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Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.
Ansar M, Jan A, Santos-Cortez RL, Wang X, Suliman M, Acharya A, Habib R, Abbe I, Ali G, Lee K, Smith JD; University of Washington Center for Mendelian Genomics; Nickerson DA, Shendure J, Bamshad MJ, Ahmad W, Leal SM. Ansar M, et al. Among authors: smith jd. Eur J Hum Genet. 2016 Aug;24(8):1223-7. doi: 10.1038/ejhg.2015.260. Epub 2015 Dec 23. Eur J Hum Genet. 2016. PMID: 26695873 Free PMC article.
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89.
Santos-Cortez RL, Lee K, Azeem Z, Antonellis PJ, Pollock LM, Khan S, Irfanullah, Andrade-Elizondo PB, Chiu I, Adams MD, Basit S, Smith JD; University of Washington Center for Mendelian Genomics; Nickerson DA, McDermott BM Jr, Ahmad W, Leal SM. Santos-Cortez RL, et al. Among authors: smith jd. Am J Hum Genet. 2013 Jul 11;93(1):132-40. doi: 10.1016/j.ajhg.2013.05.018. Epub 2013 Jun 13. Am J Hum Genet. 2013. PMID: 23768514 Free PMC article.
Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD; University of Washington Center for Mendelian Genomics; Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM. Santos-Cortez RL, et al. Among authors: smith jd. Hum Mol Genet. 2014 Jun 15;23(12):3289-98. doi: 10.1093/hmg/ddu042. Epub 2014 Jan 29. Hum Mol Genet. 2014. PMID: 24482543 Free PMC article.
Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM. Rehman AU, et al. Among authors: smith rj, smith jd. Eur J Hum Genet. 2015 Sep;23(9):1207-15. doi: 10.1038/ejhg.2014.266. Epub 2014 Dec 10. Eur J Hum Genet. 2015. PMID: 25491636 Free PMC article.
Mutation of ATF6 causes autosomal recessive achromatopsia.
Ansar M, Santos-Cortez RL, Saqib MA, Zulfiqar F, Lee K, Ashraf NM, Ullah E, Wang X, Sajid S, Khan FS, Amin-ud-Din M; University of Washington Center for Mendelian Genomics; Smith JD, Shendure J, Bamshad MJ, Nickerson DA, Hameed A, Riazuddin S, Ahmed ZM, Ahmad W, Leal SM. Ansar M, et al. Among authors: smith jd. Hum Genet. 2015 Sep;134(9):941-50. doi: 10.1007/s00439-015-1571-4. Epub 2015 Jun 11. Hum Genet. 2015. PMID: 26063662 Free PMC article.
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2.
Santos-Cortez RL, Faridi R, Rehman AU, Lee K, Ansar M, Wang X, Morell RJ, Isaacson R, Belyantseva IA, Dai H, Acharya A, Qaiser TA, Muhammad D, Ali RA, Shams S, Hassan MJ, Shahzad S, Raza SI, Bashir ZE, Smith JD, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Riazuddin S, Ahmad W, Friedman TB, Leal SM. Santos-Cortez RL, et al. Among authors: smith jd. Am J Hum Genet. 2016 Feb 4;98(2):331-8. doi: 10.1016/j.ajhg.2015.12.004. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805784 Free PMC article.
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP.
Shah K, Ali RH, Ansar M, Lee K, Chishti MS, Abbe I, Li B; University of Washington Center for Mendelian Genomics; Smith JD, Nickerson DA, Shendure J, Coucke PJ, Steyaert W, Bamshad MJ, Santos-Cortez RLP, Leal SM, Ahmad W. Shah K, et al. Among authors: smith jd. BMC Med Genet. 2016 Feb 16;17:13. doi: 10.1186/s12881-016-0275-5. BMC Med Genet. 2016. PMID: 26880286 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.
1,651 results