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Functional impact assessment of tissue-specific missense variants in the PTPRH gene using a multi-tool computational framework. Cancer Genet. 2026 Apr; 302-303:50-61. Naseem AA, Khan R, Hameed U. PMID: 41570449.
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A novel mutation in CFAP58 leads to MMAF in humans and mice by disrupting CP assembly. Hum Mol Genet. 2025 Sep 03; 34(18):1575-1583. Abbas T, Zhang H, Yin H, Ao M, Jingwei Y, Ahmad N, Khan R, Murtaza G, Hussain A, Dawar FR, Ali I, Zeb A, Shah W, Ma H, Zhang Y, Shi Q. PMID: 40675161.
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Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice. Elife. 2025 Mar 27; 13. Yang M, Hussain HMJ, Khan M, Muhammad Z, Zhou J, Ma A, Huang X, Ye J, Chen M, Zhi A, Liu T, Khan R, Asim A, Shah W, Zeb A, Ahmad N, Zhang H, Xu B, Ma H, Shi Q, Shi B. PMID: 40146200; PMCID: PMC11949491.
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Decoding the Genes Orchestrating Egg and Sperm Fusion Reactions and Their Roles in Fertility. Biomedicines. 2024 Dec 15; 12(12). Khan R, Azhar M, Umair M. PMID: 39767756; PMCID: PMC11673484.
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AF1q is a universal marker of neuroblastoma that sustains N-Myc expression and drives tumorigenesis. Oncogene. 2024 04; 43(16):1203-1213. Oskouian B, Lee JY, Asgharzadeh S, Khan R, Zhang M, Weisbrod JR, Choi YJ, Puri L, Aguilar AE, Zhao P, Saba JD. PMID: 38413795; PMCID: PMC11014797.
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Gene therapy with AAV9-SGPL1 in an animal model of lung fibrosis. J Pathol. 2024 05; 263(1):22-31. Bhattacharyya A, Khan R, Lee JY, Tassew G, Oskouian B, Allende ML, Proia RL, Yin X, Ortega JG, Bhattacharya M, Saba JD. PMID: 38332723; PMCID: PMC10987276.
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AAV-SPL 2.0, a Modified Adeno-Associated Virus Gene Therapy Agent for the Treatment of Sphingosine Phosphate Lyase Insufficiency Syndrome. Int J Mol Sci. 2023 Oct 25; 24(21). Khan R, Oskouian B, Lee JY, Hodgin JB, Yang Y, Tassew G, Saba JD. PMID: 37958544; PMCID: PMC10648410.
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A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella. J Assist Reprod Genet. 2024 Jan; 41(1):109-120. 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. PMID: 37831349; PMCID: PMC10789708.
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Comparative study of microscale and macroscale technique for encapsulation of Calotropis gigantea extract in metal-conjugated nanomatrices for invasive ductal carcinoma. Sci Rep. 2023 08 18; 13(1):13474. Aftab A, Ahmad B, Bashir S, Rafique S, Bashir M, Ghani T, Gul A, Shah AU, Khan R, Sajini AA. PMID: 37596340; PMCID: PMC10439222.
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A recessive ACTL7A founder variant leads to male infertility due to acrosome detachment in Pakistani Pashtuns. Clin Genet. 2023 11; 104(5):564-570. Zhou J, Zhang B, Zeb A, Ma A, Chen J, Zhao D, Rahim F, Khan R, Zhang H, Zhang Y, Khan I, Kakakhel MBS, Khan A, Shah W, Jiang X, Zhang F, Yang X, Xiao J, Xu B, Ma H, Shi Q. PMID: 37286336.
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Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humans. Hum Reprod Open. 2023; 2023(3):hoad022. Shi B, Shah W, Liu L, Gong C, Zhou J, Abbas T, Ma H, Zhang H, Yang M, Zhang Y, Ullah N, Mahammad Z, Khan M, Murtaza G, Ali A, Khan R, Sha J, Yuan Y, Shi Q. PMID: 37325547; PMCID: PMC10266965.
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Cornichon protein CNIH4 is not essential for mice gametogenesis and fertility. Dev Biol. 2023 04; 496:15-23. Dil S, Ye J, Ma H, Unar A, Khan I, Ali A, Khan K, Menglei Y, Ma A, Shah B, Khan R, Liu Z, Shi Q. PMID: 36657507.
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A homozygous missense variant in DND1 causes non-obstructive azoospermia in humans. Front Genet. 2022; 13:1017302. 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. PMID: 36246621; PMCID: PMC9561125.
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CFTR mutations causing congenital unilateral absence of the vas deferens (CUAVD) and congenital absence of the uterus (CAU) in a consanguineous family. Asian J Androl. 2022 Jul-Aug; 24(4):416-421. Ghouchanatigh MD, Khan R, Mojarrad M, Hameed U, Zubair M, Waqas A, Jalali M, Kalantari M, Shamsa A, Zhang H, Shi QH. PMID: 34755701; PMCID: PMC9295469.
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Biallelic HFM1 variants cause non-obstructive azoospermia with meiotic arrest in humans by impairing crossover formation to varying degrees. Hum Reprod. 2022 06 30; 37(7):1664-1677. Xie X, Murtaza G, Li Y, Zhou J, Ye J, Khan R, Jiang L, Khan I, Zubair M, Yin H, Jiang H, Liu W, Shi B, Hou X, Gong C, Fan S, Wang Y, Jiang X, Zhang Y, Zhang H, Ma H, Shi Q. PMID: 35526155.
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A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSγ Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals. Int J Mol Sci. 2022 Jun 10; 23(12). Gong C, Abbas T, Muhammad Z, Zhou J, Khan R, Ma H, Zhang H, Shi Q, Shi B. PMID: 35742973; PMCID: PMC9224491.
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A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms. Asian J Androl. 2022 May-Jun; 24(3):255-259. Zubair M, Khan R, Ma A, Hameed U, Khan M, Abbas T, Ahmad R, Zhou JT, Shah W, Hussain A, Ahmed N, Khan I, Khan K, Zhang YW, Zhang H, Wu LM, Shi QH. PMID: 35259782; PMCID: PMC9226689.
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DNAzyme signal amplification based on Au@Ag core-shell nanorods for highly sensitive SERS sensing miRNA-21. Anal Bioanal Chem. 2022 Jun; 414(14):4079-4088. Xu W, Zhang Y, Chen H, Dong J, Khan R, Shen J, Liu H. PMID: 35419693.
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ZFP541 maintains the repression of pre-pachytene transcriptional programs and promotes male meiosis progression. Cell Rep. 2022 03 22; 38(12):110540. Xu J, Gao J, Liu J, Huang X, Zhang H, Ma A, Ye J, Zhang X, Li Y, Yang G, Yin H, Khan R, Li T, Fan S, Jiang X, Zhang Y, Jiang H, Ma H, Shi Q. PMID: 35320728.
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Identification of Frameshift Variants in POLH Gene Causing Xeroderma Pigmentosum in Two Consanguineous Pakistani Families. Genes (Basel). 2022 03 19; 13(3). Zamani GY, Khan R, Karim N, Ahmed ZM, Naeem M. PMID: 35328096; PMCID: PMC8955859.
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Computationally predicted pathogenic USP9X mutation identified in infertile men does not affect spermatogenesis in mice. Zool Res. 2022 03 18; 43(2):225-228. Liu W, Wang YW, Zhang H, Xie XF, Ma A, Zaman Q, Javed AR, Abbas T, Shah W, Ahmad R, Zhao DR, Ma H, Zubair M, Khan R, Shi QH. PMID: 35084129; PMCID: PMC8920844.
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Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility. Front Cell Dev Biol. 2021; 9:803818. Ma A, Zeb A, Ali I, Zhao D, Khan A, Zhang B, Zhou J, Khan R, Zhang H, Zhang Y, Khan I, Shah W, Ali H, Javed AR, Ma H, Shi Q. PMID: 35174165; PMCID: PMC8841411.
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Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice. Front Endocrinol (Lausanne). 2021; 12:765639. Khan R, Zaman Q, Chen J, Khan M, Ma A, Zhou J, Zhang B, Ali A, Naeem M, Zubair M, Zhao D, Shah W, Khan M, Zhang Y, Xu B, Zhang H, Shi Q. PMID: 34867808; PMCID: PMC8635859.
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The molecular control of meiotic double-strand break (DSB) formation and its significance in human infertility. Asian J Androl. 2021 Nov-Dec; 23(6):555-561. Li Y, Wu YF, Jiang HW, Khan R, Han QQ, Iqbal F, Jiang XH, Shi QH. PMID: 33586697; PMCID: PMC8577252.
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Novel biallelic loss-of-function mutations in CFAP43 cause multiple morphological abnormalities of the sperm flagellum in Pakistani families. Asian J Androl. 2021 Nov-Dec; 23(6):627-632. Khan I, Shah B, Dil S, Ullah N, Zhou JT, Zhao DR, Zhang YW, Jiang XH, Khan R, Khan A, Ali H, Zubair M, Shah W, Zhang H, Shi QH. PMID: 34100391; PMCID: PMC8577262.
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Identification and Functional Investigation of Novel Heterozygous HELQ Mutations in Patients with Sertoli Cell-only Syndrome. Genet Test Mol Biomarkers. 2021 Oct; 25(10):654-659. Murtaza G, Yang L, Khan I, Unar A, Khan M, Huan Z, Khan R, Shi Q. PMID: 34672775.
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Nuclear translocation of MTL5 from cytoplasm requires its direct interaction with LIN9 and is essential for male meiosis and fertility. PLoS Genet. 2021 08; 17(8):e1009753. Zhang X, Li M, Jiang X, Ma H, Fan S, Li Y, Yu C, Xu J, Khan R, Jiang H, Shi Q. PMID: 34388164; PMCID: PMC8386835.
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The evolutionarily conserved gene, Fam114a2, is dispensable for fertility in mouse. Reprod Biol. 2021 Sep; 21(3):100531. Khan A, Yuewen W, Dil S, Shah W, Shi Q, Khan R. PMID: 34315090.
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The Molecular Mechanism of Sex Hormones on Sertoli Cell Development and Proliferation. Front Endocrinol (Lausanne). 2021; 12:648141. Shah W, Khan R, Shah B, Khan A, Dil S, Liu W, Wen J, Jiang X. PMID: 34367061; PMCID: PMC8344352.
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Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X. Eur J Med Genet. 2021 Sep; 64(9):104283. Nayab A, Alam Q, Alzahrani OR, Khan R, Sarfaraz S, Albaz AA, Rafeeq MM, Sain ZM, Waqas A, Umair M. PMID: 34237446.
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Knockout of the family with sequence similarity 181, member A (Fam181a) gene does not impair spermatogenesis or male fertility in the mouse. Reprod Fertil Dev. 2021 Jul; 33:674-681. Shah W, Khan R, Shah B, Dil S, Shi Q. PMID: 34253288.
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The Dispensable Roles of X-Linked Ubl4a and Its Autosomal Counterpart Ubl4b in Spermatogenesis Represent a New Evolutionary Type of X-Derived Retrogenes. Front Genet. 2021; 12:689902. Yu C, Diao R, Khan R, Deng C, Ma H, Chang Z, Jiang X, Shi Q. PMID: 34249105; PMCID: PMC8267814.
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Inactivation of testis-specific gene C4orf46 is dispensable for spermatogenesis and fertility in mouse. Mamm Genome. 2021 10; 32(5):364-370. Shah B, Khan R, Shah W, Aftab A, Khan M, Dil S, Shi Q. PMID: 34076717.
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Role of Lipid Metabolism and Signaling in Mammalian Oocyte Maturation, Quality, and Acquisition of Competence. Front Cell Dev Biol. 2021; 9:639704. Khan R, Jiang X, Hameed U, Shi Q. PMID: 33748128; PMCID: PMC7973101.
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Computational analysis of Cyclin D1 gene SNPs and association with breast cancer. Biosci Rep. 2021 01 29; 41(1). Aftab A, Khan R, Shah W, Azhar M, Unar A, Jafar Hussain HM, Waqas A. PMID: 33438725; PMCID: PMC7846961.
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Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans. Am J Hum Genet. 2021 02 04; 108(2):324-336. 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. PMID: 33508233; PMCID: PMC7895996.
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Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice. Clin Genet. 2021 01; 99(1):176-186. 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. PMID: 33070343.
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Exonuclease 5 is dispensable for meiotic progression and male fertility in mouse. Gene. 2021 Feb 15; 769:145254. Zaman Q, Khan R, Hameed U, Shah W, Waqas A, Zubair M, Dil S, Zafar T, Ali A, Unar A, Shi Q. PMID: 33164760.
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Normal spermatogenesis and fertility in Ddi1 (DNA damage inducible 1) mutant mice. Reprod Biol. 2020 Dec; 20(4):520-524. Yousaf A, Wu Y, Khan R, Shah W, Khan I, Shi Q, Jiang X. PMID: 33092996.
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Possible Potential Outcomes from COVID-19 Complications on Testes: Lesson from SARS Infection. J Coll Physicians Surg Pak. 2020 10; 30(10):118-120. Khan R, Naseem T, Hussain MJ, Hussain MA, Malik SS. PMID: 33115584.
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Correlation of MSH2 exonic deletions and protein downregulation with breast cancer biomarkers and outcome in Pakistani women/patients. Environ Sci Pollut Res Int. 2021 Jan; 28(3):3066-3077. Malik SS, Mubarik S, Aftab A, Khan R, Masood N, Asif M, Bano R. PMID: 32902747.
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A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertility. Sci Bull (Beijing). 2020 Dec 30; 65(24):2120-2129. Jiao Y, Fan S, Jabeen N, Zhang H, Khan R, Murtaza G, Jiang H, Ali A, Li Y, Bao J, Zhang B, Xu J, Xu B, Hussain HMJ, Zaman Q, Khan I, Bukhari I, Iqbal F, Yousaf A, Dil S, Khan M, Ahmad N, Ma H, Jiang X, Zhang Y, Shi Q. PMID: 36732965.
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Evolutionarily conserved and testis-specific gene, 4930524B15Rik, is not essential for mouse spermatogenesis and fertility. Mol Biol Rep. 2020 Jul; 47(7):5207-5213. Khan R, Ye J, Yousaf A, Shah W, Aftab A, Shah B, Zaman Q, Zubair M, Shi Q, Jiang X. PMID: 32592116.
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The testis-specific LINC component SUN3 is essential for sperm head shaping during mouse spermiogenesis. J Biol Chem. 2020 05 08; 295(19):6289-6298. Gao Q, Khan R, Yu C, Alsheimer M, Jiang X, Ma H, Shi Q. PMID: 32156700; PMCID: PMC7212666.
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A DNAH17 missense variant causes flagella destabilization and asthenozoospermia. J Exp Med. 2020 02 03; 217(2). Zhang B, Ma H, Khan T, Ma A, Li T, Zhang H, Gao J, Zhou J, Li Y, Yu C, Bao J, Ali A, Murtaza G, Yin H, Gao Q, Jiang X, Zhang F, Liu C, Khan I, Zubair M, Hussain HMJ, Khan R, Yousaf A, Yuan L, Lu Y, Xu X, Wang Y, Tao Q, Hao Q, Fang H, Cheng H, Zhang Y, Shi Q. PMID: 31658987; PMCID: PMC7041708.
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Whole exome sequencing identified a heterozygous KCNJ2 missense variant underlying autosomal dominant familial hypokalemic periodic paralysis in a Pakistani family. J Pediatr Endocrinol Metab. 2019 Dec 18; 32(12):1385-1389. Ullah A, Khan R, Naeem M. PMID: 31483760.
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DDB1 Regulates Sertoli Cell Proliferation and Testis Cord Remodeling by TGFβ Pathway. Genes (Basel). 2019 11 26; 10(12). Zheng W, Nazish J, Wahab F, Khan R, Jiang X, Shi Q. PMID: 31779270; PMCID: PMC6947845.
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In-silico Analyses of Disease Causing Mutations in SLURP1 Gene. Ann Clin Lab Sci. 2019 Nov; 49(6):710-721. Jafar Hussain HM, Khan R, Li C, Aftab A, Muneer I, Wahab F, Wu L, Jiang X, Xu P. PMID: 31882421.
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Identification of CDKN2A variants in breast cancer patients in Pakistan. Genes Genet Syst. 2019 Jul 27; 94(3):117-122. Khan R, Aftab A, Tabassum S, Hussain HMJ, Hameed A, Mahmood H, Munir F, Bukhari I. PMID: 31231091.
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The testis-specifically expressed Dpep3 is not essential for male fertility in mice. Gene. 2019 Aug 30; 711:143925. Xie Y, Khan R, Wahab F, Hussain HMJ, Ali A, Ma H, Jiang H, Xu J, Zaman Q, Khan M, Jiang X, Shi Q. PMID: 31212048.
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Whole Exome Sequencing Revealed a Novel Nonsense Variant in the GNRHR Gene Causing Normosmic Hypogonadotropic Hypogonadism in a Pakistani Family. Horm Res Paediatr. 2019; 91(1):9-16. 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. PMID: 30947225.
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The deubiquitinating gene Usp29 is dispensable for fertility in male mice. Sci China Life Sci. 2019 Apr; 62(4):544-552. Huang Z, Khan M, Xu J, Khan T, Ma H, Khan R, Hussain HMJ, Jiang X, Shi Q. PMID: 30919279.
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TP53LNC-DB, the database of lncRNAs in the p53 signalling network. Database (Oxford). 2019 01 01; 2019. Khan MR, Bukhari I, Khan R, Hussain HMJ, Wu M, Thorne RF, Li J, Liu G. PMID: 30624647; PMCID: PMC6323480.
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CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis. Breast Cancer. 2019 Jan; 26(1):11-28. Aftab A, Shahzad S, Hussain HMJ, Khan R, Irum S, Tabassum S. PMID: 30039340.
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The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in mice. Sci Rep. 2018 03 21; 8(1):4975. Khan M, Jabeen N, Khan T, Hussain HMJ, Ali A, Khan R, Jiang L, Li T, Tao Q, Zhang X, Yin H, Yu C, Jiang X, Shi Q. PMID: 29563520; PMCID: PMC5862965.
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