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Anna Savoia | doi.page

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Anna Savoia

University of Verona(IT)Rush University Medical Center(US)Rush University(US)

Publications by Year

Research Areas

Platelet Disorders and Treatments, Blood groups and transfusion, DNA Repair Mechanisms, Cell Adhesion Molecules Research, Blood properties and coagulation

Most-Cited Works

→ Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA(1996)416 cited
→ MYH9: Structure, functions and role of non-muscle myosin IIA in human disease(2018)355 cited
→ Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia(2015)324 cited
→ MYH9-Related Disease(2003)308 cited
→ Positional cloning of the Fanconi anaemia group A gene(1996)295 cited
→ Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families(2011)289 cited

→ Recent advances in the understanding and management of MYH9‐related inherited thrombocytopenias(2011)

231 cited

→ Mutations in the 5′ UTR of ANKRD26, the Ankirin Repeat Domain 26 Gene, Cause an Autosomal-Dominant Form of Inherited Thrombocytopenia, THC2(2011)218 cited

→ Association of complementation group and mutation type with clinical outcome in fanconi anemia. European Fanconi Anemia Research Group.(2000)216 cited

→ Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism(1999)212 cited