Determinants of dental care use in patients with rare diseases: a qualitative exploration

por Friedlander, Lisa, Berdal, Ariane, Cormier-Daire, Valérie, Lyonnet, Stanislas, Garcelon, Nicolas
Publicado 2023

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 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 2021

Targeting Serotonin With Common Antidepressants Induces Rapid Recovery From Cytopenia

por Fouquet, Guillemette, Rossignol, Julien, Garcelon, Nicolas, Hermine, Olivier, Côté, Francine, Coman, Tereza
Publicado 2022

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method

por Friedlander, Lisa, Vincent, Marc, Berdal, Ariane, Cormier-Daire, Valérie, Lyonnet, Stanislas, Garcelon, Nicolas
Publicado 2022

Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS)

por Lerner, Ivan, Serret-Larmande, Arnaud, Rance, Bastien, Garcelon, Nicolas, Burgun, Anita, Chouchana, Laurent, Neuraz, Antoine
Publicado 2022

Correction: Mining Electronic Health Records for Drugs Associated With 28-day Mortality in COVID-19: Pharmacopoeia-wide Association Study (PharmWAS)

por Lerner, Ivan, Serret-Larmande, Arnaud, Rance, Bastien, Garcelon, Nicolas, Burgun, Anita, Chouchana, Laurent, Neuraz, Antoine
Publicado 2022

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 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 2019

Allograft function and muscle mass evolution after kidney transplantation

por Gaillard, François, Ould Rabah, Mélissa, Garcelon, Nicolas, Touam, Malik, Neuraz, Antoine, Legendre, Christophe, Anglicheau, Dany, Prié, Dominique, Bienaimé, Frank
Publicado 2022

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 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 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 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 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 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 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 2020

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

por Chen, Xiaoyi, Faviez, Carole, Vincent, Marc, Briseño-Roa, Luis, Faour, Hassan, Annereau, Jean-Philippe, Lyonnet, Stanislas, Zaidan, Mohamad, Saunier, Sophie, Garcelon, Nicolas, Burgun, Anita
Publicado 2022

BLNK mutation associated with T-cell LGL leukemia and autoimmune diseases: Case report in hematology

por Fouquet, Guillemette, Rossignol, Julien, Ricard, Laure, Guillem, Flavia, Couronné, Lucile, Asnafi, Vahid, Vavasseur, Manon, Parisot, Mélanie, Garcelon, Nicolas, Rieux-Laucat, Frédéric, Mekinian, Arsène, Hermine, Olivier
Publicado 2022

Natural history of Myhre syndrome

por Yang, David Dawei, Rio, Marlene, Michot, Caroline, Boddaert, Nathalie, Yacoub, Wael, Garcelon, Nicolas, Thierry, Briac, Bonnet, Damien, Rondeau, Sophie, Herve, Dominique, Guey, Stephanie, Angoulvant, Francois, Cormier-Daire, Valerie
Publicado 2022