Présentation
Publications scientifiques
-
2026
Expert-Designed Fact Sheets and AI-Based Analysis of Patient Symptoms to Comb..., J Inherit Metab Dis
-
2025
Exome Sequencing in a Large Cohort with Ciliopathy-Related Kidney Disease., Clin J Am Soc Nephrol
-
2025
Enhancing rare disease detection with deep phenotyping from EHR narratives: e..., Int J Med Inform
-
2025
Enhancing Longitudinal Data Analysis with Unstructured EHRs: A Case Study of ..., Stud Health Technol Inform
-
2024
An Integrated Pipeline for Phenotypic Characterization, Clustering and Visual..., Stud Health Technol Inform
-
2023
Improving Patient Similarity Using Different Modalities of Phenotypes Extract..., Stud Health Technol Inform
-
2022
A Multi-Omics Common Data Model for Primary Immunodeficiencies., Stud Health Technol Inform
-
2022
Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Su..., Front Pharmacol
-
2021
Identification of Similar Patients Through Medical Concept Embedding from Ele..., Stud Health Technol Inform
-
2020
Diagnosis support systems for rare diseases: a scoping review., Orphanet J Rare Dis
-
2019
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping., J Biomed Inform