Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients

Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy

(2020) Christopher N. Toepfer et al.   CIRCULATION

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

SarcTrack: An Adaptable Software Tool for Efficient Large-Scale Analysis of Sarcomere Function in hiPSC-Cardiomyocytes

(2019) Christopher N Toepfer et al.   CIRCULATION RESEARCH

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

(2018) Nicola Whiffin et al.   GENETICS IN MEDICINE

Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders

(2018) Yasmin Bylstra et al.   GENETICS IN MEDICINE

A novel TNNI3 gene mutation (c.235C>T/ p.Arg79Cys) found in a thirty-eight-year-old women with hypertrophic cardiomyopathy

(2018) Qin Tao et al.   Open Life Sciences

Using high-resolution variant frequencies to empower clinical genome interpretation

(2017) Nicola Whiffin et al.   GENETICS IN MEDICINE

Genomic translational research: Paving the way to individualized cardiac functional analyses and personalized cardiology

(2017) Ares Pasipoularides   INTERNATIONAL JOURNAL OF CARDIOLOGY

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

(2017) Tin Aung et al.   NATURE GENETICS

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

(2017) Sheng Chih Jin et al.   NATURE GENETICS

Nueva mutación fundadora en MYBPC3: comparación fenotípica con la mutación de MYBPC3 más frecuente en España

(2017) María Sabater-Molina et al.   REVISTA ESPANOLA DE CARDIOLOGIA

Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic CardiomyopathyCLINICAL PERSPECTIVE

(2017) Samantha Barratt Ross et al.   Circulation-Cardiovascular Genetics

11,670 whole-genome sequences representative of the Han Chinese population from the CONVERGE project

(2017) Na Cai et al.   Scientific Data

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

(2016) Roddy Walsh et al.   GENETICS IN MEDICINE

Human genetic variation database, a reference database of genetic variations in the Japanese population

(2016) Koichiro Higasa et al.   JOURNAL OF HUMAN GENETICS

Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes

(2016) Chee Jian Pua et al.   Journal of Cardiovascular Translational Research

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

Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan

(2015) Kuan-Rau Chiou et al.   Journal of Cardiology

ClinGen — The Clinical Genome Resource

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

Nationwide Study on Hypertrophic Cardiomyopathy in Iceland

(2014) Berglind Adalsteinsdottir et al.   CIRCULATION

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

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

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

(2011) Soumya Raychaudhuri et al.   NATURE GENETICS

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

(2009) Perundurai S Dhandapany et al.   NATURE GENETICS