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2010 2
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15 results

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Page 1
Massively parallel sequencing and rare disease.
Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Ng SB, et al. 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.
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Marneros AG, et al. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541344 Free PMC article.
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. Am J Hum Genet. 2015. PMID: 25957469 Free PMC article.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ, Below JE, Shively KM, Beck AE, Gildersleeve HI, Pinner J, Gogola GR, Hecht JT, Grange DK, Harris DJ, Earl DL, Jagadeesh S, Mehta SG, Robertson SP, Swanson JM, Faustman EM, Mefford HC, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. McMillin MJ, et al. Am J Hum Genet. 2013 Jan 10;92(1):150-6. doi: 10.1016/j.ajhg.2012.11.014. Epub 2012 Dec 20. Am J Hum Genet. 2013. PMID: 23261301 Free PMC article.
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. 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.
Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.
Chong JX, Caputo V, Phelps IG, Stella L, Worgan L, Dempsey JC, Nguyen A, Leuzzi V, Webster R, Pizzuti A, Marvin CT, Ishak GE, Ardern-Holmes S, Richmond Z; University of Washington Center for Mendelian Genomics; Bamshad MJ, Ortiz-Gonzalez XR, Tartaglia M, Chopra M, Doherty D. Chong JX, et al. Am J Hum Genet. 2016 Apr 7;98(4):772-81. doi: 10.1016/j.ajhg.2016.01.016. Epub 2016 Mar 31. Am J Hum Genet. 2016. PMID: 27040692 Free PMC article.
15 results