Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
2020 · The American Journal of Human Genetics · 118 citations
https://doi.org/10.1016/j.ajhg.2020.09.002
S
Suzanne E. de Bruijn
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Suzanne E. de Bruijn is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Retinal Development and Disorders & RNA regulation and disease & Hearing, Cochlea, Tinnitus, Genetics. The author has an h-index of 11, co-authored 27 publications.
ORCID: 0000-0003-2912-9265Papers by this author
worksWhole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
2023 · Human Genetics and Genomics Advances · 27 citations
https://doi.org/10.1016/j.xhgg.2023.100181
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan
2024 · Experimental Eye Research · 2 citations
https://doi.org/10.1016/j.exer.2024.109945
A proteogenomic atlas of the human neural retina
2024 · Frontiers in Genetics · 2 citations
https://doi.org/10.3389/fgene.2024.1451024
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome
2025 · npj Genomic Medicine · 1 citations
https://doi.org/10.1038/s41525-025-00490-8
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