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Page 1
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Simon MT, Ng BG, Friederich MW, Wang RY, Boyer M, Kircher M, Collard R, Buckingham KJ, Chang R, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Van Hove JLK, Freeze HH, Abdenur JE. Simon MT, et al. Among authors: shendure j. Mitochondrion. 2017 May;34:84-90. doi: 10.1016/j.mito.2017.02.004. Epub 2017 Feb 12. Mitochondrion. 2017. PMID: 28216230 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.
Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Roach JC, et al. Among authors: shendure j. Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10. Science. 2010. PMID: 20220176 Free PMC article.
Targeted enrichment of specific regions in the human genome by array hybridization.
Igartua C, Turner EH, Ng SB, Hodges E, Hannon GJ, Bhattacharjee A, Rieder MJ, Nickerson DA, Shendure J. Igartua C, et al. Among authors: shendure j. Curr Protoc Hum Genet. 2010 Jul;Chapter 18:Unit 18.3. doi: 10.1002/0471142905.hg1803s66. Curr Protoc Hum Genet. 2010. PMID: 20582915 Free PMC article.
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.
Massively parallel sequencing and rare disease.
Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Ng SB, et al. Among authors: shendure j. Hum Mol Genet. 2010 Oct 15;19(R2):R119-24. doi: 10.1093/hmg/ddq390. Epub 2010 Sep 15. Hum Mol Genet. 2010. PMID: 20846941 Free PMC article. Review.
445 results