Area of research
Cardiology and Cardiovascular Medicine · Genetics
Research interest
Research interests include Biology, Genetics, Medicine, Phenotype, DNA sequencing, and Brugada syndrome.
Identification of a novel hypomorphic variant in CYBB underlying an adult presentation of X-linked recessive Mendelian susceptibility to mycobacterial disease
Heterozygous mutations in the C-terminal domain of COPA underlie a complex autoinflammatory syndrome
Clinical application of multigene panel testing for bleeding, thrombotic, and platelet disorders: a 3-year Belgian experience
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature
Mutations in <i>MAGT1</i> lead to a glycosylation disorder with a variable phenotype
Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction
Inherited p40phox deficiency differs from classic chronic granulomatous disease
Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
Erratum: Guidelines for diagnostic next-generation sequencing
Guidelines for diagnostic next-generation sequencing
<i>MEIS2</i> involvement in cardiac development, cleft palate, and intellectual disability
The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
Criteria for HNF1B analysis in patients with congenital abnormalities of kidney and urinary tract
Novel COL4A1 mutations cause cerebral small vessel disease by haploinsufficiency