Huw B. Thomas
Framlington Place
Newcastle Upon Tyne, ENG, United Kingdom
Newcastle Upon Tyne, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 74 publications
A role for non-coding RNAs and alternative splicing in the regulation of neutrophil activation and gene expression in systemic lupus erythematosus.
Journal: Journal of leukocyte biology
Published: May 07, 2026
Bi-allelic missense variants in human GPN2 result in Perrault syndrome.
Journal: American journal of human genetics
Published: March 27, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Journal: Nature genetics
Published: September 02, 2025
Real-World Molecular Testing in European Early-Onset Colorectal Cancer.
Journal: United European gastroenterology journal
Published: July 29, 2025
Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.
Journal: Nature communications
Published: June 03, 2025
Cytokine-induced transcriptional changes in human neutrophils reveal immune regulatory plasticity.
Journal: Discovery immunology
Published: February 20, 2025
FUT8 Is a Critical Driver of Prostate Tumour Growth and Can Be Targeted Using Fucosylation Inhibitors.
Journal: Cancer medicine
Published: February 13, 2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 27, 2025
Metagenomic analysis of mosquitoes from Kangerlussuaq, Greenland reveals a unique virome.
Journal: Scientific reports
Published: January 17, 2025
How low can we go? Comparison of liberal and restrictive red cell transfusion thresholds in paediatric allogeneic haematopoietic stem cell transplantation: A randomized multicentre feasibility trial.
Journal: British journal of haematology
Published: November 01, 2024
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: medRxiv : the preprint server for health sciences
Published: October 17, 2024
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: American journal of human genetics
Published: October 09, 2024
Last Updated: 09/26/2026