Research interests

Previous research in the field of oncology focused on the identification of relevant changes in the origin and progression of melanoma, t(X;1)-positive papillary renal cell carcinomas, gastric carcinomas and Peutz-Jeghers syndrome and the characterization of these changes at a prognostic and functional level.
Current research is aimed at the identification of genes underlying pediatric neurological disorders and identification and functional characterization of Charcot-Marie-Tooth associated genes and genomic alterations.


Molecular Biology, Genetics

Research output

  1. Pathogenic variants in three families with distal muscle involvement

    Research output: Contribution to journalArticleAcademicpeer-review

  2. Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities

    Research output: Contribution to journalArticleAcademicpeer-review

  3. Deregulated expression of EZH2 in congenital brainstem disconnection

    Research output: Contribution to journalEditorialAcademicpeer-review

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