Leslie Matalonga

6PUBLICATIONS
138CO-AUTHORS
Neurology and neuromuscular diseasesCancer geneticsGene mappingGene expression (incl. microarray and other genome-wide approaches)Molecular medicine
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Jul 20, 2026
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

|Apr 16, 2026
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

|Dec 01, 2025
SYNE1 Deficiency Manifesting Primarily With Motor Neuron Disease.

Henriette V F Senghor, Raúl Domínguez Rubio, Carla Marco

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

Wouter Steyaert, Lydia Sagath, German Demidov

|Feb 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.

Steven Laurie, Davide Piscia, Leslie Matalonga

|Dec 15, 2016
Small molecules as therapeutic agents for inborn errors of metabolism.

Leslie Matalonga, Laura Gort, Antonia Ribes

Pageof 1

Frequent Collaborators

4 joint publications

Steven Laurie

4 joint publications

Sergi Beltran

3 joint publications

Hanns Lochmüller

2 joint publications

German Demidov