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Page 1
A man with a productive cough.
Pavlik D, Laxton M, Felker L. Pavlik D, et al. Among authors: felker l. JAAPA. 2017 Mar;30(3):28-31. doi: 10.1097/01.JAA.0000510987.14286.b4. JAAPA. 2017. PMID: 28221317
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. 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.
Rare A2ML1 variants confer susceptibility to otitis media.
Santos-Cortez RL, Chiong CM, Reyes-Quintos MR, Tantoco ML, Wang X, Acharya A, Abbe I, Giese AP, Smith JD, Allen EK, Li B, Cutiongco-de la Paz EM, Garcia MC, Llanes EG, Labra PJ, Gloria-Cruz TL, Chan AL, Wang GT, Daly KA, Shendure J, Bamshad MJ, Nickerson DA, Patel JA, Riazuddin S, Sale MM; University of Washington Center for Mendelian Genomics; Chonmaitree T, Ahmed ZM, Abes GT, Leal SM. Santos-Cortez RL, et al. Nat Genet. 2015 Aug;47(8):917-20. doi: 10.1038/ng.3347. Epub 2015 Jun 29. Nat Genet. 2015. PMID: 26121085 Free PMC article.
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.
Burnicka-Turek O, Steimle JD, Huang W, Felker L, Kamp A, Kweon J, Peterson M, Reeves RH, Maslen CL, Gruber PJ, Yang XH, Shendure J, Moskowitz IP. Burnicka-Turek O, et al. Among authors: felker l. Hum Mol Genet. 2016 Jul 15;25(14):3011-3028. doi: 10.1093/hmg/ddw155. Epub 2016 Jun 23. Hum Mol Genet. 2016. PMID: 27340223 Free PMC article.
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. 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.