Jamie M Ellingford

22PUBLICATIONS
261CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)GenomicsNeurogeneticsEpigenetics (incl. genome methylation and epigenomics)Sensory systems
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Publications (22)

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

|Apr 29, 2026
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service.

|Apr 03, 2026
Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research Library.

Jenny Lord, Alistair T Pagnamenta, Letizia Vestito

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

Adam Jackson, Alexander J M Blakes, Bader Alhaddad

|Feb 25, 2026
Regional nonsense constraint offers biological and clinical insights into genetic disease.

Alexander J M Blakes, Nicola Whiffin, Colin A Johnson

|Jan 09, 2026
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Mathieu Quinodoz, Kim Rodenburg, Zuzana Cvackova

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Frequent Collaborators

8 joint publications

Siddharth Banka

5 joint publications

Raymond T O'Keefe

4 joint publications

Alexander J M Blakes

4 joint publications

Sam Griffiths-Jones