Khan S - Search Results

1

A novel pathogenic missense variant in CNNM4 underlying Jalili syndrome: Insights from molecular dynamics simulations.

Parveen A, Mirza MU, Vanmeert M, Akhtar J, Bashir H, Khan S, Shehzad S, Froeyen M, Ahmed W, Ansar M, Wasif N. Parveen A, et al. Among authors: khan s. Mol Genet Genomic Med. 2019 Sep;7(9):e902. doi: 10.1002/mgg3.902. Epub 2019 Jul 25. Mol Genet Genomic Med. 2019. PMID: 31347285 Free PMC article.

2

A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

Lee K, Khan S, Ansar M, Santos-Cortez RL, Ahmad W, Leal SM. Lee K, et al. Among authors: khan s. Genet Res Int. 2011;2011:368915. doi: 10.4061/2011/368915. Epub 2011 Sep 25. Genet Res Int. 2011. PMID: 22567352 Free PMC article.

3

Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia.

Mir H, Khan S, Arif MS, Ali G, Wali A, Ansar M, Ahmad W. Mir H, et al. Among authors: khan s. Eur J Dermatol. 2012 Nov-Dec;22(6):736-9. doi: 10.1684/ejd.2012.1852. Eur J Dermatol. 2012. PMID: 23149345

4

Whole exome sequencing identified a novel zinc-finger gene ZNF141 associated with autosomal recessive postaxial polydactyly type A.

Kalsoom UE, Klopocki E, Wasif N, Tariq M, Khan S, Hecht J, Krawitz P, Mundlos S, Ahmad W. Kalsoom UE, et al. Among authors: khan s. J Med Genet. 2013 Jan;50(1):47-53. doi: 10.1136/jmedgenet-2012-101219. Epub 2012 Nov 17. J Med Genet. 2013. PMID: 23160277

5

Whole exome sequencing identifies a novel dominant missense mutation underlying leukonychia in a Pakistani family.

Khan T, Khan M, Yousaf A, Khan S, Naeem M, Shah A, Murtaza G, Ali A, Jabeen N, Hussain HMJ, Ma H, Zhang Y, Zubair M, Jiang X, Zhang H. Khan T, et al. Among authors: khan s, khan m. J Hum Genet. 2018 Oct;63(10):1071-1076. doi: 10.1038/s10038-018-0491-2. Epub 2018 Jul 23. J Hum Genet. 2018. PMID: 30033443 Clinical Trial.

6

Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.

Santos-Cortez RLP, Khan V, Khan FS, Mughal ZU, Chakchouk I, Lee K, Rasheed M, Hamza R, Acharya A, Ullah E, Saqib MAN, Abbe I, Ali G, Hassan MJ, Khan S, Azeem Z, Ullah I, Bamshad MJ, Nickerson DA, Schrauwen I, Ahmad W, Ansar M, Leal SM. Santos-Cortez RLP, et al. Among authors: khan s, khan v, khan fs. Hum Genet. 2018 Sep;137(9):735-752. doi: 10.1007/s00439-018-1928-6. Epub 2018 Aug 22. Hum Genet. 2018. PMID: 30167849 Free PMC article.

7

Variants in KIAA0825 underlie autosomal recessive postaxial polydactyly.

Ullah I, Kakar N, Schrauwen I, Hussain S, Chakchouk I, Liaqat K, Acharya A, Wasif N, Santos-Cortez RLP, Khan S, Aziz A, Lee K, Couthouis J, Horn D, Kragesteen BK, Spielmann M, Thiele H, Nickerson DA, Bamshad MJ, Gitler AD, Ahmad J, Ansar M, Borck G, Ahmad W, Leal SM. Ullah I, et al. Among authors: khan s. Hum Genet. 2019 Jun;138(6):593-600. doi: 10.1007/s00439-019-02000-0. Epub 2019 Apr 13. Hum Genet. 2019. PMID: 30982135 Free PMC article.

8

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

Parveen A, Khan SA, Mirza MU, Bashir H, Arshad F, Iqbal M, Ahmad W, Wahab A, Fiaz A, Naz S, Ashraf F, Mobeen T, Aziz S, Ahmed SS, Muhammad N, Hassib NF, Mostafa MI, Gaboon NE, Gul R, Khan S, Froeyen M, Shoaib M, Wasif N. Parveen A, et al. Among authors: khan s, khan sa. Int J Mol Sci. 2019 Oct 24;20(21):5282. doi: 10.3390/ijms20215282. Int J Mol Sci. 2019. PMID: 31652981 Free PMC article.

9

A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.

Khan SA, Khan MA, Muhammad N, Bashir H, Khan N, Muhammad N, Yilmaz R, Khan S, Wasif N. Khan SA, et al. Among authors: khan s, khan n, khan ma. BMC Med Genet. 2020 May 7;21(1):97. doi: 10.1186/s12881-020-01038-6. BMC Med Genet. 2020. PMID: 32380970 Free PMC article.

10

Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.

Fozia F, Nazli R, Bibi N, Khan SA, Muhammad N, Shakeeb N, Khan S, Jelani M, Wasif N. Fozia F, et al. Among authors: khan s, khan sa. Front Pediatr. 2021 Aug 3;9:727288. doi: 10.3389/fped.2021.727288. eCollection 2021. Front Pediatr. 2021. PMID: 34414147 Free PMC article.

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