Université Bourgogne Franche-Comté

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors (2024) Willim J, Woike D, Greene D, Das S, Pfeifer K, Yuan W, Lindsey A, et al. Journal article Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (2024) Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, 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 Stable oxygen isotopes of crocodilian tooth enamel allow tracking Plio-Pleistocene evolution of freshwater environments and climate in the Shungura Formation (Turkana Depression, Ethiopia) (2024) Gardin A, Pucéat E, Garcia G, Boisserie JR, Euriat A, Joachimski M, Nutz A, et al. Journal article, Original 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 A phase 2 open-label study of cemiplimab in patients with advanced cutaneous squamous cell carcinoma (EMPOWER-CSCC-1): Final long-term analysis of groups 1, 2, and 3, and primary analysis of fixed-dose treatment group 6 (2024) Hughes BG, Guminski A, Bowyer S, Migden MR, Schmults CD, Khushalani NI, Chang ALS, et al. Journal article 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 Antarctic Bioconstructional Bryozoans from Terra Nova Bay (Ross Sea): Morphology, Skeletal Structures and Biomineralization (2023) Lombardi C, Kuklinski P, Spirandelli E, Bruzzone G, Raiteri G, Bordone A, Mazzoli C, et al. Journal article, Original article In situ mapping of biomineral skeletal proteins by molecular recognition imaging with antibody-functionalized AFM tips (2023) Khurshid B, Lesniewska E, Polacchi L, L'Héronde M, Jackson DJ, Motreuil S, Thomas J, et al. Journal article