1. A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia. (20th November 2020) Authors: Busonero, Fabio; Steri, Maristella; Orrù, Valeria; Sole, Gabriella; Olla, Stefania; Marongiu, Michele; Maschio, Andrea; Sidore, Carlo; Lai, Sandra; Mulas, Antonella; Zoledziewska, Magdalena; Floris, Matteo; Pala, Mauro; Forabosco, Paola; Asunis, Isadora; Pitzalis, Maristella; Deidda, Francesca; M... Journal: British journal of haematology Issue: Volume 191:Number 5(2020) Page Start: e124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. GWAS of genetic factors affecting white blood cell morphological parameters in Sardinians uncovers influence of chromosome 11 innate immunity gene cluster on eosinophil morphology. Issue 5 (22nd September 2022) Authors: Marongiu, Michele; Pérez-Mejías, Gonzalo; Orrù, Valeria; Steri, Maristella; Sidore, Carlo; Díaz-Quintana, Antonio; Mulas, Antonella; Busonero, Fabio; Maschio, Andrea; Walter, Klaudia; Tardaguila, Manuel; Akbari, Parsa; Soranzo, Nicole; Fiorillo, Edoardo; Gorospe, Myriam; Schlessinger, David; Díaz... Journal: Human molecular genetics Issue: Volume 32:Issue 5(2023) Page Start: 790 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Methods for Association Analysis and Meta‐Analysis of Rare Variants in Families. Issue 4 (4th March 2015) Authors: Feng, Shuang; Pistis, Giorgio; Zhang, He; Zawistowski, Matthew; Mulas, Antonella; Zoledziewska, Magdalena; Holmen, Oddgeir L.; Busonero, Fabio; Sanna, Serena; Hveem, Kristian; Willer, Cristen; Cucca, Francesco; Liu, Dajiang J.; Abecasis, Gonçalo R. Journal: Genetic epidemiology Issue: Volume 39:Issue 4(2015) Page Start: 227 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity. (August 2021) Authors: Sidore, Carlo; Orrù, Valeria; Cocco, Eleonora; Steri, Maristella; Inshaw, Jamie RJ; Pitzalis, Maristella; Mulas, Antonella; McGurnaghan, Stuart; Frau, Jessica; Porcu, Eleonora; Busonero, Fabio; Dei, Mariano; Lai, Sandra; Sole, Gabriella; Virdis, Francesca; Serra, Valentina; Poddie, Fausto; Delita... Journal: Multiple sclerosis Issue: Volume 27:Number 9(2021) Page Start: 1332 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗