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0000-0003-3598-1198
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Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.460-460 -
Valuable insights after one year whole exome sequencing in a fetal/prenatal setting
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.356-356 -
- Journal Article
- A1
- open access
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
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- Journal Article
- A1
- open access
b3galt6 Knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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b3galt6 knock-out zebrafish recapitulate β3GalT6-deficiency disorders in human and reveal a trisaccharide proteoglycan linkage region
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Fishing for pathogenic mechanisms underlying rare Ehlers-Danlos syndrome subtypes
(2020) -
Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
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- Conference Paper
- C3
- open access
Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum
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Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix