Catarina Olimpio
5PUBLICATIONS
43CO-AUTHORS
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Publications (5)
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|Dec 26, 2025
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.Thiloka E Ratnaike, M Eren Kule, Ida Paramonov
|Jun 19, 2025
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
|May 09, 2025
Modifier variants in metabolic pathways are associated with an increased penetrance of Leber's Hereditary Optic Neuropathy.Eszter Sara Arany, Catarina Olimpio, Ida Paramonov
|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.Steven Laurie, Wouter Steyaert, Elke de Boer
|Mar 29, 2024
Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies.Tomas Ferreira, Kiran Polavarapu, Catarina Olimpio
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Frequent Collaborators
5 joint publications
Rita Horvath
4 joint publications
Kiran Polavarapu
3 joint publications
Hanns Lochmüller
2 joint publications
Anne-Sophie Denommé-Pichon
2 joint publications
Anna K Sommer
2 joint publications
Kornelia Ellwanger
2 joint publications
Elisa Benetti
2 joint publications
Gemma Bullich
2 joint publications
Daniel Danis
2 joint publications
Jean-Madeleine de Sainte Agathe
