- Work address
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C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent - Stijn.VandeSompele@UGent.be
- ORCID iD
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0000-0002-3294-0668
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease (IRD) expands the molecular and phenotypic spectrum of recently identified IRD genes
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Exome-based RetNet panel analysis in a Belgian cohort with inherited retinal disease expands the molecular and phenotypic spectrum of recently identified iRD genes
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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
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility.
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Missense mutation in CEP78 in a family with cone-rod dystrophy, sensorineural hearing loss, obesity and subfertility
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Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome
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Novel non-coding homozygous mutation 'Ghent +49A>G' in the iron-responsive element of L-ferritin causes hereditary hyperferritinaemia-cataract syndrome