Anna Savoia

University of Verona — Italy

Medicine · Health Sciences

52h-index9.2kcitations203works1.52yr avg
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Research Topics

Platelet Disorders and Treatments(94), Blood groups and transfusion(43), DNA Repair Mechanisms(38), Cell Adhesion Molecules Research(25), Blood properties and coagulation(23)

Publications203 total

Correlating Prematriculation Metrics With Preclerkship and Board Examination Performance: A Systematic Review and Meta-Analysis of Outcomes
Medical Science Educator·2025
Novel Biallelic Variants in <i>CPOX</i> Gene in a Case of Hereditary Coproporphyria With Antenatal Onset and Adverse Neonatal Outcome: A Potential Diagnostic Clue of Harderoporphyria?
Prenatal Diagnosis·2025
Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations
Haematologica·2025Open Access
A computational study of the fold and stability of cytochrome c with implications for disease
International Journal of Biological Macromolecules·2025· 3 citedOpen Access
A novel de novo GFAP variant causes a juvenile-onset Alexander disease with bilateral vocal cord paralysis
Gene·2025Open Access
Functional Testing of ETV6 Variants: Is the Evaluation of Their Intracellular Localization Sufficient in Assessing Pathogenicity?
Genes·2025· 1 citedOpen Access
The effects of bariatric surgery on spinal alignment, radiological, and clinical outcomes in morbidly obese patients with low back pain: A systematic review and meta-analysis
Brain and Spine·2025Open Access
Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6
Cells·2024Open Access
372 Challenging diagnosis when CF or CFTR-related disorders are suspected: from genotype to phenotype and theratype
Journal of Cystic Fibrosis·2024
A computational study of the fold and stability of cytochrome c with implications for disease
2024Open Access
Thrombocytopenia 4 (<scp>THC4</scp>): Six novel families with mutations of the cytochrome c gene
British Journal of Haematology·2024· 11 citedOpen Access
<i>ACTN1</i>‐related thrombocytopenia: Homozygosity for an <i>ACTN1</i> variant results in a more severe phenotype
British Journal of Haematology·2024· 5 citedOpen Access
Exploring the Interplay of Ankrd26, Etv6, and Gps2 in Inherited Thrombocytopenia Predisposing to Hematological Neoplasms
SSRN Electronic Journal·2024Open Access
Identification of a robust DNA methylation signature for Fanconi anemia
The American Journal of Human Genetics·2023· 14 citedOpen Access
Phenotype reversion as “natural gene therapy” in Fanconi anemia by a gene conversion event
Frontiers in Genetics·2023· 2 citedOpen Access
A novel mutation in <scp>MECOM</scp> affects <scp>MPL</scp> regulation in vitro and results in thrombocytopenia and bone marrow failure
British Journal of Haematology·2023· 6 citedOpen Access
A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C&gt;G splicing mutation
Frontiers in Genetics·2023· 4 citedOpen Access
GP1BB c.179C &gt; T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families
Annals of Hematology·2022· 4 cited
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup
Haematologica·2022· 9 citedOpen Access
“CHildren with Inherited Platelet disorders Surveillance” (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP)
Frontiers in Pediatrics·2022· 7 citedOpen Access
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Frequent Co-authors

Alessandro Pecci(27), Carlo L. Balduini(26), Patrizia Noris(25), Daniela De Rocco(15), Marco Seri(13), Giuseppe Loffredo(10), Valeria Bozzi(10), Paula G. Heller(9), Paolo Gresele(9), Núria Pujol‐Moix(9), Hans Joenje(8), Achille Iolascon(7), Federica Melazzini(7), Fabrizio Fabris(7), Jan C. Pronk(6), Michelangelo Savino(6), Leopoldo Zelante(6), Silverio Perrotta(6), Caterina Marconi(6), Elisa Civaschi(6)