- ORCID iD
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0000-0001-7119-586X
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A rare 5’UTR variant in SEC24D reveals translational dysfunction in osteogenesis imperfecta : a roadmap for RNA therapeutic rescue
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Telomere length in patients with Marfan syndrome
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- Journal Article
- A1
- open access
The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective
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- Journal Article
- A1
- open access
Structure-activity analysis reveals perturbed cilia-Jun N-terminal kinase signaling in MAPKBP1-associated kidney disease
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RNA-sequencing unveils novel FLT4 splice site variants in isolated CHD
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.691-691 -
Cellular senescence in pseudoxanthoma elasticum
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.655-655 -
Accurate quantification of mitochondrial DNA heteroplasmy and copy number at the single cell level with digital PCR (Award Candidate)
(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.706-706 -
Loss of the ubiquitin-associated domain of sqstm1/p62 in zebrafish causes a phenotype resembling Paget’s disease of bone
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- Journal Article
- A1
- open access
Evaluating variants of uncertain significance in adult zebrafish via prime editing : a proof of concept with a COL1A2 variant
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- Journal Article
- A1
- open access
How sample handling distorts telomere studies