dr. ir. Kristof Van Schil
No current affiliation with UGent
- ORCID iD
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0000-0001-5299-8851
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Deciphering the genetic architecture of inherited retinal diseases in the Iranian population by integrated exome sequencing
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.367-367 -
- Journal Article
- A1
- open access
Loss of function of RIMS2 causes a syndromic congenital cone-rod synaptic disease with neurodevelopmental and pancreatic involvement
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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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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations
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Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations