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Page 1
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Palombo F, Graziano C, Al Wardy N, Nouri N, Marconi C, Magini P, Severi G, La Morgia C, Cantalupo G, Cordelli DM, Gangarossa S, Al Kindi MN, Al Khabouri M, Salehi M, Giorgio E, Brusco A, Pisani F, Romeo G, Carelli V, Pippucci T, Seri M. Palombo F, et al. Among authors: romeo g. Hum Genet. 2020 Nov;139(11):1429-1441. doi: 10.1007/s00439-020-02187-7. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488467 Free article.
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.
Palombo F, Al-Wardy N, Ruscone GA, Oppo M, Kindi MN, Angius A, Al Lamki K, Girotto G, Giangregorio T, Benelli M, Magi A, Seri M, Gasparini P, Cucca F, Sazzini M, Al Khabori M, Pippucci T, Romeo G. Palombo F, et al. Among authors: romeo g. J Hum Genet. 2017 Feb;62(2):259-264. doi: 10.1038/jhg.2016.120. Epub 2016 Oct 13. J Hum Genet. 2017. PMID: 27734841
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: romeo g. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
EX-HOM (EXome HOMozygosity): a proof of principle.
Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Among authors: romeo g. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793
Reply to ten Kate et al.
Gialluisi A, Pippucci T, Romeo G. Gialluisi A, et al. Among authors: romeo g. Eur J Hum Genet. 2014 Feb;22(2):157-8. doi: 10.1038/ejhg.2013.153. Epub 2013 Jul 17. Eur J Hum Genet. 2014. PMID: 23860043 Free PMC article. No abstract available.
1,002 results