Paola Daniele

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

Valentina Pinna, Paola Daniele, Federica Consoli et al. · European Journal of Human Genetics · 2014 · 135 citations · Full text

Medicine, Genetics, Molecular Genetics +9

Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

Viviana Cordeddu, Jiani C. Yin, Cecilia Gunnarsson et al. · Human Mutation · 2015 · 82 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

Alexandra MS Scott, Niccolò Di Giosaffatte, Valentina Pinna et al. · Genetics in Medicine · 2021 · 47 citations · Full text

Medicine, Obstetrics, Pediatrics +11

Transplantation of clinical-grade human neural stem cells reduces neuroinflammation, prolongs survival and delays disease progression in the SOD1 rats

Cristina Zalfa, Laura Rota Nodari, Elena Vacchi et al. · Cell Death and Disease · 2019 · 44 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects

Marleny Salazar Salazar, Federica Consoli, Victoria Villegas et al. · European Journal of Medical Genetics · 2011 · 42 citations · Full text

Medicine, Genetics, Molecular Genetics +16