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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not expressExpand
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A Gain-of-Function TBX5 Mutation Is Associated With Atypical Holt–Oram Syndrome and Paroxysmal Atrial Fibrillation
Holt-Oram syndrome (HOS) is a heart/hand syndrome clinically characterized by upper limb and cardiac malformations. Mutations in T-box transcription factor 5 (TBX5) underlie this syndrome. Here, weExpand
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Clinical utility gene card for: hypertrophic cardiomyopathy (type 1–14)
1.2 OMIM# of the disease 192600 Cardiomyopathy, familial hypertrophic; CMH. 115195 Cardiomyopathy, familial hypertrophic, 2; CMH2. 115196 Cardiomyopathy, familial hypertrophic, 3; CMH3. 115197Expand
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Monday, 27 August 2012
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Outcome in Phospholamban R14del CarriersClinical Perspective
Background— The pathogenic phospholamban R14del mutation causes dilated and arrhythmogenic right ventricular cardiomyopathies and is associated with an increased risk of malignant ventricularExpand
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Abstract 19832: De Novo Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Are Rare and Associated With Large Deletions
Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is associated with mutations in genes encoding the cardiac desmosome. Inheritance of ARVC is autosomal dominant, however patientsExpand
Abstract 20814: High Rate of Atrial Arrhythmias in Individuals With Truncating Titin Mutations Including the First Dilated Cardiomyopathy Related Titin Founder Mutation
Introduction: Truncating TTN variants (TTNtv) play an important role in the development of dilated cardiomyopathy (DCM). We collected evidence for the pathogenicity of TTN c.59926+1G>A, studied itsExpand
Introduction to Molecular Genetics
In the last decades, molecular genetics has been rapidly integrated into the diagnostics of cardiovascular diseases. At first to solve well-defined familial cases, but with the recent developments ofExpand