Suzanne E. de Bruijn

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

Suzanne E. de Bruijn, Alessia Fiorentino, Stephanie Fanucchi et al. · The American Journal of Human Genetics · 2020 · 118 citations · Full text

Retinal Organoids, Structural Variants, Dominant Retinitis Pigmentosa +15

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Mieke Wesdorp, Silvia Murillo‐Cuesta, Theo Peters et al. · The American Journal of Human Genetics · 2018 · 48 citations · Full text

Developmental Biology, Molecular Physiology, Molecular Neuroscience +11

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