Ferdinand Dhombres

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

Ana Rath, Annie Olry, Ferdinand Dhombres et al. · Human Mutation · 2012 · 396 citations · Full text

Public Health, Bioinformatics, Health Informatics +17

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 375 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +15

Screening for fetal spina bifida at the 11–13‐week scan using three anatomical features of the posterior brain

R. Mangione, Ferdinand Dhombres, Nathalie Lelong et al. · Ultrasound in Obstetrics and Gynecology · 2013 · 64 citations · Full text

Medicine, Obstetrics, Radiology +17

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Ferdinand Dhombres, Patricia Morgan, Bimal P. Chaudhari et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2022 · 51 citations · Full text

Medicine, Bioinformatics, Genetics +17

Interoperability between phenotypes in research and healthcare terminologies—Investigating partial mappings between HPO and SNOMED CT

Ferdinand Dhombres, Olivier Bodenreider · Journal of Biomedical Semantics · 2016 · 44 citations · Full text

Computing, Biomedical Informatics, Health Informatics +17