Janine Reurink

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

Hedwig M. Velde, Janine Reurink, Sebastian Held et al. · Human Genetics · 2022 · 43 citations · Full text

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes

Suzanne E. de Bruijn, Kim Rodenburg, Jordi Corominas et al. · Genetics in Medicine · 2022 · 39 citations · Full text

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Janine Reurink, Nicole Weisschuh, Alejandro Garanto et al. · Human Genetics and Genomics Advances · 2023 · 27 citations · Full text

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Daan M. Panneman, Rebekkah J. Hitti‐Malin, Lara K. Holtes et al. · Frontiers in Cell and Developmental Biology · 2023 · 26 citations · Full text

Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Neringa Jurkutė, Francesca Cancellieri, Lisa Pohl et al. · npj Genomic Medicine · 2022 · 21 citations · Full text