Federica Consoli

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli, Alessandro De Luca, Emilia Stellacci et al. · The American Journal of Human Genetics · 2010 · 259 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Biological and clinical manifestations of juvenile Huntington's disease: a retrospective analysis

Caterina Fusilli, Simone Migliore, Tommaso Mazza et al. · The Lancet Neurology · 2018 · 142 citations

Medicine, Neurology, Pediatrics +13

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

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

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