Anna Sarkozy

6PUBLICATIONS
133CO-AUTHORS
Neurology and neuromuscular diseasesGene mappingCancer geneticsGene expression (incl. microarray and other genome-wide approaches)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Mar 16, 2026
Genetic Landscape and Diagnostic Outcomes of UK Patients With Congenital Myopathies and Muscular Dystrophies Over a 10-Year Period.

Gianpaolo Cicala, Jo Mccauley, Rahul Phadke

|Mar 29, 2025
Signs and symptoms of carriers of non-DMD X-linked neuromuscular diseases: A scoping review.

Job Simons, Amanda Dekker, Rosanne Govaarts

|May 15, 2024
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Wouter Steyaert, Lydia Sagath, German Demidov

|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

|Dec 16, 2022
Early clinical and pre-clinical therapy development in Nemaline myopathy.

Gemma Fisher, Laurane Mackels, Theodora Markati

|Apr 21, 2017
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Beryl B Cummings, Jamie L Marshall, Taru Tukiainen

Pageof 1

Frequent Collaborators

3 joint publications

Francesco Muntoni

2 joint publications

Beryl B Cummings

2 joint publications

Veronique Bolduc

2 joint publications

Pinki Munot