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Luke O'Gorman

6PUBLICATIONS

64CO-AUTHORS

Gene mappingEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Optical technology

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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

|Nov 17, 2023

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Robin Wijngaard, German Demidov, Luke O'Gorman

|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

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

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