Zubair M - Search Results

1

Homozygosity mapping coupled with whole-exome sequencing and protein modelling identified a novel missense mutation in GUCY2D in a consanguineous Pakistani family with Leber congenital amaurosis.

Gul H, Haleem Shah A, Harripaul R, Wajid Abbasi S, Faheem M, Zubair M, Muzammal M, Khan S, B Vincent J, Ahmad Khan M. Gul H, et al. Among authors: zubair m. J Genet. 2021;100:57. J Genet. 2021. PMID: 34470921 Free article.

2

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.

Khan MA, Mohan S, Zubair M, Windpassinger C. Khan MA, et al. Among authors: zubair m. BMC Med Genet. 2016 Feb 4;17:10. doi: 10.1186/s12881-016-0271-9. BMC Med Genet. 2016. PMID: 26846096 Free PMC article.

3

Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing.

Gul H, Ali MZ, Khan E, Zubair M, Badar M, Khan S, Shah AH, Khan MA. Gul H, et al. Among authors: zubair m. J Pak Med Assoc. 2017 May;67(5):790-792. J Pak Med Assoc. 2017. PMID: 28507374

4

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.

Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, Khan S, Badar M, Mohammad RM, Nawaz Z. Khan MA, et al. Among authors: zubair m. J Genet. 2017 Jun;96(2):383-387. doi: 10.1007/s12041-017-0759-x. J Genet. 2017. PMID: 28674240 Free article.

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: zubair 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

Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations.

Gul H, Shah AH, Harripaul R, Mikhailov A, Prajapati K, Khan E, Ullah F, Zubair M, Ali MZ, Shah AH, Salman S, Khan S, Vincent JB, Khan MA. Gul H, et al. Among authors: zubair m. Ann Hum Genet. 2019 Jul;83(4):278-284. doi: 10.1111/ahg.12307. Epub 2019 Mar 13. Ann Hum Genet. 2019. PMID: 30868578

7

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Muzammal M, Zubair M, Bierbaumer S, Blatterer J, Graf R, Gul A, Abbas S, Badar M, Abbasi AA, Khan MA, Windpassinger C. Muzammal M, et al. Among authors: zubair m. Mol Genet Genomic Med. 2019 Aug;7(8):e834. doi: 10.1002/mgg3.834. Epub 2019 Jul 11. Mol Genet Genomic Med. 2019. PMID: 31294530 Free PMC article.

8

Exome sequencing of a Pakistani family with spastic paraplegia identified an 18 bp deletion in the cytochrome B5 domain of FA2H.

Abbas S, Brugger B, Zubair M, Gul S, Blatterer J, Wenninger J, Rehman K, Tatrai B, Khan MA, Windpassinger C. Abbas S, et al. Among authors: zubair m. Neurol Res. 2021 Feb;43(2):133-140. doi: 10.1080/01616412.2020.1831329. Epub 2020 Nov 27. Neurol Res. 2021. PMID: 33246395

9

In silico analysis of a novel pathogenic variant c.7G > A in C14orf39 gene identified by WES in a Pakistani family with azoospermia.

Ali H, Unar A, Zubair M, Dil S, Ullah F, Khan I, Hussain A, Shi Q. Ali H, et al. Among authors: zubair m. Mol Genet Genomics. 2022 May;297(3):719-730. doi: 10.1007/s00438-022-01876-4. Epub 2022 Mar 19. Mol Genet Genomics. 2022. PMID: 35305148

10

A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans.

Xie X, Khan M, Zubair M, Khan A, Khan R, Zhou J, Zhang Y, Said M, Khan SA, Zaman Q, Murtaza G, Khan MA, Liu W, Hou X, Zhang H, Xu B, Jiang X, Bai S, Shi Q. Xie X, et al. Among authors: zubair m. Front Genet. 2022 Sep 30;13:1017302. doi: 10.3389/fgene.2022.1017302. eCollection 2022. Front Genet. 2022. PMID: 36246621 Free PMC article.

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