Luca Pannone

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Michael T. Lam, Simona Coppola, Oliver H.F. Krumbach et al. · The Journal of Experimental Medicine · 2019 · 191 citations · Full text

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

Simone Martinelli, Oliver H.F. Krumbach, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2018 · 181 citations · Full text

Signal Transduction, Signaling Pathway, Cell Regulation +5

Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

Elisabetta Flex, Mamta Jaiswal, Francesca Pantaleoni et al. · Human Molecular Genetics · 2014 · 142 citations · Full text

Engineering, Genetics, Pathology +17

Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

Marialetizia Motta, Luca Pannone, Francesca Pantaleoni et al. · The American Journal of Human Genetics · 2020 · 94 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +10

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging

Elisabetta Flex, Simone Martinelli, Anke Van Dijck et al. · The American Journal of Human Genetics · 2019 · 56 citations · Full text

Genome Instability, Genetics, Aberrant Function +7