Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA
2021 · European Journal of Human Genetics · 14 citations
https://doi.org/10.1038/s41431-021-00907-9
R
Ronald van Beek
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8
h-index
7
i10-index
Ronald van Beek is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Genomic variations and chromosomal abnormalities & Genomics and Rare Diseases & Chromosomal and Genetic Variations. The author has an h-index of 8, co-authored 17 publications.
Papers by this author
worksOptical genome mapping enables accurate testing of large repeat expansions
2025 · Genome Research · 6 citations
https://doi.org/10.1101/gr.279491.124
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa
2024 · European Journal of Human Genetics · 3 citations
https://doi.org/10.1038/s41431-024-01627-6
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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