Joseph Marsh

39PUBLICATIONS
206CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Molecular targetsGenomics and transcriptomicsNeurology and neuromuscular diseasesPredictive and prognostic markers
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (39)

|Jun 16, 2026
Disease-associated genetic variants can cause missense effects in tissue-specific protein isoforms.

|Feb 09, 2026
BAF complex-independent gene activation by SS18::SSX.

Afroditi Sotiriou, Jinxiu Li, Sanya Middha

|Feb 02, 2026
Mutational scanning reveals oncogenic CTNNB1 mutations have diverse effects on signaling.

Anagha Krishna, Alison Meynert, Karamjit Singh Dolt

|Jan 07, 2026
A structure-guided approach to noncoding variant evaluation for transcription factor binding using AlphaFold 3.

Lukas Gerasimavicius, Simon C Biddie, Joseph A Marsh

|Oct 13, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.

Rolando Hernández Trapero, Mihaly Badonyi, Lukas Gerasimavicius

|Sep 25, 2025
Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes.

Mihaly Badonyi, Joseph A Marsh

Pageof 7

Frequent Collaborators

7 joint publications

Mihaly Badonyi

5 joint publications

Benjamin J Livesey

4 joint publications

Lukas Gerasimavicius

2 joint publications

David R FitzPatrick