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Orphanet Journal of Rare Diseases|June 12, 2026
The estimated burden of rare diseases in South Africa using Orphanet: an epidemiological analysisHelen Louise Malherbe, Sujani Odendaal, Ana Kukava, et al.
Archives of Medical Research|June 11, 2026
Rare disease nomenclature and coding: challenges, systems, and policies in the global contextAshray Vohora, Sylvie Maiella, Caterina Lucano, et al.
Orphanet Journal of Rare Diseases|July 8, 2025
Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)Ferdinand Dhombres, Timothée de Saint-Denis, Dominic Thompson, et al.
Nature Structural & Molecular Biology|April 21, 2015
Notch is a direct negative regulator of the DNA-damage responseJelena Vermezovic, Marek Adamowicz, Libero Santarpia, et al.
European Journal of Human Genetics : EJHG|November 5, 2023
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological reportDavid Lagorce, Emeline Lebreton, Leslie Matalonga, et al.
JMIR Medical Informatics|July 8, 2026
The Orphanet Nomenclature and Classification of Rare Diseases for Improved Patient Recognition and Data Interoperability: Qualitative and Quantitative AnalysisCaterina Lucano, David Lagorce, Annie Olry, et al.
Orphanet Journal of Rare Diseases|September 4, 2023
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparabilityMonica Mazzucato, Laura Visonà Dalla Pozza, Paola Facchin, et al.
Plos One|December 11, 2012
The endocytic adaptor Eps15 controls marginal zone B cell numbersBenedetta Pozzi, Stefania Amodio, Caterina Lucano, et al.
Nucleic Acids Research|November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.
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