Concepedia
4
Publications
318
Citations
H-Index
2005
Active since
Affiliations
Churchill Hospital(Current)
University of Oxford
John Radcliffe Hospital
A O'Rourke is an author at Churchill Hospital specializing in medicine and pathology.
Top concepts
MedicinePathology
Publications per year
2005–2013
Gain-of-function amino acid substitutions drive positive selection of <i>FGFR2</i> mutations in human spermatogonia
Anne Goriely, Gil McVean, Ans M. M. van Pelt et al. · Proceedings of the National Academy of Sciences · 2005 · 150 citations · Full text
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
Neil Ashley, A O'Rourke, Conrad Smith et al. · Human Molecular Genetics · 2008 · 63 citations · Full text
Gross deletions in TCOF1 are a cause of Treacher–Collins–Franceschetti syndrome
Michael Bowman, Michael Oldridge, Caroline N. S. Archer et al. · European Journal of Human Genetics · 2012 · 59 citations · Full text
Medicine, Pathology, Gross Deletions
Prospective study of <scp><i>POLG</i></scp> mutations presenting in children with intractable epilepsy: Prevalence and clinical features
Johanna Uusimaa, Vasantha Gowda, Anthony McShane et al. · Epilepsia · 2013 · 46 citations · Full text
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