Gina Ravenscroft

28PUBLICATIONS
174CO-AUTHORS
Neurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Child and adolescent developmentInfant and child healthCarbon capture engineering (excl. sequestration)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (28)

|Jun 09, 2026
Monoallelic POLR3A Variants Cause Early-Onset Peripheral Neuropathy.

|May 14, 2026
Rare disease genomics in an era of human pangenomics and telomere-to-telomere genome references.

|Apr 27, 2026
Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.

|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.

Mridul Johari, Chiara Folland, Yoshihiko Saito

|May 13, 2025
The evolving genetic landscape of neuromuscular fetal akinesias.

Göknur Haliloğlu, Gianina Ravenscroft

|Jan 24, 2025
Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.

Sandra Coppens, Nicolas Deconinck, Patricia Sullivan

Pageof 5

Frequent Collaborators

8 joint publications

Macarena Cabrera-Serrano

5 joint publications

Mridul Johari

5 joint publications

Chiara Folland

5 joint publications

Jevin M Parmar