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

by Tommaso Lo Barco, Mathieu Kuchenbuch, Nicolas Garcelon, Antoine Neuraz, Rima Nabbout
Published 2021-07-01

Diagnosis support systems for rare diseases: a scoping review

by Carole Faviez, Xiaoyi Chen, Nicolas Garcelon, Antoine Neuraz, Bertrand Knebelmann, Rémi Salomon, Stanislas Lyonnet, Sophie Saunier, Anita Burgun
Published 2020-04-01

Hepatobiliary Complications in Children with Sickle Cell Disease: A Retrospective Review of Medical Records from 616 Patients

by Slimane Allali, Mariane de Montalembert, Valentine Brousse, Claire Heilbronner, Melissa Taylor, Josephine Brice, Elisabetta Manzali, Nicolas Garcelon, Florence Lacaille
Published 2019-09-01

Evaluation of Hydroxychloroquine Blood Concentrations and Effects in Childhood-Onset Systemic Lupus Erythematosus

by Noël Zahr, Saik Urien, Christian Funck-Brentano, Hélène Vantomme, Nicolas Garcelon, Isabelle Melki, Margaux Boistault, Olivia Boyer, Brigitte Bader-Meunier
Published 2021-03-01

A Comprehensive Analysis of Immune Constituents in Blood and Bronchoalveolar Lavage Allows Identification of an Immune Signature of Severe Asthma in Children

by Karine Adel-Patient, Marta Grauso, Rola Abou-Taam, Blanche Guillon, Céline Dietrich, François Machavoine, Mélanie Briard, Nicolas Garcelon, Nicolas Garcelon, Hassan Faour, Hassan Faour, Antoine Neuraz, Antoine Neuraz, Christophe Delacourt, Thierry Jo Molina, Thierry Jo Molina, Maria Leite-de-Moraes, Guillaume Lezmi, Guillaume Lezmi
Published 2021-07-01

Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

by Nicolas Garcelon, Antoine Neuraz, Rémi Salomon, Nadia Bahi-Buisson, Jeanne Amiel, Capucine Picard, Nizar Mahlaoui, Vincent Benoit, Anita Burgun, Bastien Rance
Published 2018-05-01

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments

by David Dawei Yang, Geneviève Baujat, Antoine Neuraz, Nicolas Garcelon, Claude Messiaen, Arnaud Sandrin, Gérard Cheron, Anita Burgun, Zagorka Pejin, Valérie Cormier-Daire, François Angoulvant
Published 2020-01-01

Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.

by Fabienne Charbit-Henrion, Bernadette Bègue, Anaïs Sierra, Sylvain Hanein, Marie-Claude Stolzenberg, Zhi Li, Sandra Pellegrini, Nicolas Garcelon, Marc Jeanpierre, Bénédicte Neven, Isabelle Loge, Capucine Picard, Jérémie Rosain, Jacinta Bustamante, Marc Le Lorc'h, Bénédicte Pigneur, Alicia Fernandes, GENIUS Group, Frédéric Rieux-Laucat, Jorge Amil Dias, Frank M Ruemmele, Nadine Cerf-Bensussan
Published 2018-01-01