Kristof Van Schil

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

Danique Beijer, Hong Joo Kim, Lin Guo et al. · JCI Insight · 2021 · 67 citations · Full text

Neurogenomics, Genetics, Clinical Presentation +21

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele et al. · Genetics in Medicine · 2017 · 66 citations · Full text

Copy-number Variations, Genetics, Complex Cnvs +18

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke Coppieters, Kristof Van Schil, Miriam Bauwens et al. · Genetics in Medicine · 2014 · 57 citations · Full text

Identity-by-descent–guided Mutation Analysis, Retinal Dystrophy, Ophthalmology +6

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs

Caroline Van Cauwenbergh, Kristof Van Schil, Robrecht Cannoodt et al. · Genetics in Medicine · 2016 · 44 citations · Full text

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Kristof Van Schil, Françoise Meire, Marcus Karlstetter et al. · Genetics in Medicine · 2014 · 42 citations · Full text

Mendelian Disorder, Retinal Dystrophy, Ophthalmology +8