Author

Alessandro Bruselles

Istituto Superiore di SanitàORCID 0000-0002-1556-4998Unclaimed 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· 2 Approach:statistical model· 2 Research Focus:variant effect prediction· 2 Approach:Bayesian inference· 1 Research Focus:differential expression· 1 Research Focus:GWAS / association mapping· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Marco TartagliaiD· 2 shared A. N. Brooks· 1 shared Agnese Verzuri· 1 shared Agostino OgnibeneiD· 1 shared Agostino RivaiD· 1 shared Alessandra VergoriiD· 1 shared Alfonso TrezzaiD· 1 shared Alfredo BruscoiD· 1 shared

Activity by Year

2020-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Marco TartagliaORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicineNature GeneticsPeer-reviewedMar 30, 2026

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Daniel Greene, Rodrigo Mendez, Jonathan Gill Lees…·Ernest Turro

The paper identifies biallelic variants in RNU2-2 as a common cause of recessive neurodevelopmental disorders, showing higher prevalence than the dominant form in England.

3 citationstop 1%

humanwhole-genome sequencing

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedJul 17, 2020

ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

Elisa Benetti, Rossella Tita, Ottavia Spiga…·Carmelo Piscopo

The paper identifies ACE2 gene variants associated with interindividual variability in COVID-19 susceptibility in the Italian population using whole-exome-sequencing data.

263 citationstop 2%

humanwhole-exome sequencing

𝕏 PostBluesky