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 · 73 citations · Full text

Life Sciences, Genetics, Neurology +17

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 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 58 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 45 citations · Full text

Medicine, Genetics, Molecular Genetics +16

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 · 43 citations · Full text

Medicine, Genetics, Neurology +17