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CNV profiles of Chinese pediatric patients with developmental disorders.
Yuan H, Shangguan S, Li Z, Luo J, Su J, Yao R, Zhang S, Liang C, Chen Q, Gao Z, Zhu Y, Zhang S, Li W, Lu W, Zhang Y, Xie H, Liu F, Wang Q, Lin Y, Liu L, Wang X, Liang L, Zhong J, Li H, Qiu H, Zhang H, Yan M, Mireguli M, Liu Y, Zhang D, Wang H, Lv H, Xie B, Gui C, Cui X, Zou L, Wang J, Gusella JF, Shen Y, Chen X. Yuan H, et al. Among authors: gusella jf. Genet Med. 2021 Apr;23(4):669-678. doi: 10.1038/s41436-020-01048-y. Epub 2021 Jan 5. Genet Med. 2021. PMID: 33402738 Free article.
Disruption of neurexin 1 associated with autism spectrum disorder.
Kim HG, Kishikawa S, Higgins AW, Seong IS, Donovan DJ, Shen Y, Lally E, Weiss LA, Najm J, Kutsche K, Descartes M, Holt L, Braddock S, Troxell R, Kaplan L, Volkmar F, Klin A, Tsatsanis K, Harris DJ, Noens I, Pauls DL, Daly MJ, MacDonald ME, Morton CC, Quade BJ, Gusella JF. Kim HG, et al. Among authors: gusella jf. Am J Hum Genet. 2008 Jan;82(1):199-207. doi: 10.1016/j.ajhg.2007.09.011. Am J Hum Genet. 2008. PMID: 18179900 Free PMC article.
Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
Higgins AW, Alkuraya FS, Bosco AF, Brown KK, Bruns GA, Donovan DJ, Eisenman R, Fan Y, Farra CG, Ferguson HL, Gusella JF, Harris DJ, Herrick SR, Kelly C, Kim HG, Kishikawa S, Korf BR, Kulkarni S, Lally E, Leach NT, Lemyre E, Lewis J, Ligon AH, Lu W, Maas RL, MacDonald ME, Moore SD, Peters RE, Quade BJ, Quintero-Rivera F, Saadi I, Shen Y, Shendure J, Williamson RE, Morton CC. Higgins AW, et al. Among authors: gusella jf. Am J Hum Genet. 2008 Mar;82(3):712-22. doi: 10.1016/j.ajhg.2008.01.011. Am J Hum Genet. 2008. PMID: 18319076 Free PMC article.
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.
Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Miller DT, et al. Among authors: gusella jf. J Med Genet. 2009 Apr;46(4):242-8. doi: 10.1136/jmg.2008.059907. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805830 Free PMC article.
Monozygotic twins discordant for neurofibromatosis 1.
Kaplan L, Foster R, Shen Y, Parry DM, McMaster ML, O'Leary MC, Gusella JF. Kaplan L, et al. Among authors: gusella jf. Am J Med Genet A. 2010 Mar;152A(3):601-6. doi: 10.1002/ajmg.a.33271. Am J Med Genet A. 2010. PMID: 20186797 Free PMC article.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL; Children's Hospital Boston Genotype Phenotype Study Group. Ching MS, et al. Among authors: gusella jf. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 5;153B(4):937-47. doi: 10.1002/ajmg.b.31063. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468056 Free PMC article.
Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Talkowski ME, Ernst C, Heilbut A, Chiang C, Hanscom C, Lindgren A, Kirby A, Liu S, Muddukrishna B, Ohsumi TK, Shen Y, Borowsky M, Daly MJ, Morton CC, Gusella JF. Talkowski ME, et al. Among authors: gusella jf. Am J Hum Genet. 2011 Apr 8;88(4):469-81. doi: 10.1016/j.ajhg.2011.03.013. Am J Hum Genet. 2011. PMID: 21473983 Free PMC article.
536 results