World's Best Scientists 2026 revealed!

D-Index & Metrics

Biology and Biochemistry

D-Index
62
Citations
11933
World Ranking
10943
National Ranking
311

Overview

Anna Savoia is affiliated with the University of Trieste in Italy. Their research is primarily situated within the fields of Medicine and Biochemistry, Genetics and Molecular Biology, with significant contributions to subfields such as Hematology, Molecular Biology, and Genetics. Additional focus areas include Immunology and Pulmonary and Respiratory Medicine.

Their work addresses multiple topics, most notably Platelet Disorders and Treatments, which constitutes a major part of their research output. Other main topics include Blood Groups and Transfusion, DNA Repair Mechanisms, Immunodeficiency and Autoimmune Disorders, Cell Adhesion Molecules Research, Renal Diseases and Glomerulopathies, and Chronic Lymphocytic Leukemia Research.

Anna Savoia has published extensively in various scientific journals. Frequent venues for their publications include:

  • Haematologica
  • British Journal of Haematology
  • Frontiers in Genetics
  • Hämostaseologie
  • The American Journal of Human Genetics

Recent papers authored or co-authored by Savoia include:

  • "GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme," 2021, Haematologica
  • "Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia," 2022, Haematologica
  • "Identification of a robust DNA methylation signature for Fanconi anemia," 2023, The American Journal of Human Genetics
  • "A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly," 2021, International Journal of Molecular Sciences
  • "ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism," 2022, Haematologica

Anna Savoia frequently collaborates with other researchers in their field. Regular co-authors include Michela Faleschini, Roberta Bottega, Alessandro Pecci, Melania Eva Zanchetta, and Patrizia Noris.

Best Publications

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

    J R Foe;M A Rooimans;L Bosnoyan-Collins;N Alon

  • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.

    Seri M;Cusano R;Gangarossa S;Caridi G

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

    Leila Noetzli;Richard W Lo;Alisa B Lee-Sherick;Michael Callaghan

  • 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;Alessandro Pecci

  • MYH9-Related Disease: May-Hegglin Anomaly, Sebastian Syndrome, Fechtner Syndrome, and Epstein Syndrome Are not Distinct Entities but Represent a Variable Expression of a Single Illness

    Marco Seri;Alessandro Pecci;Filomena Di Bari;Roberto Cusano

  • Association of complementation group and mutation type with clinical outcome in Fanconi anemia

    Laurence Faivre;Philippe Guardiola;Cathryn Lewis;Inderjeet Dokal

  • Inherited thrombocytopenias: from genes to therapy

    Carlo L Balduini;Achille Iolascon;Anna Savoia

  • MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.

    Alessandro Pecci;Xuefei Ma;Anna Savoia;Robert S. Adelstein

  • Positional cloning of the Fanconi anaemia group A gene

    Sinoula Apostolou;Scott A. Whitmore;Joanna Crawford;Gregory Lennon

  • Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database

    Valeria Tiranti;Anna Savoia;Francesca Forti;Maria Felicia D'Apolito

  • Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias.

    Carlo L. Balduini;Alessandro Pecci;Anna Savoia

  • Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism

    Quinten Waisfisz;Neil V. Morgan;Maria Savino;Johan P. de Winter

  • 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;Núria Pujol-Moix

  • Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.

    Anna Savoia;Annalisa Pastore;Daniela De Rocco;Elisa Civaschi

  • Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals.

    Lorenzo Lo Muzio;Pier Francesco Nocini;Anna Savoia;Ugo Consolo

  • Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease

    Alessandro Pecci;Emanuele Panza;Núria Pujol-Moix;Catherine Klersy

  • Nonmuscle Myosin Heavy-Chain Gene MYH14 Is Expressed in Cochlea and Mutated in Patients Affected by Autosomal Dominant Hearing Impairment (DFNA4)

    Francesca Donaudy;Rik Snoeckx;Markus Pfister;Hans Peter Zenner

  • Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

    Anna Savoia;Carlo L. Balduini;Maria Savino;Patrizia Noris

  • MYH9-related disease: A novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations

    Alessandro Pecci;Catherine Klersy;Paolo Gresele;Kieran J.D. Lee

  • ANKRD26-related thrombocytopenia and myeloid malignancies

    Patrizia Noris;Remi Favier;Remi Favier;Marie Christine Alessi;Amy E. Geddis

Frequent Co-Authors

Marco Seri
Marco Seri University of Bologna
Leopoldo Zelante
Leopoldo Zelante Casa Sollievo della Sofferenza
Paolo Gresele
Paolo Gresele University of Perugia
Hans Joenje
Hans Joenje VU University Medical Center
Achille Iolascon
Achille Iolascon University of Naples Federico II
David F. Callen
David F. Callen University of Adelaide
Christopher G. Mathew
Christopher G. Mathew King's College London
Annalisa Pastore
Annalisa Pastore King's College London
Paolo Gasparini
Paolo Gasparini University of Trieste
Marco Cattaneo
Marco Cattaneo University of Milan

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