Concepedia

Leslie Matalonga

LM

Statistics

Publications

34

Citations

1.1K

H-Index

20

Active since

2012

Affiliations

Centre for Genomic Regulation(Current)

University of Cambridge

Centre for Biomedical Network Research on Rare Diseases

Children's Hospital of Eastern Ontario

Newcastle University

Leslie Matalonga is an author at Centre for Genomic Regulation specializing in life sciences, genetics, and medical genetics.

ORCID

Publications per year

2012–2025

34

Publications

34

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text

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Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

Frederic Tort, Xènia Ferrer-Cortés, Marta Thió et al. · Human Molecular Genetics · 2013 · 87 citations · Full text

, , +17

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

Gustavo Tiscórnia, Erika Lorenzo-Vivas, Leslie Matalonga et al. · Human Molecular Genetics · 2012 · 82 citations · Full text

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The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Steven Laurie, Davide Piscia, Leslie Matalonga et al. · Human Mutation · 2022 · 62 citations · Full text

, , +17

10th Anniversary of the European Association for Predictive, Preventive and Personalised (3P) Medicine - EPMA World Congress Supplement 2020

Olga Golubnitschaja, Ondřej Topolčan, Radek Kučera et al. · The EPMA Journal · 2020 · 58 citations · Full text

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