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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: mackenzie ap. 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.
Haplotype-resolved genome sequencing of a Gujarati Indian individual.
Kitzman JO, Mackenzie AP, Adey A, Hiatt JB, Patwardhan RP, Sudmant PH, Ng SB, Alkan C, Qiu R, Eichler EE, Shendure J. Kitzman JO, et al. Among authors: mackenzie ap. Nat Biotechnol. 2011 Jan;29(1):59-63. doi: 10.1038/nbt.1740. Epub 2010 Dec 19. Nat Biotechnol. 2011. PMID: 21170042 Free PMC article.
156 results