Elisabetta Flex

Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease

Marco Tartaglia, Simone Martinelli, Lorenzo Stella et al. · The American Journal of Human Genetics · 2006 · 420 citations · Full text

Somatic Variant, Genetic Disorder, Genetics +9

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

Viviana Cordeddu, Elia Di Schiavi, L Pennacchio et al. · Nature Genetics · 2009 · 410 citations · Full text

Noonan-like Syndrome, Loose Anagen Hair, Genetics +3

Somatically acquired <i>JAK1</i> mutations in adult acute lymphoblastic leukemia

Elisabetta Flex, Valentina Petrangeli, Lorenzo Stella et al. · The Journal of Experimental Medicine · 2008 · 326 citations · Full text

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

Fanny Kortüm, Viviana Caputo, Christiane K. Bauer et al. · Nature Genetics · 2015 · 214 citations · Full text

Molecular Physiology, Mendelian Disorder, Genetic Disorder +6

Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases

Ludovica Grassi, Romina Alfonsi, Federica Francescangeli et al. · Cell Death and Disease · 2019 · 156 citations · Full text