Author

Sabrina Frusconi

Azienda Ospedaliero-Universitaria Careggi

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:GWAS / association mapping· 1 Assay:GWAS summary statistics· 1

Frequent Co-Authors

Antonella De LilloiD· 2 shared Dario ManfellottoiD· 2 shared Flavio De AngelisiD· 2 shared Marco Di Girolamo· 2 shared Marco LuigettiiD· 2 shared Maria Fuciarelli· 2 shared Renato A PolimantiiD· 2 shared Federico PerfettoiD· 1 shared

Activity by Year

2019-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Antonella De LilloORCID

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2 papers

Recent·Most cited

Epigenetic profiling of Italian patients identified methylation sites associated with hereditary Transthyretin amyloidosis

Antonella De Lillo, Gita A. Pathak, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Mario Sabatelli, Federico Perfetto, Sabrina Frusconi, Dario Manfellotto, Maria Fuciarelli, Renato A Polimanti

The paper identifies methylation sites associated with hereditary Transthyretin amyloidosis through an epigenome-wide association study.

Clinical Epigenetics · Nov 17, 2020Peer-reviewedGenetic & Genomic Medicine

Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and senile systemic amyloidoses

Antonella De Lillo, Flavio De Angelis, Marco Di Girolamo, Marco Luigetti, Sabrina Frusconi, Dario Manfellotto, Maria Fuciarelli, Renato A Polimanti

This study identifies novel associations between TTR and RBP4 gene variants and multiple phenotypes related to hereditary and senile systemic amyloidoses in a large cohort.

Human Genetics · Oct 28, 2019Peer-reviewedGenetic & Genomic Medicine