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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. Ng SB, et al. Among authors: shendure j. Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15. Nat Genet. 2010. PMID: 20711175 Free PMC article.
Assaying chromosomal inversions by single-molecule haplotyping.
Turner DJ, Shendure J, Porreca G, Church G, Green P, Tyler-Smith C, Hurles ME. Turner DJ, et al. Among authors: shendure j. Nat Methods. 2006 Jun;3(6):439-45. doi: 10.1038/nmeth881. Nat Methods. 2006. PMID: 16721377 Free PMC article.
Next-generation DNA sequencing.
Shendure J, Ji H. Shendure J, et al. Nat Biotechnol. 2008 Oct;26(10):1135-45. doi: 10.1038/nbt1486. Nat Biotechnol. 2008. PMID: 18846087
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. Brkanac Z, et al. Among authors: shendure j. Am J Hum Genet. 2009 May;84(5):692-7. doi: 10.1016/j.ajhg.2009.04.008. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409521 Free PMC article.
Methods for genomic partitioning.
Turner EH, Ng SB, Nickerson DA, Shendure J. Turner EH, et al. Among authors: shendure j. Annu Rev Genomics Hum Genet. 2009;10:263-84. doi: 10.1146/annurev-genom-082908-150112. Annu Rev Genomics Hum Genet. 2009. PMID: 19630561 Review.
Targeted capture and massively parallel sequencing of 12 human exomes.
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, Wong M, Bhattacharjee A, Eichler EE, Bamshad M, Nickerson DA, Shendure J. Ng SB, et al. Among authors: shendure j. Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16. Nature. 2009. PMID: 19684571 Free PMC article.
Exome sequencing identifies the cause of a mendelian disorder.
Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Ng SB, et al. Among authors: shendure j. Nat Genet. 2010 Jan;42(1):30-5. doi: 10.1038/ng.499. Epub 2009 Nov 13. Nat Genet. 2010. PMID: 19915526 Free PMC article.
432 results