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Multi-omic studies on missense PLG variants in families with otitis media.
Bootpetch TC, Hafrén L, Elling CL, Baschal EE, Manichaikul AW, Pine HS, Szeremeta W, Scholes MA, Cass SP, Larson ED, Chan KH, Ishaq R, Prager JD, Shaikh RS, Gubbels SP, Yousaf A; University of Washington Center for Mendelian Genomics (UW-CMG); Wine TM, Bamshad MJ, Yoon PJ, Jenkins HA, Nickerson DA, Streubel SO, Friedman NR, Frank DN, Einarsdottir E, Kere J, Riazuddin S, Daly KA, Leal SM, Ryan AF, Mattila PS, Ahmed ZM, Sale MM, Chonmaitree T, Santos-Cortez RLP. Bootpetch TC, et al. Among authors: shaikh rs. Sci Rep. 2020 Sep 14;10(1):15035. doi: 10.1038/s41598-020-70498-w. Sci Rep. 2020. PMID: 32929111 Free PMC article.
Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42.
Borck G, Ur Rehman A, Lee K, Pogoda HM, Kakar N, von Ameln S, Grillet N, Hildebrand MS, Ahmed ZM, Nürnberg G, Ansar M, Basit S, Javed Q, Morell RJ, Nasreen N, Shearer AE, Ahmad A, Kahrizi K, Shaikh RS, Ali RA, Khan SN, Goebel I, Meyer NC, Kimberling WJ, Webster JA, Stephan DA, Schiller MR, Bahlo M, Najmabadi H, Gillespie PG, Nürnberg P, Wollnik B, Riazuddin S, Smith RJ, Ahmad W, Müller U, Hammerschmidt M, Friedman TB, Riazuddin S, Leal SM, Ahmad J, Kubisch C. Borck G, et al. Among authors: shaikh rs. Am J Hum Genet. 2011 Feb 11;88(2):127-37. doi: 10.1016/j.ajhg.2010.12.011. Epub 2011 Jan 20. Am J Hum Genet. 2011. PMID: 21255762 Free PMC article.
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.
Shahzad M, Sires Campos J, Tariq N, Herraiz Serrano C, Yousaf R, Jiménez-Cervantes C, Yousaf S, Waryah YM, Dad HA, Blue EM, Sobreira N, López-Giráldez F; University of Washington Center for Mendelian Genomics; Kausar T, Ali M, Waryah AM, Riazuddin S, Shaikh RS, García-Borrón JC, Ahmed ZM. Shahzad M, et al. Among authors: shaikh rs. Pigment Cell Melanoma Res. 2015 Nov;28(6):730-5. doi: 10.1111/pcmr.12400. Epub 2015 Sep 22. Pigment Cell Melanoma Res. 2015. PMID: 26197705 Free PMC article.
Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population.
Yousaf S, Shahzad M, Kausar T, Sheikh SA, Tariq N, Shabbir AS; University of Washington Center for Mendelian Genomics; Ali M, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM. Yousaf S, et al. Among authors: shaikh rs. Pigment Cell Melanoma Res. 2016 Mar;29(2):231-5. doi: 10.1111/pcmr.12438. Epub 2015 Dec 18. Pigment Cell Melanoma Res. 2016. PMID: 26575419 Free PMC article. No abstract available.
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M, Yousaf S, Waryah YM, Gul H, Kausar T, Tariq N, Mahmood U, Ali M, Khan MA, Waryah AM, Shaikh RS, Riazuddin S, Ahmed ZM; University of Washington Center for Mendelian Genomics (UW CMG) Consortium. Shahzad M, et al. Among authors: shaikh rs. Sci Rep. 2017 Mar 7;7:44185. doi: 10.1038/srep44185. Sci Rep. 2017. PMID: 28266639 Free PMC article. Clinical Trial.
FUT2 Variants Confer Susceptibility to Familial Otitis Media.
Santos-Cortez RLP, Chiong CM, Frank DN, Ryan AF, Giese APJ, Bootpetch Roberts T, Daly KA, Steritz MJ, Szeremeta W, Pedro M, Pine H, Yarza TKL, Scholes MA, Llanes EGDV, Yousaf S, Friedman N, Tantoco MLC, Wine TM, Labra PJ, Benoit J, Ruiz AG, de la Cruz RAR, Greenlee C, Yousaf A, Cardwell J, Nonato RMA, Ray D, Ong KMC, So E, Robertson CE, Dinwiddie J, Lagrana-Villagracia SM; University of Washington Center for Mendelian Genomics (UWCMG); Gubbels SP, Shaikh RS, Cass SP, Einarsdottir E, Lee NR, Schwartz DA, Gloria-Cruz TLI, Bamshad MJ, Yang IV, Kere J, Abes GT, Prager JD, Riazuddin S, Chan AL, Yoon PJ, Nickerson DA, Cutiongco-de la Paz EM, Streubel SO, Reyes-Quintos MRT, Jenkins HA, Mattila P, Chan KH, Mohlke KL, Leal SM, Hafrén L, Chonmaitree T, Sale MM, Ahmed ZM. Santos-Cortez RLP, et al. Among authors: shaikh rs. Am J Hum Genet. 2018 Nov 1;103(5):679-690. doi: 10.1016/j.ajhg.2018.09.010. Epub 2018 Oct 25. Am J Hum Genet. 2018. PMID: 30401457 Free PMC article.
59 results