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Page 1
The contribution of de novo coding mutations to autism spectrum disorder.
Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, Gonzalez LE, Mandell JD, Mane SM, Murtha MT, Sullivan CA, Walker MF, Waqar Z, Wei L, Willsey AJ, Yamrom B, Lee YH, Grabowska E, Dalkic E, Wang Z, Marks S, Andrews P, Leotta A, Kendall J, Hakker I, Rosenbaum J, Ma B, Rodgers L, Troge J, Narzisi G, Yoon S, Schatz MC, Ye K, McCombie WR, Shendure J, Eichler EE, State MW, Wigler M. Iossifov I, et al. Among authors: leotta a. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29. Nature. 2014. PMID: 25363768 Free PMC article.
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Levy D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L, Iossifov I, Wigler M. Levy D, et al. Among authors: leotta a. Neuron. 2011 Jun 9;70(5):886-97. doi: 10.1016/j.neuron.2011.05.015. Neuron. 2011. PMID: 21658582 Free article.
De novo gene disruptions in children on the autistic spectrum.
Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M. Iossifov I, et al. Among authors: leotta a. Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009. Neuron. 2012. PMID: 22542183 Free PMC article.
Strong association of de novo copy number mutations with autism.
Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimäki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M. Sebat J, et al. Among authors: leotta a. Science. 2007 Apr 20;316(5823):445-9. doi: 10.1126/science.1138659. Epub 2007 Mar 15. Science. 2007. PMID: 17363630 Free PMC article.
The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Warburton D, Ronemus M, Kline J, Jobanputra V, Williams I, Anyane-Yeboa K, Chung W, Yu L, Wong N, Awad D, Yu CY, Leotta A, Kendall J, Yamrom B, Lee YH, Wigler M, Levy D. Warburton D, et al. Among authors: leotta a. Hum Genet. 2014 Jan;133(1):11-27. doi: 10.1007/s00439-013-1353-9. Epub 2013 Aug 25. Hum Genet. 2014. PMID: 23979609 Free PMC article.
Rare de novo germline copy-number variation in testicular cancer.
Stadler ZK, Esposito D, Shah S, Vijai J, Yamrom B, Levy D, Lee YH, Kendall J, Leotta A, Ronemus M, Hansen N, Sarrel K, Rau-Murthy R, Schrader K, Kauff N, Klein RJ, Lipkin SM, Murali R, Robson M, Sheinfeld J, Feldman D, Bosl G, Norton L, Wigler M, Offit K. Stadler ZK, et al. Among authors: leotta a. Am J Hum Genet. 2012 Aug 10;91(2):379-83. doi: 10.1016/j.ajhg.2012.06.019. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863192 Free PMC article.
A unified genetic theory for sporadic and inherited autism.
Zhao X, Leotta A, Kustanovich V, Lajonchere C, Geschwind DH, Law K, Law P, Qiu S, Lord C, Sebat J, Ye K, Wigler M. Zhao X, et al. Among authors: leotta a. Proc Natl Acad Sci U S A. 2007 Jul 31;104(31):12831-6. doi: 10.1073/pnas.0705803104. Epub 2007 Jul 25. Proc Natl Acad Sci U S A. 2007. PMID: 17652511 Free PMC article.
Mouse genomic representational oligonucleotide microarray analysis: detection of copy number variations in normal and tumor specimens.
Lakshmi B, Hall IM, Egan C, Alexander J, Leotta A, Healy J, Zender L, Spector MS, Xue W, Lowe SW, Wigler M, Lucito R. Lakshmi B, et al. Among authors: leotta a. Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11234-9. doi: 10.1073/pnas.0602984103. Epub 2006 Jul 14. Proc Natl Acad Sci U S A. 2006. PMID: 16844783 Free PMC article.
Optimizing sparse sequencing of single cells for highly multiplex copy number profiling.
Baslan T, Kendall J, Ward B, Cox H, Leotta A, Rodgers L, Riggs M, D'Italia S, Sun G, Yong M, Miskimen K, Gilmore H, Saborowski M, Dimitrova N, Krasnitz A, Harris L, Wigler M, Hicks J. Baslan T, et al. Among authors: leotta a. Genome Res. 2015 May;25(5):714-24. doi: 10.1101/gr.188060.114. Epub 2015 Apr 9. Genome Res. 2015. PMID: 25858951 Free PMC article.
36 results