Comprehensive de novo mutation discovery with HiFi long-read sequencing
2023 · Genome Medicine · 51 citations
https://doi.org/10.1186/s13073-023-01183-6
L
Luke O’Gorman
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11
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Luke O’Gorman is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Genomics and Rare Diseases & Retinal Development and Disorders & melanin and skin pigmentation. The author has an h-index of 11, co-authored 23 publications.
ORCID: 0000-0003-1653-4704Papers by this author
worksGenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data
2019 · BMC Bioinformatics · 34 citations
https://doi.org/10.1186/s12859-019-2877-3
Long-read technologies identify a hidden inverted duplication in a family with choroideremia
2021 · Human Genetics and Genomics Advances · 23 citations
https://doi.org/10.1016/j.xhgg.2021.100046
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples
2023 · European Journal of Human Genetics · 18 citations
https://doi.org/10.1038/s41431-023-01478-7
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping
2019 · Scientific Reports · 15 citations
https://doi.org/10.1038/s41598-019-49368-7
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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