Sidney M Gospe

5PUBLICATIONS
95CO-AUTHORS
Mineral processing/beneficiationPharmacogenomicsEpigenetics (incl. genome methylation and epigenomics)Structural properties of condensed matterCancer genetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (5)

|Aug 07, 2026
Manganese Neurotoxicity and Familial Disorders of Manganese Transport.

|Aug 20, 2025
Pyridoxine-dependent epilepsy: Current perspectives and questions for future research.

Curtis R Coughlin, Sidney M Gospe

|Apr 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

Eric N Anderson, Stephan Drukewitz, Sukhleen Kour

|Apr 03, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

Pageof 1

Frequent Collaborators

2 joint publications

A Reghan Foley

2 joint publications

Enrico Bertini

2 joint publications

Daniel G MacArthur

2 joint publications

Ichizo Nishino