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Author Details
Full Name
Marc Hanauer
Affiliation
INSERM
ORCID
Career Start Year
2017
Papers
8
H Index
4
Expertise
CM4AI Collaborator
PMID
Paper Title
Journal Title
Published Year
37926714
Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.
Eur J Hum Genet
2024
37953324
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
2024
33264411
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
2021
33965931
Enabling FAIR Discovery of Rare Disease Digital Resources.
Stud Health Technol Inform
2021
34367618
The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.
F1000Res
2020
30476213
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Nucleic Acids Res
2019
29425702
Harmonising phenomics information for a better interoperability in the rare disease field.
Eur J Med Genet
2018
29214566
Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.
Adv Exp Med Biol
2017
1 - 8 of 8
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