Centre hospitalier universitaire (CHU) de Dijon Bourgogne

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype (2021) Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, et al. Journal article Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7 (2020) Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sanchez B, Yang S, Reijnders MRF, et al. Journal article Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature (2020) Carmignac V, Nambot S, Lehalle D, Callier P, Moortgat S, Benoit V, Ghoumid J, et al. Journal article De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features (2020) Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, et al. Journal article Outcome of a Salvage Third Autologous Stem Cell Transplantation in Multiple Myeloma (2018) Garderet L, Iacobelli S, Koster L, Goldschmidt H, Johansson JE, Bourhis JH, Krejci M, et al. Journal article Responses of human neonates to highly diluted odorants from sweat. (2017) Loos H, Doucet S, Vedrines F, Sharapa C, Soussignan R, Durand K, Sagot P, et al. Journal article Responses of Human Neonates to Highly Diluted Odorants from Sweat (2017) Loos H, Doucet S, Vedrines F, Sharapa C, Soussignan R, Durand K, Sagot P, et al. Journal article Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency (2016) Saunier C, Stove SI, Popp B, Gerard B, Blenski M, Ahmew N, De Bie C, et al. Journal article Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition (2016) Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, et al. Journal article T2-weighted MRI signal predicts hormone and tumor responses to somatostatin analogs in acromegaly (2016) Potorac I, Petrossians P, Daly AF, Alexopoulou O, Borot S, Sahnoun-Fathallah M, Castinetti F, et al. Journal article