Fabio Busonero

Researcher

Area of interest:

My main focus is the search of genes accounting for quantitatite traits variation and multifactorial diseases. In the context of SardiNIA study and the case-control study on T1D and MS in Sardinia, I’ve been involved in DNA extraction and lymphoblastoid cell banking, and massive genotyping of the entire cohorts. Moreover, I spent 2 years at The University of Michigan working at the whole-genome sequencing of >3000 samples from the mentioned cohorts.

Most significant publications:

2015

Danjou, Fabrice; Zoledziewska, Magdalena; Sidore, Carlo; Steri, Maristella; Busonero, Fabio; Maschio, Andrea; Mulas, Antonella; Perseu, Lucia; Barella, Susanna; Porcu, Eleonora; Pistis, Giorgio; Pitzalis, Maristella; Pala, Mauro; Menzel, Stephan; Metrustry, Sarah; Spector, Timothy D; Leoni, Lidia; Angius, Andrea; Uda, Manuela; Moi, Paolo; Thein, Swee Lay; Galanello, Renzo; Abecasis, Gonçalo R; Schlessinger, David; Sanna, Serena; Cucca, Francesco

Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels Journal Article

In: Nature Genetics, 47 (11), pp. 1264–1271, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

Sidore, Carlo; Busonero, Fabio; Maschio, Andrea; Porcu, Eleonora; Naitza, Silvia; Zoledziewska, Magdalena; Mulas, Antonella; Pistis, Giorgio; Steri, Maristella; Danjou, Fabrice; Kwong, Alan; Vecchyo, Vicente Diego Ortega Del; Chiang, Charleston W K; Bragg-Gresham, Jennifer; Pitzalis, Maristella; Nagaraja, Ramaiah; Tarrier, Brendan; Brennan, Christine; Uzzau, Sergio; Fuchsberger, Christian; Atzeni, Rossano; Reinier, Frederic; Berutti, Riccardo; Huang, Jie; Timpson, Nicholas J; Toniolo, Daniela; Gasparini, Paolo; Malerba, Giovanni; Dedoussis, George; Zeggini, Eleftheria; Soranzo, Nicole; Jones, Chris; Lyons, Robert; Angius, Andrea; Kang, Hyun M; Novembre, John; Sanna, Serena; Schlessinger, David; Cucca, Francesco; Abecasis, Gonçalo R

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers Journal Article

In: Nature Genetics, 47 (11), pp. 1272–1281, 2015, ISSN: 1546-1718.

Abstract | Links | BibTeX

2013

Orrù, Valeria; Steri, Maristella; Sole, Gabriella; Sidore, Carlo; Virdis, Francesca; Dei, Mariano; Lai, Sandra; Zoledziewska, Magdalena; Busonero, Fabio; Mulas, Antonella; Floris, Matteo; Mentzen, Wieslawa I; Urru, Silvana A M; Olla, Stefania; Marongiu, Michele; Piras, Maria G; Lobina, Monia; Maschio, Andrea; Pitzalis, Maristella; Urru, Maria F; Marcelli, Marco; Cusano, Roberto; Deidda, Francesca; Serra, Valentina; Oppo, Manuela; Pilu, Rosella; Reinier, Frederic; Berutti, Riccardo; Pireddu, Luca; Zara, Ilenia; Porcu, Eleonora; Kwong, Alan; Brennan, Christine; Tarrier, Brendan; Lyons, Robert; Kang, Hyun M; Uzzau, Sergio; Atzeni, Rossano; Valentini, Maria; Firinu, Davide; Leoni, Lidia; Rotta, Gianluca; Naitza, Silvia; Angius, Andrea; Congia, Mauro; Whalen, Michael B; Jones, Chris M; Schlessinger, David; Abecasis, Gonçalo R; Fiorillo, Edoardo; Sanna, Serena; Cucca, Francesco

Genetic variants regulating immune cell levels in health and disease. Journal Article

In: Cell, 155 (1), pp. 242–56, 2013, ISSN: 1097-4172.

Abstract | Links | BibTeX

2012

Consortium, 1000 Genomes Project; Abecasis, Goncalo R; Auton, Adam; Brooks, Lisa D; DePristo, Mark A; Durbin, Richard M; Handsaker, Robert E; Kang, Hyun Min; Marth, Gabor T; McVean, Gil A

An integrated map of genetic variation from 1,092 human genomes Journal Article

In: Nature, 491 (7422), pp. 56–65, 2012, ISSN: 1476-4687.

Abstract | Links | BibTeX

2009

Sanna, Serena; Busonero, Fabio; Maschio, Andrea; McArdle, Patrick F; Usala, Gianluca; Dei, Mariano; Lai, Sandra; Mulas, Antonella; Piras, Maria Grazia; Perseu, Lucia; Masala, Marco; Marongiu, Mara; Crisponi, Laura; Naitza, Silvia; Galanello, Renzo; Abecasis, Gonçalo R; Shuldiner, Alan R; Schlessinger, David; Cao, Antonio; Uda, Manuela

Common variants in the SLCO1B3 locus are associated with bilirubin levels and unconjugated hyperbilirubinemia Journal Article

In: Human Molecular Genetics, 18 (14), pp. 2711–2718, 2009, ISSN: 1460-2083.

Abstract | Links | BibTeX