Centre hospitalier universitaire (CHU) de Dijon Bourgogne

Hematopoietic stem cell transplantation for DLBCL: a report from the European Society for Blood and Marrow Transplantation on more than 40,000 patients over 32 years (2024) Berning P, Fekom M, Ngoya M, Goldstone AH, Dreger P, Montoto S, Finel H, et al. Journal article DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024) van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al. Journal article Spliceosome malfunction causes neurodevelopmental disorders with overlapping features (2024) Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, et al. Journal article A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder (2024) Albuainain F, Shi Y, Lor-Zade S, Hüffmeier U, Pauly M, Reis A, Faivre L, et al. Journal article Correction to: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (European Journal of Human Genetics, (2024), 10.1038/s41431-024-01560-8) (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, et al. Journal article, Erratum CERT1 mutations perturb human development by disrupting sphingolipid homeostasis (2023) Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, 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 Trends in the Use of Hematopoietic Stem Cell Transplantation in the Management of Relapsed/Refractory Diffuse Large B Cell Lymphoma. a Retrospective Analysis of the Lymphoma Working Party of the EBMT (2022) Sureda A, Boumendil A, Berning P, Finel H, Caillot D, Rösler W, Finke J, et al. Conference contribution Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications (2022) Rosenhahn E, O'Brien TJ, Zaki MS, Sorge I, Wieczorek D, Rostasy K, Vitobello A, et al. Journal article