Rosangela Ferese

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

Medicine, Genetics, Molecular Genetics +17

Familial transposition of the great arteries caused by multiple mutations in laterality genes

Alessandro De Luca, Anna Sárközy, Federica Consoli et al. · Heart · 2009 · 137 citations

Medicine, Cardiology, Genetics +17

RASopathies: Clinical Diagnosis in the First Year of Life

M. C. Digilio, Francesca Romana Lepri, Anwar Baban et al. · Molecular Syndromology · 2010 · 96 citations · Full text

Medicine, Cardiology, Pediatrics +11

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations

Maria Lisa Dentici, Anna Sárközy, Francesca Pantaleoni et al. · European Journal of Human Genetics · 2009 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

Maria Cecilia D’Asdia, Isabella Torrente, Federica Consoli et al. · European Journal of Medical Genetics · 2012 · 80 citations

Dentistry, Genetics, Molecular Genetics +16