Anna Savoia

Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA

Jerome R. Lo Ten Foe, Martin A. Rooimans, Lucine Bosnoyan-Collins et al. · Nature Genetics · 1996 · 416 citations

Natural Sciences, Genetics, Expression Cloning +7

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

Positional cloning of the Fanconi anaemia group A gene

Sinoula Apostolou, S.A. Whitmore, Joanna Crawford et al. · Nature Genetics · 1996 · 294 citations

Biology, Genetics, Gene Structure +6

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