FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations

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

Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy

(2018) Hao Cui et al.   Molecular Genetics & Genomic Medicine

Novel Genetic Triggers and Genotype–Phenotype Correlations in Patients With Left Ventricular NoncompactionCLINICAL PERSPECTIVE

(2017) Karol Miszalski-Jamka et al.   Circulation-Cardiovascular Genetics

Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy PatientsCLINICAL PERSPECTIVE

(2017) Juan Gómez et al.   Circulation-Cardiovascular Genetics

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases

(2016) Yigal M. Pinto et al.   EUROPEAN HEART JOURNAL

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C

(2016) Eyal Reinstein et al.   EUROPEAN 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

Mutations inFLNCare Associated with Familial Restrictive Cardiomyopathy

(2016) Andreas Brodehl et al.   HUMAN MUTATION

Genetic basis of dilated cardiomyopathy

(2016) Alexandra Pérez-Serra et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

(2016) Martín F. Ortiz-Genga et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

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

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy

(2014)   EUROPEAN HEART JOURNAL

Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy

(2014) Rafael Valdés-Mas et al.   Nature Communications

Filamin C-related myopathies: pathology and mechanisms

(2012) Dieter O. Fürst et al.   ACTA NEUROPATHOLOGICA

Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro

(2011) Misato Fujita et al.   DEVELOPMENTAL BIOLOGY