Francesca Punzo

Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease

Marialuisa Quadri, Antonio Federico, Tianna Zhao et al. · The American Journal of Human Genetics · 2012 · 415 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families

Patrizia Noris, Silverio Perrotta, Marco Seri et al. · Blood · 2011 · 292 citations · Full text

Medicine, Genetics, Hematology +12

Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2

Tommaso Pippucci, Anna Savoia, Silverio Perrotta et al. · The American Journal of Human Genetics · 2011 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability

Lucio Santoro, Guido J. Breedveld, Fiore Manganelli et al. · Neurogenetics · 2010 · 106 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Von Hippel-Lindau–dependent polycythemia is endemic on the island of Ischia: identification of a novel cluster

Silverio Perrotta, Brúno Nobili, Marcella Ferraro et al. · Blood · 2005 · 92 citations · Full text

Medicine, Hematology, Pathology +6