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Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.
Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: buscherini f. Am J Hum Genet. 2010 Aug 13;87(2):250-7. doi: 10.1016/j.ajhg.2010.06.015. Epub 2010 Jul 8. Am J Hum Genet. 2010. PMID: 20619386 Free PMC article.
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients.
Ciavarella M, Miccoli S, Prossomariti A, Pippucci T, Bonora E, Buscherini F, Palombo F, Zuntini R, Balbi T, Ceccarelli C, Bazzoli F, Ricciardiello L, Turchetti D, Piazzi G. Ciavarella M, et al. Among authors: buscherini f. Eur J Hum Genet. 2018 Mar;26(3):387-395. doi: 10.1038/s41431-017-0086-y. Epub 2018 Jan 24. Eur J Hum Genet. 2018. PMID: 29367705 Free PMC article.
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism.
Diquigiovanni C, Bergamini C, Diaz R, Liparulo I, Bianco F, Masin L, Baldassarro VA, Rizzardi N, Tranchina A, Buscherini F, Wischmeijer A, Pippucci T, Scarano E, Cordelli DM, Fato R, Seri M, Paracchini S, Bonora E. Diquigiovanni C, et al. Among authors: buscherini f. FASEB J. 2019 Oct;33(10):11284-11302. doi: 10.1096/fj.201802722R. Epub 2019 Aug 7. FASEB J. 2019. PMID: 31314595