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0000-0001-7194-6651
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Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress
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Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.394-394 -
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