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

por Garcelon, Nicolas, Neuraz, Antoine, Benoit, Vincent, Salomon, Rémi, Burgun, Anita
Publicado en J Am Med Inform Assoc (2017)

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

por Barco, Tommaso Lo, Kuchenbuch, Mathieu, Garcelon, Nicolas, Neuraz, Antoine, Nabbout, Rima
Publicado en Orphanet J Rare Dis (2021)

The Epidemiology of Patients' Email Addresses in a French University Hospital: Case-Control Study

por Looten, Vincent, Neuraz, Antoine, Garcelon, Nicolas, Burgun, Anita, Chatellier, Gilles, Rance, Bastien
Publicado en J Med Internet Res (2021)

Osmoregulation Performance and Kidney Transplant Outcome

por Mazloum, Manal, Jouffroy, Jordan, Brazier, François, Legendre, Christophe, Neuraz, Antoine, Garcelon, Nicolas, Prié, Dominique, Anglicheau, Dany, Bienaimé, Frank
Publicado en J Am Soc Nephrol (2019)

Diagnosis support systems for rare diseases: a scoping review

por Faviez, Carole, Chen, Xiaoyi, Garcelon, Nicolas, Neuraz, Antoine, Knebelmann, Bertrand, Salomon, Rémi, Lyonnet, Stanislas, Saunier, Sophie, Burgun, Anita
Publicado en Orphanet J Rare Dis (2020)

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

por Allali, Slimane, de Montalembert, Mariane, Brousse, Valentine, Heilbronner, Claire, Taylor, Melissa, Brice, Josephine, Manzali, Elisabetta, Garcelon, Nicolas, Lacaille, Florence
Publicado en J Clin Med (2019)

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

por Zahr, Noël, Urien, Saik, Funck-Brentano, Christian, Vantomme, Hélène, Garcelon, Nicolas, Melki, Isabelle, Boistault, Margaux, Boyer, Olivia, Bader-Meunier, Brigitte
Publicado en Pharmaceuticals (Basel) (2021)

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

por Garcelon, Nicolas, Neuraz, Antoine, Salomon, Rémi, Bahi-Buisson, Nadia, Amiel, Jeanne, Picard, Capucine, Mahlaoui, Nizar, Benoit, Vincent, Burgun, Anita, Rance, Bastien
Publicado en Orphanet J Rare Dis (2018)

Association of Antihypertensive Agents with the Risk of In-Hospital Death in Patients with Covid-19

por Chouchana, Laurent, Beeker, Nathanaël, Garcelon, Nicolas, Rance, Bastien, Paris, Nicolas, Salamanca, Elisa, Polard, Elisabeth, Burgun, Anita, Treluyer, Jean-Marc, Neuraz, Antoine
Publicado en Cardiovasc Drugs Ther (2021)

Correction to: Association of Antihypertensive Agents with the Risk of In-Hospital Death in Patients with Covid-19

por Chouchana, Laurent, Beeker, Nathanaël, Garcelon, Nicolas, Rance, Bastien, Paris, Nicolas, Salamanca, Elisa, Polard, Elisabeth, Burgun, Anita, Treluyer, Jean-Marc, Neuraz, Antoine
Publicado en Cardiovasc Drugs Ther (2021)

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

por Hully, Marie, Lo Barco, Tommaso, Kaminska, Anna, Barcia, Giulia, Cances, Claude, Mignot, Cyril, Desguerre, Isabelle, Garcelon, Nicolas, Kabashi, Edor, Nabbout, Rima
Publicado en Genet Med (2021)

Natural Language Processing for Rapid Response to Emergent Diseases: Case Study of Calcium Channel Blockers and Hypertension in the COVID-19 Pandemic

por Neuraz, Antoine, Lerner, Ivan, Digan, William, Paris, Nicolas, Tsopra, Rosy, Rogier, Alice, Baudoin, David, Cohen, Kevin Bretonnel, Burgun, Anita, Garcelon, Nicolas, Rance, Bastien
Publicado en J Med Internet Res (2020)

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

por Yang, David Dawei, Baujat, Geneviève, Neuraz, Antoine, Garcelon, Nicolas, Messiaen, Claude, Sandrin, Arnaud, Cheron, Gérard, Burgun, Anita, Pejin, Zagorka, Cormier-Daire, Valérie, Angoulvant, François
Publicado en Orphanet J Rare Dis (2020)

New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases

por Mercier, Sandra, Dubourg, Christèle, Garcelon, Nicolas, Campillo-Gimenez, Boris, Gicquel, Isabelle, Belleguic, Marion, Ratié, Leslie, Pasquier, Laurent, Loget, Philippe, Bendavid, Claude, Jaillard, Sylvie, Rochard, Lucie, Quélin, Chloé, Dupé, Valérie, David, Véronique, Odent, Sylvie
Publicado 2011

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

por Adel-Patient, Karine, Grauso, Marta, Abou-Taam, Rola, Guillon, Blanche, Dietrich, Céline, Machavoine, François, Briard, Mélanie, Garcelon, Nicolas, Faour, Hassan, Neuraz, Antoine, Delacourt, Christophe, Molina, Thierry Jo, Leite-de-Moraes, Maria, Lezmi, Guillaume
Publicado en Front Immunol (2021)

Safety and efficacy of brentuximab vedotin as a treatment for lymphoproliferative disorders in primary immunodeficiencies

por Pincez, Thomas, Bruneau, Julie, Berteloot, Laureline, Piekarski, Eve, Thomas, Caroline, Marçais, Ambroise, Trinquand, Amélie, Castelle, Martin, Garcelon, Nicolas, Plantaz, Dominique, Cheminant, Morgane, Moshous, Despina, Molina, Thierry Jo, Hermine, Olivier, Macintyre, Elizabeth, Fischer, Alain, Blanche, Stéphane, Suarez, Felipe, Neven, Bénédicte
Publicado en Haematologica (2020)

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

por Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc’h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank M., Cerf-Bensussan, Nadine
Publicado en PLoS One (2018)