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0000-0002-5121-2711
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Evolutionary origin of Hoxc13-dependent skin appendages in amphibians
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Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.71-71 -
Modelling of rare diseases and developmental processes in Xenopus tropicalis : from retinal degeneration to epidermal structures
(2023) -
- Journal Article
- A1
- open access
Mutations in the histone methyltransferase Ezh2 drive context-dependent leukemia in Xenopus tropicalis
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- Journal Article
- A1
- open access
Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos
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RBL1 (p107) functions as tumor suppressor in glioblastoma and small-cell pancreatic neuroendocrine carcinoma in Xenopus tropicalis
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- Miscellaneous
- open access
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations (vol 20, pg 202, 2018)
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
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Leveraging consanguinity in inherited retinal diseases uncovers missing genetic variation : rare novel disease genes and a multitude of novel variants in known disease genes
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- Journal Article
- A1
- open access
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations