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Anna Sarkozy

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

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|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-<i>DMD</i> 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 <i>COL6A1</i> 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

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Frequent Collaborators

3 joint publications

Francesco Muntoni

2 joint publications

Beryl B Cummings

2 joint publications

Veronique Bolduc

2 joint publications

Pinki Munot

2 joint publications

Daniel G MacArthur

2 joint publications

Alessandra Ferlini

2 joint publications

Carsten G Bönnemann

2 joint publications

Volker Straub

1 joint publications

Hemakumar M Reddy

1 joint publications

Fengmei Zhao

Frequent Collaborators

3 joint publications

Francesco Muntoni

2 joint publications

Beryl B Cummings

2 joint publications

Veronique Bolduc

2 joint publications

Pinki Munot

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