Huw B Thomas

8PUBLICATIONS
92CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMedical virologyGenome structure and regulationMedical genetics (excl. cancer genetics)
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Publications (8)

|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

|Oct 17, 2024
Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.

Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice

|May 18, 2022
A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations.

Ranjay Jayadev, Mychel R P T Morais, Jamie M Ellingford

|Nov 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Damian Smedley, Katherine R Smith, Antonio Martin

|May 07, 2021
Uncovering genetic mechanisms of hypertension through multi-omic analysis of the kidney.

James M Eales, Xiao Jiang, Xiaoguang Xu

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Frequent Collaborators

6 joint publications

Raymond T O'Keefe

3 joint publications

Siddharth Banka

3 joint publications

Jamie M Ellingford

2 joint publications

Katherine A Wood