Khan R - Search Results

1

Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.

Nayab A, Alam Q, Alzahrani OR, Khan R, Sarfaraz S, Albaz AA, Rafeeq MM, Sain ZM, Waqas A, Umair M. Nayab A, et al. Among authors: khan r. Eur J Med Genet. 2021 Sep;64(9):104283. doi: 10.1016/j.ejmg.2021.104283. Epub 2021 Jul 5. Eur J Med Genet. 2021. PMID: 34237446

2

Exonuclease 5 is dispensable for meiotic progression and male fertility in mouse.

Zaman Q, Khan R, Hameed U, Shah W, Waqas A, Zubair M, Dil S, Zafar T, Ali A, Unar A, Shi Q. Zaman Q, et al. Among authors: khan r. Gene. 2021 Feb 15;769:145254. doi: 10.1016/j.gene.2020.145254. Epub 2020 Oct 22. Gene. 2021. PMID: 33164760

3

Computational analysis of Cyclin D1 gene SNPs and association with breast cancer.

Aftab A, Khan R, Shah W, Azhar M, Unar A, Jafar Hussain HM, Waqas A. Aftab A, et al. Among authors: khan r. Biosci Rep. 2021 Jan 29;41(1):BSR20202269. doi: 10.1042/BSR20202269. Biosci Rep. 2021. PMID: 33438725 Free PMC article.

4

CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family.

Ghouchanatigh MD, Khan R, Mojarrad M, Hameed U, Zubair M, Waqas A, Jalali M, Kalantari M, Shamsa A, Zhang H, Shi QH. Ghouchanatigh MD, et al. Among authors: khan r. Asian J Androl. 2022 Jul-Aug;24(4):416-421. doi: 10.4103/aja202177. Asian J Androl. 2022. PMID: 34755701 Free PMC article.

5

A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella.

Ali A, Unar A, Muhammad Z, Dil S, Zhang B, Sadaf H, Khan M, Ali M, Khan R, Shah KMB, Ma A, Jiang X, Zhang Y, Zhang H, Shi Q. Ali A, et al. Among authors: khan r, khan m. J Assist Reprod Genet. 2024 Jan;41(1):109-120. doi: 10.1007/s10815-023-02966-x. Epub 2023 Oct 13. J Assist Reprod Genet. 2024. PMID: 37831349

6

Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family.

Hussain HMJ, Murtaza G, Jiang X, Khan R, Khan M, Kakakhel MBS, Khan T, Wahab F, Zhang H, Zhang Y, Khan MB, Ahmed P, Ma H, Xu Z. Hussain HMJ, et al. Among authors: khan r, khan t, khan mb, khan m. Horm Res Paediatr. 2019;91(1):9-16. doi: 10.1159/000497114. Epub 2019 Apr 4. Horm Res Paediatr. 2019. PMID: 30947225 Clinical Trial.

7

Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family.

Ullah A, Khan R, Naeem M. Ullah A, et al. Among authors: khan r. J Pediatr Endocrinol Metab. 2019 Dec 18;32(12):1385-1389. doi: 10.1515/jpem-2019-0276. J Pediatr Endocrinol Metab. 2019. PMID: 31483760

8

In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.

Jafar Hussain HM, Khan R, Li C, Aftab A, Muneer I, Wahab F, Wu L, Jiang X, Xu P. Jafar Hussain HM, et al. Among authors: khan r. Ann Clin Lab Sci. 2019 Nov;49(6):710-721. Ann Clin Lab Sci. 2019. PMID: 31882421

9

Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.

Zhang B, Khan I, Liu C, Ma A, Khan A, Zhang Y, Zhang H, Kakakhel MBS, Zhou J, Zhang W, Li Y, Ali A, Jiang X, Murtaza G, Khan R, Zubair M, Yuan L, Khan M, Wang L, Zhang F, Wang X, Ma H, Shi Q. Zhang B, et al. Among authors: khan r, khan a, khan m, khan i. Clin Genet. 2021 Jan;99(1):176-186. doi: 10.1111/cge.13866. Epub 2020 Nov 2. Clin Genet. 2021. PMID: 33070343

10

Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans.

Fan S, Jiao Y, Khan R, Jiang X, Javed AR, Ali A, Zhang H, Zhou J, Naeem M, Murtaza G, Li Y, Yang G, Zaman Q, Zubair M, Guan H, Zhang X, Ma H, Jiang H, Ali H, Dil S, Shah W, Ahmad N, Zhang Y, Shi Q. Fan S, et al. Among authors: khan r. Am J Hum Genet. 2021 Feb 4;108(2):324-336. doi: 10.1016/j.ajhg.2021.01.010. Epub 2021 Jan 27. Am J Hum Genet. 2021. PMID: 33508233 Free PMC article.

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