Author

Aurora Santin

University of TriesteORCID 0000-0002-8940-5463Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Assay:GWAS summary statistics· 2 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:fine-mapping· 1 Research Focus:GWAS / association mapping· 1

Frequent Co-Authors

Giuseppe Giovanni NardoneiD· 3 shared Alessandro PecoriiD· 2 shared Giorgia GirottoiD· 2 shared Maria Pina ConcasiD· 2 shared Adam D. GepneriD· 1 shared Aldi T. Kraja· 1 shared Alessio BoattiniiD· 1 shared Alexander GuðjónssoniD· 1 shared

Activity by Year

2025-2025 · peak 3/yr

Co-Author Collaboration Network

10 top collaborators · 27 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Giuseppe Giovanni NardoneORCID

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Author profile →

3 papers

Recent·Most cited

Integrating GWAS meta-analysis with human brain cell mapping implicates the amygdala and the midbrain in the pathogenesis of tinnitus

Nick M. A. Schubert, Shuyang Yao, Maryam Kazemi Naeini, Natalia Trpchevska, Charles E. Bishop, Argyro J. Bizaki-Vallaskangas, Linda Broer, Fabio Castellana, Kaare Christensen, Jacob Hjelmborg, Maria Pina Concas, Aurora Santin, Giorgia Girotto, Giuseppe Giovanni Nardone, Licia Iacoviello, , Frances M. K. Williams

The paper integrates GWAS meta-analysis with human brain cell mapping to identify genetic loci and cell types involved in tinnitus, implicating the amygdala and midbrain.

medRxiv · Nov 28, 2025 · PreprintGenetic & Genomic Medicine

Large-Scale Gene-Smoking Interactions and Fine Mapping Study Identifies Multiple Novel Blood Pressure Loci in over 1 Million Individuals

Mengyu Zhang, Michael R. Brown, Amy R. Bentley, Thomas W. Winkler, Raymond Noordam, Pavithra Nagarajan, Bohong Guo, Songmi Lee, Karen Schwander, Wenyi Wang, Kenneth E. Westerman, Jeffrey R. O’Connell, Farah Ammous, Anna D. Argoty-Pantoja, Traci M. Bartz, , Bertha Hidalgo

This study identifies twelve novel blood pressure loci and shows smoking modifies genetic effects on BP through immune-related pathways in over 1 million individuals.

medRxiv · Oct 6, 2025 · PreprintGenetic & Genomic Medicine

Relationship between Transposable Elements and behavioral traits: insights from six genetic isolates from North-Eastern Italy

Giorgia Modenini, Giacomo Mercuri, Paolo Abondio, Giuseppe Giovanni Nardone, Aurora Santin, Paola Tesolin, Beatrice Spedicati, Alessandro Pecori, Giulia Pianigiani, Maria Pina Concas, Giorgia Girotto, Paolo Gasparini, Alessio Boattini, Massimo Mezzavilla

The paper investigates the association between polymorphic transposable elements (TEs) and behavioral traits and BMI in six Italian genetic isolates, finding significant links to health-related phenotypes.

medRxiv · May 7, 2025 · PreprintGenetic & Genomic Medicine