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Human Molecular Genetics|April 8, 2014
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesisElisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni, et al.Brain : a Journal of Neurology|August 12, 2021
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonusSerena Galosi, Ban H Edani, Simone Martinelli, et al.American Journal of Human Genetics|February 4, 2018
Functional Dysregulation of CDC42 Causes Diverse Developmental PhenotypesSimone Martinelli, Oliver H F Krumbach, Francesca Pantaleoni, et al.American Journal of Human Genetics|July 30, 2020
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical SpectrumMarialetizia Motta, Luca Pannone, Francesca Pantaleoni, et al.The Journal of Experimental Medicine|October 12, 2019
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 functionMichael T Lam, Simona Coppola, Oliver H F Krumbach, et al.American Journal of Human Genetics|August 27, 2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature AgingElisabetta Flex, Simone Martinelli, Anke Van Dijck, et al.Pageof 3