Leslie Matalonga

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 · 100 citations · Full text

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 · 84 citations · Full text

Genetics, 2-Ketoacid Dehydrogenase Complexes, Molecular Biology +19

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

Genetics, Substrate Reduction Therapy, Stem Cell Biology +26

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 · 60 citations · Full text

Accelerating Diagnosis, Engineering, Genetics +22

Mutations in<i>TRAPPC11</i>are associated with a congenital disorder of glycosylation

Leslie Matalonga, Miren Bravo, Carla Serra‐Peinado et al. · Human Mutation · 2016 · 43 citations · Full text

Abnormal Glycosylation, Genetics, Glycobiology +17