Patrizia Noris

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Leila Noetzli, Richard Lo, Alisa B. Lee‐Sherick et al. · Nature Genetics · 2015 · 322 citations · Full text

Hematological Malignancy, Medicine, Pathogenesis +8

MYH9-Related Disease

Marco Seri, Alessandro Pecci, Filomena Di Bari et al. · Medicine · 2003 · 307 citations · Full text

Mild Macrothrombocytopenia, Autoimmune Disease, Mendelian Disorder +14

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 · 288 citations · Full text

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 · 217 citations · Full text

Thrombopoiesis, Autoimmune Disease, Genetic Disorder +6

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

Dominique Bluteau, Alessandra Balduini, Nathalie Balayn et al. · Journal of Clinical Investigation · 2014 · 201 citations · Full text