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Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
Paul MS, Michener SL, Pan H, Pfliger JM, Rosenfeld JA, Lerma VC, Tran A, Longley MA, Lewis RA, Weisz-Hubshman M, Bekheirnia MR, Bekheirnia N, Massingham L, Zech M, Wagner M, Engels H, Cremer K, Mangold E, Peters S, Trautmann J, Mester JL, Guillen Sacoto MJ, Person R, McDonnell PP, Cohen SR, Lusk L, Cohen ASA, Pichon JL, Pastinen T, Zhou D, Engleman K, Racine C, Faivre L, Moutton S, Pichon AD, Schuhmann S, Vasileiou G, Russ-Hall S, Scheffer IE, Carvill GL, Mefford H, Network UD, Bacino CA, Lee BH, Chao HT. Paul MS, et al. medRxiv [Preprint]. 2023 Mar 29:2023.03.27.23287689. doi: 10.1101/2023.03.27.23287689. medRxiv. 2023. PMID: 37034625 Free PMC article. Preprint.
Using chest computed tomography and unsupervised machine learning for predicting and evaluating response to lumacaftor-ivacaftor in people with cystic fibrosis.
Campredon A, Battistella E, Martin C, Durieu I, Mely L, Marguet C, Belleguic C, Murris-Espin M, Chiron R, Fanton A, Bui S, Reynaud-Gaubert M, Reix P, Hoang-Thi TN, Vakalopoulou M, Revel MP, Da Silva J, Burgel PR, Chassagnon G; Participating investigators in the French CF reference network study group:; Mounard J, Poulet C, Rames Amiens C, Person C, Troussier F, Urban Angers T, Dalphin ML, Dalphin JC, Pernet D, Richaud-Thiriez Besançon B, Bui S, Fayon M, Macey-Caro Bordeaux J, Campbell K, Laurans Caen M, Borderon C, Heraud MC, Labbé A, Montcouquiol Clermont-Ferrand S, Bassinet L, Remus Créteil N, Fanton A, Houzel-Charavel A, Huet F, Perez-Martin Dijon S, Boldron-Ghaddar A, Scalbert Dunkerque M, Mely Giens L, Camara B, Llerena C, Pin I, Quétant Grenoble S, Cottereau A, Deschildre A, Gicquello A, Perez T, Stervinou-Wemeau L, Thumerelle C, Wallaert B, Wizla Lille N, Languepin J, Ménétrey C, Dupuy-Grasset Limoges M, Bazus L, Buchs C, Jubin V, Werck-Gallois MC, Mainguy C, Perrin T, Reix P, Toutain-Rigolet Lyon Pédiatrie A, Durieu I, Durupt S, Reynaud Q, Nove-Josserand Lyon Adultes R, Baravalle-Einaudi M, Coltey B, Dufeu N, Dubus JC, Stremler Marseille N, Caimmi D, Chiron Montpellier R, … See abstract for full author list ➔ Campredon A, et al. Among authors: pichon as. Eur Respir J. 2022 Jun 16;59(6):2101344. doi: 10.1183/13993003.01344-2021. Print 2022 Jun. Eur Respir J. 2022. PMID: 34795038
Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis.
Burgel PR, Munck A, Durieu I, Chiron R, Mely L, Prevotat A, Murris-Espin M, Porzio M, Abely M, Reix P, Marguet C, Macey J, Sermet-Gaudelus I, Corvol H, Bui S, Lemonnier L, Dehillotte C, Da Silva J, Paillasseur JL, Hubert D; French Cystic Fibrosis Reference Network Study Group. Burgel PR, et al. Am J Respir Crit Care Med. 2020 Jan 15;201(2):188-197. doi: 10.1164/rccm.201906-1227OC. Am J Respir Crit Care Med. 2020. PMID: 31601120