Raymond T O'Keefe

19PUBLICATIONS
124CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsBehavioural geneticsReaction engineering (excl. nuclear reactions)
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Publications (19)

|Oct 26, 2026
Identification of substrates of the human mitochondrial ClpXP protease and its implications for Perrault syndrome.

|May 26, 2026
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.

|Mar 30, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.

Adam Jackson, Alexander J M Blakes, Bader Alhaddad

|May 29, 2025
Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

Adam Jackson, Nishi Thaker, Alexander Blakes

|Oct 07, 2024
Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.

Thomas B Smith, Robert Kopajtich, Leigh A M Demain

|Aug 09, 2023
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Thomas B Smith, Alessandro Rea, Huw B Thomas

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Frequent Collaborators

7 joint publications

Huw B Thomas

6 joint publications

Siddharth Banka

6 joint publications

William G Newman

5 joint publications

Jamie M Ellingford