- ORCID iD
- 0000-0002-8155-3197
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- Journal Article
- open access
Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing
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Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
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- Journal Article
- A1
- open access
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling
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- Conference Paper
- C3
- open access
Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis
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- Journal Article
- A1
- open access
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80 -
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophyand hearing loss
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.45-45 -
Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
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- Conference Paper
- C3
- open access
Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing (WES) and linkage analysis
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- Journal Article
- A1
- open access
A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)
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- Journal Article
- A1
- open access
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
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Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients
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Dealing with pseudogenes in in the next generation sequencing era
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- Journal Article
- A1
- open access
Long-read sequencing to unravel complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss
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- Journal Article
- A1
- open access
Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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Unraveling complex structural variants of CEP78 leading to cone rod dystrophy and hearing loss using long read sequencing
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Unraveling complex structural variants of CEP78 leading to cone-rod dystrophy and hearing loss using long-read sequencing
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Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)
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- Journal Article
- A1
- open access
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility
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Analysis of whole exome sequencing data with a panel of genes associated with intellectual disability and epilepsy in a diagnostic lab
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
(2019) -
Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel
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Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel
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Application of a custom designed broad cancer predisposition gene panel for the analysis of patients with a personal and/or family history of pancreatic cancer
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Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss
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- Journal Article
- A1
- open access
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
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- Conference Paper
- C3
- open access
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11
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In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
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In-house developed 15-gene sequencing panel for acute myeloid leukemia and myelodysplasia allows robust detection of genetic defects including FLT3-ITD and CEBPA mutations
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A next-generation sequencing approach targeting the highly repetitive ORF15 region of RPGR improves molecular diagnostics of X-linked retinitis pigmentosa
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- Journal Article
- A1
- open access
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
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- Journal Article
- A2
- open access
Complete genome sequence of bovine polyomavirus type 1 from aborted cattle, isolated in Belgium in 2014
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- Journal Article
- A4
- open access
Complete genome sequences of three African foot-and-mouth disease viruses from clinical samples isolated in 2009 and 2010
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- Journal Article
- A2
- open access
Complete coding sequences of one H9 and three H7 low-pathogenic influenza viruses circulating in wild birds in Belgium, 2009 to 2012
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Next generation sequencing shows West Nile virus quasispecies diversification after a single passage in a carrion crow (Corvus corone) in vivo infection model
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Evaluation of convenient pretreatment protocols for RNA virus metagenomics in serum and tissue samples
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Next-generation sequencing in veterinary medicine : how can the massive amount of information arising from high-throughput technologies improve diagnosis, control, and management of infectious diseases?
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Extensive genetic variability linked to IS26 insertions in the fljB promoter region of atypical monophasic variants of Salmonella enterica serovar Typhimurium
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Full-genome sequencing of four bluetongue virus serotype 11 viruses
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- PhD Thesis
- open access
Genome sequencing by random priming methods for viral identification
(2015) -
False-positive results in metagenomic virus discovery: a strong case for follow-up diagnosis
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What's in a strain?: viral metagenomics identifies genetic variation and contaminating circoviruses in laboratory isolates of pigeon paramyxovirus type 1
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- Journal Article
- A1
- open access
The origin of biased sequence depth in sequence-independent nucleic acid amplification and optimization for efficient massive parallel sequencing
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Phylogeographic analysis of avian influenza viruses isolated from Charadriiformes in Belgium confirms intercontinental reassortment in gulls
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- Journal Article
- A1
- open access
DNase SISPA-next generation sequencing confirms Schmallenberg virus in Belgian field samples and identifies genetic variation in Europe
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- Journal Article
- A1
- open access
Identification and complete genome sequencing of paramyxoviruses in mallard ducks (Anas platyrhynchos) using random access amplification and next generation sequencing technologies