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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
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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- Conference Paper
- C3
- open access
A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract
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Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.169-169 -
Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
(2022) -
- Journal Article
- A2
- open access
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta
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- Journal Article
- A2
- open access
Loss of TANGO1 leads to absence of bone mineralization
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- Journal Article
- A1
- open access
Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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Lack of bone mineralization in a TANGO1 deficient patient
(2020) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 28(Supplement 1). p.254-255 -
- 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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- Journal Article
- A1
- open access
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy
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Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta
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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) -
- Journal Article
- A1
- open access
Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions
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- Journal Article
- A1
- open access
The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review
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- Conference Paper
- C3
- open access
Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy
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- Journal Article
- A1
- open access
A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta
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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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- Conference Paper
- C3
- open access
A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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- Journal Article
- A1
- open access
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046 -
Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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- Conference Paper
- C3
- open access
Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation
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Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later
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Differential expression of type III collagen in male and female mice
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Type III collagen is important for dermal and cardiovascular development, and type I collagen fibrillogenesis
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta
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Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development
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Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia
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Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development
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Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development
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Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome