Siv Fokstuen et al.   HUMAN MUTATION

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

(2008) Paal Skytt Andersen et al.   HUMAN MUTATION