Luke O'Gorman
6PUBLICATIONS
64CO-AUTHORS
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Publications (6)
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|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.Wouter Steyaert, Lydia Sagath, German Demidov
|Oct 18, 2023
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.Robin Wijngaard, German Demidov, Luke O'Gorman
|Aug 14, 2023
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility.Timo A Kumpula, Sandra Vorimo, Taneli T Mattila
|Sep 15, 2019
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.Luke O'Gorman, Chelsea S Norman, Luke Michaels
|Mar 01, 2019
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patients.Luke O'Gorman, Angela J Cree, Daniel Ward
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Frequent Collaborators
3 joint publications
Christian Gilissen
3 joint publications
Volker Straub
3 joint publications
Lisenka E L M Vissers
3 joint publications
Steven Laurie
3 joint publications
Wouter Steyaert
3 joint publications
German Demidov
2 joint publications
Antonio Vitobello
2 joint publications
Andrew J Lotery
2 joint publications
Anne-Sophie Denommé-Pichon
2 joint publications
Richarda M de Voer
