Luke O’Gorman - Concepedia

Author

Luke O’Gorman

Radboud University Medical Center ORCID

Also Known As

L. O’Gorman, Luke O'Gorman, Luke O’Gorman

Publications

360

Citations

H-Index

Concepts

All Affiliations

Radboud University Medical Center Radboud University Nijmegen Radboud Institute for Molecular Life Sciences University of Southampton Centro Nacional de Análisis Genómico

About

Luke O’Gorman is an author at Radboud University Medical Center specializing in molecular genetics, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	3	3	64
2	Molecular Genetics	3	3	64
3	Engineering	1	1	41
4	Public Health	1	1	10
5	Genetic Medicine	1	1	10

Luke O’Gorman

Publications

341

Citations

H-Index

Page 1

	Year	Citations
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, Scientific Reports	2017	65
Comprehensive de novo mutation discovery with HiFi long-read sequencing Erdi Küçük, Bart van der Sanden, Luke O’Gorman, Genome Medicine	2023	51
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, The Journal of Pathology EngineeringGeneticsPathologyMolecular GeneticsDisease Gene Identification	2021	41
GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data Enrico Mossotto, James J. Ashton, Luke O’Gorman, BMC Bioinformatics	2019	34
Long-read technologies identify a hidden inverted duplication in a family with choroideremia Zeinab Fadaie, Kornelia Neveling, Tuomo Mantere, Human Genetics and Genomics Advances	2021	23
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing Wouter Steyaert, Lydia Sagath, German Demidov,	2024	19
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples Robin Wijngaard, German Demidov, Luke O’Gorman, European Journal of Human Genetics	2023	18
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing Wouter Steyaert, Lydia Sagath, German Demidov, Genome Research	2025	16
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping Luke O’Gorman, Chelsea Norman, L Michaels, Scientific Reports	2019	15
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant Jeroen J. Smits, Suzanne E. de Bruijn, Jaap Oostrik, Human Genetics	2021	15

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