Stijn Van de Sompele

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

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

Stijn Van de Sompele, Kent W. Small, Munevver Burcu Cicekdal et al. · The American Journal of Human Genetics · 2022 · 36 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

Stijn Van de Sompele, Claire E. L. Smith, Marianthi Karali et al. · Genetics in Medicine · 2018 · 20 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Alfredo Dueñas Rey, Marta Del Pozo‐Valero, Manon Bouckaert et al. · Genome Medicine · 2024 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

A novel duplication involving <i>PRDM13</i> in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).

Kent W. Small, Stijn Van de Sompele, Karen Nuytemans et al. · PubMed · 2021 · 14 citations · Full text

Medicine, Genetics, Ophthalmology +15