Caterina Lucano

5PUBLICATIONS
179CO-AUTHORS
Major global burdens of diseaseDisease surveillanceClinical social work practiceGenomics and transcriptomicsEpigenetics (incl. genome methylation and epigenomics)
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Publications (5)

|Jul 08, 2026
The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative Analysis.

|Jun 12, 2026
The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysis.

|Jul 08, 2025
Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD).

Ferdinand Dhombres, Timothée de Saint-Denis, Dominic Thompson

|Nov 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the world.

Michael A Gargano, Nicolas Matentzoglu, Ben Coleman

|Nov 05, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.

David Lagorce, Emeline Lebreton, Leslie Matalonga

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Frequent Collaborators

4 joint publications

Ana Rath

3 joint publications

David Lagorce

2 joint publications

Peter Robinson

2 joint publications

Marc Hanauer