Heba Morsy

7PUBLICATIONS
168CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesGene mappingMajor global burdens of disease
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Publications (7)

|Sep 09, 2025
The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Vicente A Yépez, German Demidov, Kornelia Ellwanger

|Feb 26, 2025
Rare disease gene association discovery in the 100,000 Genomes Project.

Valentina Cipriani, Letizia Vestito, Emma F Magavern

|Jun 17, 2024
De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity.

Mehdi Benkirane, Marion Bonhomme, Heba Morsy

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

Wouter Steyaert, Lydia Sagath, German Demidov

|Mar 14, 2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.

Viorica Chelban, Henriette Aksnes, Reza Maroofian

|Jul 30, 2023
Neuromuscular disease genetics in under-represented populations: increasing data diversity.

Lindsay A Wilson, William L Macken, Luke D Perry

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Frequent Collaborators

4 joint publications

Henry Houlden

3 joint publications

Anna Esteve-Codina

3 joint publications

William Macken

3 joint publications

Kornelia Ellwanger