Luke O’Gorman

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)

Chelsea Norman, Luke O’Gorman, Jane Whitney Gibson et al. · Scientific Reports · 2017 · 65 citations · Full text

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Erdi Küçük, Bart van der Sanden, Luke O’Gorman et al. · Genome Medicine · 2023 · 51 citations · Full text

Optical genome mapping identifies a germline retrotransposon insertion in <scp><i>SMARCB1</i></scp> in two siblings with atypical teratoid rhabdoid tumors

Mariangela Sabatella, Tuomo Mantere, Esmé Waanders et al. · The Journal of Pathology · 2021 · 41 citations · Full text

Engineering, Genetics, Pathology +19

GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data

Enrico Mossotto, James J. Ashton, Luke O’Gorman et al. · BMC Bioinformatics · 2019 · 34 citations · Full text

Long-read technologies identify a hidden inverted duplication in a family with choroideremia

Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere et al. · Human Genetics and Genomics Advances · 2021 · 23 citations · Full text