A DNAH17 missense variant causes flagella destabilization and asthenozoospermia B Zhang, H Ma, T Khan, A Ma, T Li, H Zhang, J Gao, J Zhou, Y Li, C Yu, ... Journal of Experimental Medicine 217 (2), 2020 | 105 | 2020 |
A homozygous FANCM frameshift pathogenic variant causes male infertility H Yin, H Ma, S Hussain, H Zhang, X Xie, L Jiang, X Jiang, F Iqbal, ... Genetics in Medicine 21 (1), 62-70, 2019 | 90 | 2019 |
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans S Fan, Y Jiao, R Khan, X Jiang, AR Javed, A Ali, H Zhang, J Zhou, ... The American Journal of Human Genetics 108 (2), 324-336, 2021 | 59 | 2021 |
Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice B Zhang, I Khan, C Liu, A Ma, A Khan, Y Zhang, H Zhang, MBS Kakakhel, ... Clinical Genetics 99 (1), 176-186, 2021 | 35 | 2021 |
Genetic analysis of consanguineous families presenting with congenital ocular defects E Ullah, MAN Saqib, S Sajid, N Shah, M Zubair, MA Khan, I Ahmed, G Ali, ... Experimental eye research 146, 163-171, 2016 | 25 | 2016 |
Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene MA Khan, C Windpassinger, MZ Ali, M Zubair, H Gul, S Abbas, S Khan, ... Journal of Genetics 96, 383-387, 2017 | 19 | 2017 |
Mechanisms of gene regulation by histone degradation in adaptation of yeast: an overview of recent advances SU Khan, MU Khan, F Kalsoom, MI Khan, S Gao, A Unar, M Zubair, ... Archives of Microbiology 204 (5), 287, 2022 | 18 | 2022 |
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl … MA Khan, S Mohan, M Zubair, C Windpassinger BMC medical genetics 17, 1-6, 2016 | 16 | 2016 |
Unique therapeutic potentialities of exosomes based nanodrug carriers to target tumor microenvironment in cancer therapy SU Khan, MU Khan, Y Gao, MI Khan, SM Puswal, M Zubair, MA Khan, ... Opennano 8, 100091, 2022 | 14 | 2022 |
Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families I Khan, B Shah, S Dil, N Ullah, JT Zhou, DR Zhao, YW Zhang, XH Jiang, ... Asian Journal of Andrology 23 (6), 627-632, 2021 | 13 | 2021 |
Evolutionarily conserved and testis-specific gene, 4930524B15Rik, is not essential for mouse spermatogenesis and fertility R Khan, J Ye, A Yousaf, W Shah, A Aftab, B Shah, Q Zaman, M Zubair, ... Molecular biology reports 47, 5207-5213, 2020 | 13 | 2020 |
Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees X Xie, G Murtaza, Y Li, J Zhou, J Ye, R Khan, L Jiang, I Khan, M Zubair, ... Human Reproduction 37 (7), 1664-1677, 2022 | 12 | 2022 |
A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms M Zubair, R Khan, A Ma, U Hameed, M Khan, T Abbas, R Ahmad, JT Zhou, ... Asian Journal of Andrology 24 (3), 255-259, 2022 | 12 | 2022 |
Ophthalmo-genetic analysis of Pakistani patients with nonsyndromic oculocutaneous albinism through whole exome sequencing H Gul, MZ Ali, E Khan, M Zubair, M Badar, S Khan, AH Shah, MA Khan J. Pak. Med. Assoc 67 (5), 790-792, 2017 | 12 | 2017 |
Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice R Khan, Q Zaman, J Chen, M Khan, A Ma, J Zhou, B Zhang, A Ali, ... Frontiers in Endocrinology 12, 765639, 2021 | 11 | 2021 |
Exome sequence analysis in consanguineous Pakistani families inheriting Bardet‐Biedle syndrome determined founder effect of mutation c. 299delC (p. Ser100Leufs* 24) in BBS9 gene M Muzammal, M Zubair, S Bierbaumer, J Blatterer, R Graf, A Gul, S Abbas, ... Molecular Genetics & Genomic Medicine 7 (8), e834, 2019 | 9 | 2019 |
Genetic studies of multiple consanguineous Pakistani families segregating oculocutaneous albinism identified novel and reported mutations H Gul, AH Shah, R Harripaul, A Mikhailov, K Prajapati, E Khan, F Ullah, ... Annals of Human Genetics 83 (4), 278-284, 2019 | 9 | 2019 |
A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family S Dil, A Khan, A Unar, ML Yang, I Ali, A Zeb, H Zhang, JT Zhou, M Zubair, ... Asian Journal of Andrology 25 (3), 350-355, 2023 | 8 | 2023 |
Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice A Ma, J Zhou, H Ali, T Abbas, I Ali, Z Muhammad, S Dil, J Chen, X Huang, ... JCI insight 8 (3), 2023 | 8 | 2023 |
A novel stop-gain mutation in ARMC2 is associated with multiple morphological abnormalities of the sperm flagella I Khan, S Dil, H Zhang, B Zhang, T Khan, A Zeb, J Zhou, S Nawaz, ... Reproductive BioMedicine Online 43 (5), 913-919, 2021 | 8 | 2021 |