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481 results

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Page 1
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation.
Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ; University of Washington Center for Mendelian Genomics; Freeze HH. Ng BG, et al. Among authors: nickerson da. Am J Hum Genet. 2013 Apr 4;92(4):632-6. doi: 10.1016/j.ajhg.2013.03.012. Am J Hum Genet. 2013. PMID: 23561849 Free PMC article.
The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster.
Fullerton SM, Buchanan AV, Sonpar VA, Taylor SL, Smith JD, Carlson CS, Salomaa V, Stengård JH, Boerwinkle E, Clark AG, Nickerson DA, Weiss KM. Fullerton SM, et al. Among authors: nickerson da. Hum Genet. 2004 Jun;115(1):36-56. doi: 10.1007/s00439-004-1106-x. Epub 2004 Apr 24. Hum Genet. 2004. PMID: 15108119
High-throughput genotyping of intermediate-size structural variation.
Newman TL, Rieder MJ, Morrison VA, Sharp AJ, Smith JD, Sprague LJ, Kaul R, Carlson CS, Olson MV, Nickerson DA, Eichler EE. Newman TL, et al. Among authors: nickerson da. Hum Mol Genet. 2006 Apr 1;15(7):1159-67. doi: 10.1093/hmg/ddl031. Epub 2006 Feb 23. Hum Mol Genet. 2006. PMID: 16497726
Allelic spectrum of the natural variation in CRP.
Crawford DC, Yi Q, Smith JD, Shephard C, Wong M, Witrak L, Livingston RJ, Rieder MJ, Nickerson DA. Crawford DC, et al. Among authors: nickerson da. Hum Genet. 2006 Jun;119(5):496-504. doi: 10.1007/s00439-006-0160-y. Epub 2006 Mar 21. Hum Genet. 2006. PMID: 16550411 Free PMC article.
Direct detection of null alleles in SNP genotyping data.
Carlson CS, Smith JD, Stanaway IB, Rieder MJ, Nickerson DA. Carlson CS, et al. Among authors: nickerson da. Hum Mol Genet. 2006 Jun 15;15(12):1931-7. doi: 10.1093/hmg/ddl115. Epub 2006 Apr 27. Hum Mol Genet. 2006. PMID: 16644863
Methods for genomic partitioning.
Turner EH, Ng SB, Nickerson DA, Shendure J. Turner EH, et al. Among authors: nickerson da. 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: nickerson da. 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: nickerson da. 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.
481 results