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Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Lionel AC, Tammimies K, Vaags AK, Rosenfeld JA, Ahn JW, Merico D, Noor A, Runke CK, Pillalamarri VK, Carter MT, Gazzellone MJ, Thiruvahindrapuram B, Fagerberg C, Laulund LW, Pellecchia G, Lamoureux S, Deshpande C, Clayton-Smith J, White AC, Leather S, Trounce J, Melanie Bedford H, Hatchwell E, Eis PS, Yuen RK, Walker S, Uddin M, Geraghty MT, Nikkel SM, Tomiak EM, Fernandez BA, Soreni N, Crosbie J, Arnold PD, Schachar RJ, Roberts W, Paterson AD, So J, Szatmari P, Chrysler C, Woodbury-Smith M, Brian Lowry R, Zwaigenbaum L, Mandyam D, Wei J, Macdonald JR, Howe JL, Nalpathamkalam T, Wang Z, Tolson D, Cobb DS, Wilks TM, Sorensen MJ, Bader PI, An Y, Wu BL, Musumeci SA, Romano C, Postorivo D, Nardone AM, Monica MD, Scarano G, Zoccante L, Novara F, Zuffardi O, Ciccone R, Antona V, Carella M, Zelante L, Cavalli P, Poggiani C, Cavallari U, Argiropoulos B, Chernos J, Brasch-Andersen C, Speevak M, Fichera M, Ogilvie CM, Shen Y, Hodge JC, Talkowski ME, Stavropoulos DJ, Marshall CR, Scherer SW. Lionel AC, et al. Among authors: musumeci sa. Hum Mol Genet. 2014 May 15;23(10):2752-68. doi: 10.1093/hmg/ddt669. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381304 Free PMC article.
Complex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.
Giorda R, Bonaglia MC, Beri S, Fichera M, Novara F, Magini P, Urquhart J, Sharkey FH, Zucca C, Grasso R, Marelli S, Castiglia L, Di Benedetto D, Musumeci SA, Vitello GA, Failla P, Reitano S, Avola E, Bisulli F, Tinuper P, Mastrangelo M, Fiocchi I, Spaccini L, Torniero C, Fontana E, Lynch SA, Clayton-Smith J, Black G, Jonveaux P, Leheup B, Seri M, Romano C, dalla Bernardina B, Zuffardi O. Giorda R, et al. Among authors: musumeci sa. Am J Hum Genet. 2009 Sep;85(3):394-400. doi: 10.1016/j.ajhg.2009.08.001. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716111 Free PMC article.
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity.
Cellini E, Vetro A, Conti V, Marini C, Doccini V, Clementella C, Parrini E, Giglio S, Della Monica M, Fichera M, Musumeci SA, Guerrini R. Cellini E, et al. Among authors: musumeci sa. Eur J Hum Genet. 2019 Jun;27(6):909-918. doi: 10.1038/s41431-019-0335-3. Epub 2019 Jan 25. Eur J Hum Genet. 2019. PMID: 30683929 Free PMC article. Clinical Trial.
Definition of minimal duplicated region encompassing the XIAP and STAG2 genes in the Xq25 microduplication syndrome.
Di Benedetto D, Musumeci SA, Avola E, Alberti A, Buono S, Scuderi C, Grillo L, Galesi O, Spalletta A, Giudice ML, Luciano D, Vinci M, Bianca S, Romano C, Fichera M. Di Benedetto D, et al. Among authors: musumeci sa. Am J Med Genet A. 2014 Aug;164A(8):1923-30. doi: 10.1002/ajmg.a.36570. Epub 2014 Apr 14. Am J Med Genet A. 2014. PMID: 24733578
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H. Tucci A, et al. Hum Mutat. 2013 Feb;34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27. Hum Mutat. 2013. PMID: 23086778 Free PMC article.
105 results