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Leslie Matalonga

5PUBLICATIONS

115CO-AUTHORS

Cancer geneticsNeurology and neuromuscular diseasesGene mappingGene expression (incl. microarray and other genome-wide approaches)Molecular medicine

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Publications (5)

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|Apr 16, 2026

Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

|Dec 01, 2025

<i>SYNE1</i> 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

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Frequent Collaborators

3 joint publications

Steven Laurie

3 joint publications

Sergi Beltran

2 joint publications

Hanns Lochmüller

2 joint publications

German Demidov

2 joint publications

Irina Zaharieva

2 joint publications

Rita Horvath

1 joint publications

Davide Piscia

1 joint publications

Laura Valle

1 joint publications

Carles Garcia-Linares

1 joint publications

Carles Hernandez-Ferrer

Frequent Collaborators

3 joint publications

Steven Laurie

3 joint publications

Sergi Beltran

2 joint publications

Hanns Lochmüller

2 joint publications

German Demidov

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