Computational analyses of RPIA gene mutation causing Ribose-5-phosphate isomerase deficiency: a rarest known metabolic disorder in humans by Muhammad Muzammal, Sana Fatima, Aisha Gul, Junaid Qayum, Arshad Farid, Safeer Ahmad, Wasim Shah, Muzammil Ahmad Khan

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A novel missense mutation of CCDC34 causes male infertility with oligoasthenoteratozoospermia in a consanguineous Pakistani family by Nisar Ahmad, Meng-Lei Yang, Aurang Zeb, Jian-Teng Zhou, Muhammad Zubair, Tanveer Abbas, Xiao-Hua Jiang, Yuan-Wei Zhang, Huan Zhang, Wasim Shah, Qing-Hua Shi

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Biallelic Variants in CFAP61 Cause Multiple Morphological Abnormalities of the Flagella and Male Infertility by Ao Ma, Aurang Zeb, Imtiaz Ali, Daren Zhao, Asad Khan, Beibei Zhang, Jianteng Zhou, Ranjha Khan, Huan Zhang, Yuanwei Zhang, Ihsan Khan, Wasim Shah, Haider Ali, Abdul Rafay Javed, Hui Ma, Qinghua Shi

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A novel homozygous TSGA10 missense variant causes acephalic spermatozoa syndrome in a Pakistani family by Khalid Khan, Xiangjun Zhang, Sobia Dil, Ihsan Khan, Ahsanullah Unar, Jingwei Ye, Aurang Zeb, Muhammad Zubair, Wasim Shah, Huan Zhang, Muzammil Ahmad Khan, Limin Wu, Bo Xu, Hui Ma, Zina Wen, Qinghua Shi

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Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice by Ranjha Khan, Qumar Zaman, Jing Chen, Manan Khan, Ao Ma, Jianteng Zhou, Beibei Zhang, Asim Ali, Muhammad Naeem, Muhammad Zubair, Daren Zhao, Wasim Shah, Mazhar Khan, Yuanwei Zhang, Bo Xu, Huan Zhang, Qinghua Shi

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A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms by Muhammad Zubair, Ranjha Khan, Ao Ma, Uzma Hameed, Mazhar Khan, Tanveer Abbas, Riaz Ahmad, Jian-Teng Zhou, Wasim Shah, Ansar Hussain, Nisar Ahmed, Ihsan Khan, Khalid Khan, Yuan-Wei Zhang, Huan Zhang, Li-Min Wu, Qing-Hua Shi

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Novel homozygous SPAG17 variants cause human male infertility through multiple morphological abnormalities of spermatozoal flagella related to axonemal microtubule doublets by Tao Liu, Fazal Rahim, Meng-Lei Yang, Meftah Uddin, Jing-Wei Ye, Imtiaz Ali, Yousaf Raza, Abu Mansoor, Muhammad Shoaib, Mujahid Hussain, Ihsan Khan, Basit Shah, Asad Khan, Ahmad Nisar, Hui Ma, Bo Xu, Wasim Shah, Qing-Hua Shi

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A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani families by Ansar Hussain, Huan Zhang, Muhammad Zubair, Wasim Shah, Khalid Khan, Imtiaz Ali, Yousaf Raza, Aurang Zeb, Tanveer Abbas, Nisar Ahmed, Fazal Rahim, Ghulam Mustafa, Meftah Uddin, Nadeem Ullah, Musavir Abbas, Muzammil Ahmad Khan, Hui Ma, Bo Yang, Qing-Hua Shi

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A novel recombination protein C12ORF40/REDIC1 is required for meiotic crossover formation by Suixing Fan, Yuewen Wang, Hanwei Jiang, Xiaohua Jiang, Jianteng Zhou, Yuying Jiao, Jingwei Ye, Zishuo Xu, Yue Wang, Xuefeng Xie, Huan Zhang, Yang Li, Wei Liu, Xiangjun Zhang, Hui Ma, Baolu Shi, Yuanwei Zhang, Muhammad Zubair, Wasim Shah, Zhipeng Xu, Bo Xu, Qinghua Shi

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Loss-of-function mutations in CFAP57 cause multiple morphological abnormalities of the flagella in humans and mice by Ao Ma, Jianteng Zhou, Haider Ali, Tanveer Abbas, Imtiaz Ali, Zubair Muhammad, Sobia Dil, Jing Chen, Xiongheng Huang, Hui Ma, Daren Zhao, Beibei Zhang, Yuanwei Zhang, Wasim Shah, Basit Shah, Ghulam Murtaza, Furhan Iqbal, Muzammil Ahmad Khan, Asad Khan, Qing Li, Bo Xu, Limin Wu, Huan Zhang, Qinghua Shi

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Loss-of-function variants in KCTD19 cause non-obstructive azoospermia in humans by Junyan Liu, Fazal Rahim, Jianteng Zhou, Suixing Fan, Hanwei Jiang, Changping Yu, Jing Chen, Jianze Xu, Gang Yang, Wasim Shah, Muhammad Zubair, Asad Khan, Yang Li, Basit Shah, Daren Zhao, Furhan Iqbal, Xiaohua Jiang, Tonghang Guo, Peng Xu, Bo Xu, Limin Wu, Hui Ma, Yuanwei Zhang, Huan Zhang, Qinghua Shi

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