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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance
TLDR
To determine the pathogenicity of a GVUS in an individual, improved diagnostic criteria are needed and a diagnostic algorithm is proposed to approach the individual with an uncertain diagnosis. Expand
Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects
Terry Vrijenhoek, Ken Kraaijeveld, Martin Elferink, Joep de Ligt, Elcke Kranendonk, Gijs Santen, Isaac J Nijman, Derek Butler, Godelieve Claes, Adalberto Costessi, Wim Dorlijn, Winfried vanExpand
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
High frequency of mas oncogene activation detected in the NIH3T3 tumorigenicity assay.
TLDR
In four independent transfection experiments performed with high molecular weight DNA isolated from a human ovarian carcinoma, oncogenic NIH3T3 cells contained an activated mas gene in the in vivo tumorigenicity assay, and the DNA sequences in the transfectants diverged from those present in the ovarian tumor, as determined by restriction enzyme mapping. Expand
Outcome in Phospholamban R14del CarriersClinical Perspective
TLDR
Phospholamban R14del mutation carriers are at high risk for malignant ventricular arrhythmias and end-stage heart failure, with left ventricular ejection fraction <45% and sustained or nonsustained ventricular tachycardia as independent risk factors. Expand
An Evidence-based Assessment of Genes in Dilated Cardiomyopathy
TLDR
In a systematic curation of published evidence for genes considered relevant for monogenic DCM, 12 were classified as definitive or strong and seven as moderate evidence spanning 10 gene ontologies. Expand
Genes on chromosome 22 involved in the pathogenesis of central nervous system tumors
TLDR
The accumulation of genetic alterations observed in human colon tumors, in which mutations in APe and ras found in adenomatous polyps have been classified as early events and mutations in p53 and Dee as later events that may contribute to tumor progression, is studied. Expand
Abstract 19832: De Novo Mutations in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) Are Rare and Associated With Large Deletions
TLDR
This work predicted de novo desmosomal mutations are rare in ARVC patients who met 2010 Task Force Criteria, and identified 172 index patients who had one or more pathogenic/likely pathogenic desmosome variants and whose family had undertaken genetic cascade screening. Expand
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