Publicaties
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Homozygosity mapping-guided exome sequencing in LCA patients of consanguineous origin reveals mutations in known genes and a novel candidate gene Universiteit Gent
Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene KU Leuven
A case-control study revealed association between hypertension and rs3918226 in the endothelial nitric oxide synthase (eNOS) gene promoter (minor/major allele, T/C allele). We aimed at substantiating these preliminary findings by target sequencing, cell experiments, and a population study. We sequenced the 140-kb genomic area encompassing the eNOS gene. In HeLa and HEK293T cells transfected with the eNOS promoter carrying either the T or the C ...
Disorders of sex development : insights from targeted gene sequencing of a large international patient cohort Universiteit Gent
MinION (TM) nanopore sequencing of skin microbiome 16S and 16S-23S rRNA gene amplicons Universiteit Gent
Efficiency of exome sequencing for the molecular diagnosis and modifier gene identification in pseudoxanthoma elasticum Universiteit Gent
The molecular etiology of pseudoxanthoma elasticum (PXE), an autosomal recessive ectopic mineralization disorder, has become more complex as mutations in multiple genes - ABCC6, ENPP1 and GGCX - can cause similar phenotypes. Further, PXE shows important clinical variability, with growing importance of modifier genes. Thus, often multiple genes need to be screened in a patient. Next Generation Sequencing, including whole exome sequencing (WES), ...
Germline whole exome sequencing and large-scale replication identifies FANCM as a likely high grade serous ovarian cancer susceptibility gene Universiteit Gent
Massive parallel IGHV gene sequencing reveals a germinal center pathway in origins of human multiple myeloma Vrije Universiteit Brussel
Human multiple myeloma (MM) is characterized by accumulation of malignant terminally differentiated plasma cells (PCs) in the bone marrow (BM), raising the question when during maturation neoplastic transformation begins. Immunoglobulin IGHV genes carry imprints of clonal tumor history, delineating somatic hypermutation (SHM) events that generally occur in the germinal center (GC). Here, we examine MM-derived IGHV genes using massive parallel ...