The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction

(2020) Peter Marstrand et al.   CIRCULATION

When genetic burden reaches threshold

(2020) Roddy Walsh et al.   EUROPEAN HEART JOURNAL

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

(2020) Massimiliano Lorenzini et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

(2019) Roddy Walsh et al.   Genome Medicine

First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy

(2018) Alexandre Janin et al.   GENE

Hypertrophic Cardiomyopathy

(2018) Jeffrey B. Geske et al.   JACC-Heart Failure

Clinical Course and Management of Hypertrophic Cardiomyopathy

(2018) Barry J. Maron   NEW ENGLAND JOURNAL OF MEDICINE

Genetic Testing and Counseling for Hypertrophic Cardiomyopathy

(2018) Allison L. Cirino et al.   CARDIOLOGY CLINICS

When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies

(2017) Mehroz Ehsan et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Muscle LIM Protein: Master regulator of cardiac and skeletal muscle functions

(2015) Elizabeth Vafiadaki et al.   GENE

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

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment

(2013) Jipin Das K et al.   GENETICS IN MEDICINE

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort

(2012) Susana Santos et al.   BMC Medical Genetics

MLP (muscle LIM protein) as a stress sensor in the heart

(2011) Byambajav Buyandelger et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest doubleheterozygosity?

(2010) I. A. W. van Rijsingen et al.   Netherlands Heart Journal

Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy

(2008) Christian Geier et al.   HUMAN MOLECULAR GENETICS