Pitié-Salpêtrière University Hospital / Hôpital universitaire Pitié-Salpêtrière

Endoscopic papillectomy for ampullary lesions of minor papilla (2024) Vu Trung K, Heise C, Abou-Ali E, Auriemma F, Karam E, van der Wiel SE, Bruno MJ, et al. Journal article Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024) Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al. Journal article Somatic variant analysis of resected brain tissue in epilepsy surgery patients (2024) Sanders MW, Koeleman BP, Brilstra EH, Jansen FE, Baldassari S, Chipaux M, Sim NS, et al. Journal article ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article Further delineation of the SCAF4-associated neurodevelopmental disorder (2024) Schmid CM, Gregor A, Ruiz A, Manso Bazús C, Herman I, Ammouri F, Kotzaeridou U, et al. Journal article Patient perspectives on the use of digital medical devices and health data for AI-driven personalised medicine in Parkinson’s Disease (2024) Paccoud I, Valero MM, Marín LC, Bontridder N, Ibrahim A, Winkler J, Fomo M, et al. Journal article Prevalence and clinical correlations of SF3B1 variants in lactotroph tumours (2023) Simon J, Perez-Rivas LG, Zhao Y, Chasseloup F, Lasolle H, Cortet C, Descotes F, et al. Journal article Endoscopic papillectomy for ampullary lesions in patients with familial adenomatous polyposis compared with sporadic lesions: a propensity score-matched cohort (2023) Vu Trung K, Abou-Ali E, Caillol F, Paik WH, Napoleon B, Masaryk V, van der Wiel SE, et al. Journal article Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders (2023) Langhammer F, Maroofian R, Badar R, Gregor A, Rochman M, Ratliff JB, Koopmans M, et al. Journal article Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article