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Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.
Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Biswas P, et al. Among authors: khan sy, khan nw. PLoS Genet. 2021 Oct 18;17(10):e1009848. doi: 10.1371/journal.pgen.1009848. eCollection 2021 Oct. PLoS Genet. 2021. PMID: 34662339 Free PMC article.
Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts.
Jiao X, Khan SY, Irum B, Khan AO, Wang Q, Kabir F, Khan AA, Husnain T, Akram J, Riazuddin S, Hejtmancik JF, Riazuddin SA. Jiao X, et al. Among authors: khan sy, khan ao, khan aa. PLoS One. 2015 Sep 24;10(9):e0137973. doi: 10.1371/journal.pone.0137973. eCollection 2015. PLoS One. 2015. PMID: 26402864 Free PMC article.
Whole genome sequencing data for two individuals of Pakistani descent.
Khan SY, Kabir F, M'Hamdi O, Jiao X, Naeem MA, Khan SN, Riazuddin S, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Among authors: khan sn. Sci Data. 2018 Sep 11;5:180174. doi: 10.1038/sdata.2018.174. Sci Data. 2018. PMID: 30204152 Free PMC article.
Mutations in FYCO1 identified in families with congenital cataracts.
Iqbal H, Khan SY, Zhou L, Irum B, Ali M, Ahmed MR, Shahzad M, Ali MH, Naeem MA, Riazuddin S, Hejtmancik JF, Riazuddin SA. Iqbal H, et al. Among authors: khan sy. Mol Vis. 2020 Apr 28;26:334-344. eCollection 2020. Mol Vis. 2020. PMID: 32355443 Free PMC article.
Whole genome sequencing data of multiple individuals of Pakistani descent.
Khan SY, Ali M, Lee MW, Ma Z, Biswas P, Khan AA, Naeem MA, Riazuddin S, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Khan SY, et al. Among authors: khan aa. Sci Data. 2020 Oct 13;7(1):350. doi: 10.1038/s41597-020-00664-2. Sci Data. 2020. PMID: 33051442 Free PMC article.
Phenotypic variability associated with the D226N allele of IMPDH1.
Ali S, Khan SY, Naeem MA, Khan SN, Husnain T, Riazuddin S, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA. Ali S, et al. Among authors: khan sy, khan sn. Ophthalmology. 2015 Feb;122(2):429-31. doi: 10.1016/j.ophtha.2014.07.057. Epub 2014 Nov 13. Ophthalmology. 2015. PMID: 25439607 No abstract available.
123 results