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Page 1
A genetic model for neurodevelopmental disease.
Coe BP, Girirajan S, Eichler EE. Coe BP, et al. Among authors: girirajan s. Curr Opin Neurobiol. 2012 Oct;22(5):829-36. doi: 10.1016/j.conb.2012.04.007. Epub 2012 May 2. Curr Opin Neurobiol. 2012. PMID: 22560351 Free PMC article. Review.
Human copy number variation and complex genetic disease.
Girirajan S, Campbell CD, Eichler EE. Girirajan S, et al. Annu Rev Genet. 2011;45:203-26. doi: 10.1146/annurev-genet-102209-163544. Epub 2011 Aug 19. Annu Rev Genet. 2011. PMID: 21854229 Free PMC article.
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Girirajan S, Brkanac Z, Coe BP, Baker C, Vives L, Vu TH, Shafer N, Bernier R, Ferrero GB, Silengo M, Warren ST, Moreno CS, Fichera M, Romano C, Raskind WH, Eichler EE. Girirajan S, et al. PLoS Genet. 2011 Nov;7(11):e1002334. doi: 10.1371/journal.pgen.1002334. Epub 2011 Nov 10. PLoS Genet. 2011. PMID: 22102821 Free PMC article.
Population analysis of large copy number variants and hotspots of human genetic disease.
Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. Itsara A, et al. Among authors: girirajan s. Am J Hum Genet. 2009 Feb;84(2):148-61. doi: 10.1016/j.ajhg.2008.12.014. Epub 2009 Jan 22. Am J Hum Genet. 2009. PMID: 19166990 Free PMC article.
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, Eichler EE. O'Roak BJ, et al. Among authors: girirajan s. Nat Genet. 2011 Jun;43(6):585-9. doi: 10.1038/ng.835. Epub 2011 May 15. Nat Genet. 2011. PMID: 21572417 Free PMC article.
Parental-age effects in Down syndrome.
Girirajan S. Girirajan S. J Genet. 2009 Apr;88(1):1-7. doi: 10.1007/s12041-009-0001-6. J Genet. 2009. PMID: 19417538 No abstract available.
108 results