Carole Faviez

Paris, France

Last Updated: 09/26/2026

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Found 24 publications

Challenges of Ontology-Based Concept Normalization for Deep Phenotyping in Rare Skin Diseases.

Challenges of Ontology-Based Concept Normalization for Deep Phenotyping in Rare Skin Diseases.

Journal: Studies in health technology and informatics

Published: May 23, 2026

Enhancing Longitudinal Data Analysis with Unstructured EHRs: A Case Study of Renal Function Evaluation in Rare Disease.

Enhancing Longitudinal Data Analysis with Unstructured EHRs: A Case Study of Renal Function Evaluation in Rare Disease.

Journal: Studies in health technology and informatics

Published: May 17, 2025

Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.

Enhancing rare disease detection with deep phenotyping from EHR narratives: evaluation on Jeune syndrome.

Journal: International journal of medical informatics

Published: May 07, 2025

Active learning for extracting rare adverse events from electronic health records: A study in pediatric cardiology.

Active learning for extracting rare adverse events from electronic health records: A study in pediatric cardiology.

Journal: International journal of medical informatics

Published: October 31, 2024

An Integrated Pipeline for Phenotypic Characterization, Clustering and Visualization of Patient Cohorts in a Rare Disease-Oriented Clinical Data Warehouse.

An Integrated Pipeline for Phenotypic Characterization, Clustering and Visualization of Patient Cohorts in a Rare Disease-Oriented Clinical Data Warehouse.

Journal: Studies in health technology and informatics

Published: August 23, 2024

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

Journal: BMC medical informatics and decision making

Published: January 30, 2024

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.

Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.

Journal: Orphanet journal of rare diseases

Published: August 29, 2023

Improving Patient Similarity Using Different Modalities of Phenotypes Extracted from Clinical Narratives.

Improving Patient Similarity Using Different Modalities of Phenotypes Extracted from Clinical Narratives.

Journal: Studies in health technology and informatics

Published: May 19, 2023

Assessment of the Early Detection of Anosmia and Ageusia Symptoms in COVID-19 on Twitter: Retrospective Study.

Assessment of the Early Detection of Anosmia and Ageusia Symptoms in COVID-19 on Twitter: Retrospective Study.

Journal: JMIR infodemiology

Published: August 12, 2022

Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Journal: Studies in health technology and informatics

Published: May 25, 2022

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis.

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis.

Journal: Frontiers in pharmacology

Published: September 30, 2021

Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis.

Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis.

Journal: Studies in health technology and informatics

Published: May 27, 2021

Showing 1-12 of 24

Last Updated: 09/26/2026