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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. McMillin MJ, et al. Among authors: smith jd. Am J Hum Genet. 2014 May 1;94(5):734-44. doi: 10.1016/j.ajhg.2014.03.015. Epub 2014 Apr 10. Am J Hum Genet. 2014. PMID: 24726473 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: smith jd. 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: smith jd. 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: smith jd. 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: smith jd. 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
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.
Reiner AP, Barber MJ, Guan Y, Ridker PM, Lange LA, Chasman DI, Walston JD, Cooper GM, Jenny NS, Rieder MJ, Durda JP, Smith JD, Novembre J, Tracy RP, Rotter JI, Stephens M, Nickerson DA, Krauss RM. Reiner AP, et al. Among authors: smith jd. Am J Hum Genet. 2008 May;82(5):1193-201. doi: 10.1016/j.ajhg.2008.03.017. Epub 2008 Apr 24. Am J Hum Genet. 2008. PMID: 18439552 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: smith jd. 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.
1,713 results