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Page 1
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes.
Harel T, Yoon WH, Garone C, Gu S, Coban-Akdemir Z, Eldomery MK, Posey JE, Jhangiani SN, Rosenfeld JA, Cho MT, Fox S, Withers M, Brooks SM, Chiang T, Duraine L, Erdin S, Yuan B, Shao Y, Moussallem E, Lamperti C, Donati MA, Smith JD, McLaughlin HM, Eng CM, Walkiewicz M, Xia F, Pippucci T, Magini P, Seri M, Zeviani M, Hirano M, Hunter JV, Srour M, Zanigni S, Lewis RA, Muzny DM, Lotze TE, Boerwinkle E; Baylor-Hopkins Center for Mendelian Genomics; University of Washington Center for Mendelian Genomics; Gibbs RA, Hickey SE, Graham BH, Yang Y, Buhas D, Martin DM, Potocki L, Graziano C, Bellen HJ, Lupski JR. Harel T, et al. Among authors: smith jd. Am J Hum Genet. 2016 Oct 6;99(4):831-845. doi: 10.1016/j.ajhg.2016.08.007. Epub 2016 Sep 15. Am J Hum Genet. 2016. PMID: 27640307 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.
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
Rieder MJ, Green GE, Park SS, Stamper BD, Gordon CT, Johnson JM, Cunniff CM, Smith JD, Emery SB, Lyonnet S, Amiel J, Holder M, Heggie AA, Bamshad MJ, Nickerson DA, Cox TC, Hing AV, Horst JA, Cunningham ML. Rieder MJ, et al. Among authors: smith jd. Am J Hum Genet. 2012 May 4;90(5):907-14. doi: 10.1016/j.ajhg.2012.04.002. Am J Hum Genet. 2012. PMID: 22560091 Free PMC article.
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia.
Below JE, Earl DL, Shively KM, McMillin MJ, Smith JD, Turner EH, Stephan MJ, Al-Gazali LI, Hertecant JL, Chitayat D, Unger S, Cohn DH, Krakow D, Swanson JM, Faustman EM, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Below JE, et al. Among authors: smith jd. Am J Hum Genet. 2013 Jan 10;92(1):137-43. doi: 10.1016/j.ajhg.2012.11.011. Epub 2012 Dec 27. Am J Hum Genet. 2013. PMID: 23273567 Free PMC article.
1,713 results