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Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Proverbio MC, Mangano E, Gessi A, Bordoni R, Spinelli R, Asselta R, Valin PS, Di Candia S, Zamproni I, Diceglie C, Mora S, Caruso-Nicoletti M, Salvatoni A, De Bellis G, Battaglia C. Proverbio MC, et al. Among authors: de bellis g. PLoS One. 2013 Jul 15;8(7):e68740. doi: 10.1371/journal.pone.0068740. Print 2013. PLoS One. 2013. PMID: 23869231 Free PMC article.
Whole-exome sequencing of primary plasma cell leukemia discloses heterogeneous mutational patterns.
Cifola I, Lionetti M, Pinatel E, Todoerti K, Mangano E, Pietrelli A, Fabris S, Mosca L, Simeon V, Petrucci MT, Morabito F, Offidani M, Di Raimondo F, Falcone A, Caravita T, Battaglia C, De Bellis G, Palumbo A, Musto P, Neri A. Cifola I, et al. Among authors: de bellis g. Oncotarget. 2015 Jul 10;6(19):17543-58. doi: 10.18632/oncotarget.4028. Oncotarget. 2015. PMID: 26046463 Free PMC article. Clinical Trial.
A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility.
Sorosina M, Barizzone N, Clarelli F, Anand S, Lupoli S, Salvi E, Mangano E, Bordoni R, Roostaei T, Mascia E, Zuccalà M, Vecchio D, Cavalla P, Santoro S, Ferrè L, Zollo A; PROGEMUS; Barlassina C, Cusi D, Martinelli V, Comi G, Leone M, Filippi M, Patsopoulos NA, De Jager PL, De Bellis G, Esposito F, D'Alfonso S, Martinelli Boneschi F. Sorosina M, et al. Among authors: de bellis g. J Neurol. 2022 Aug;269(8):4510-4522. doi: 10.1007/s00415-022-11109-8. Epub 2022 May 12. J Neurol. 2022. PMID: 35545683 Free PMC article.
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
Magi A, Tattini L, Cifola I, D'Aurizio R, Benelli M, Mangano E, Battaglia C, Bonora E, Kurg A, Seri M, Magini P, Giusti B, Romeo G, Pippucci T, De Bellis G, Abbate R, Gensini GF. Magi A, et al. Among authors: de bellis g. Genome Biol. 2013;14(10):R120. doi: 10.1186/gb-2013-14-10-r120. Genome Biol. 2013. PMID: 24172663 Free PMC article.
174 results