Publications and ressources

Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome

Nicolas Garcelon, Rima NABBOUT, Mathieu Kuchenbuch , Antoine Neuraz

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

Marc Vincent, Nicolas Garcelon, Sophie Saunier

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Mortality and functional outcome after pediatric intracerebral hemorrhage: cohort study and meta-analysis.

Nicolas Garcelon, Nathalie Boddaert, Thomas Blauwblomme

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Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Giulia Barcia, Nicolas Garcelon, Edor Kabashi, Rima NABBOUT

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Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Sophie Saunier, Stanislas Lyonnet, Nicolas Garcelon

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Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

Frédéric Rieux-Laucat, Jérome Hadjadj, Alain Fischer, Bénédicte Neven, Nicolas Garcelon

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Next Generation Phenotyping Using Narrative Reports in a Rare Disease Clinical Data Warehouse

Nicolas Garcelon, Hassan Faour

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A Clinician Friendly Data Warehouse Oriented Toward Narrative Reports: Dr. Warehouse

Nicolas Garcelon, Hassan Faour, Arnold Munnich

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Finding Patients Using Similarity Measures in a Rare Diseases-Oriented Clinical Data Warehouse: Dr. Warehouse and the Needle in the Needle Stack

Nicolas Garcelon

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Improving a full-text search engine: the importance of negation detection and family history context to identify cases in a biomedical data warehouse.

Nicolas Garcelon, Antoine Neuraz, Vincent Benoit

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