Bi-allelic DNAH8 variants lead to multiple morphological abnormalities of the sperm flagella and primary male infertility C Liu, H Miyata, Y Gao, Y Sha, S Tang, Z Xu, M Whitfield, C Patrat, H Wu, ... The American Journal of Human Genetics 107 (2), 330-341, 2020 | 116 | 2020 |
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility C Liu, C Tu, L Wang, H Wu, BJ Houston, FK Mastrorosa, W Zhang, Y Shen, ... The American Journal of Human Genetics 108 (2), 309-323, 2021 | 81 | 2021 |
Bi-allelic loss-of-function variants in CFAP58 cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice X He, C Liu, X Yang, M Lv, X Ni, Q Li, H Cheng, W Liu, S Tian, H Wu, ... The American Journal of Human Genetics 107 (3), 514-526, 2020 | 81 | 2020 |
Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility C Liu, M Lv, X He, Y Zhu, A Amiri-Yekta, W Li, H Wu, ZE Kherraf, W Liu, ... Journal of Medical Genetics 57 (1), 31-37, 2020 | 78 | 2020 |
Bi-allelic mutations in TTC29 cause male subfertility with asthenoteratospermia in humans and mice C Liu, X He, W Liu, S Yang, L Wang, W Li, H Wu, S Tang, X Ni, J Wang, ... The American Journal of Human Genetics 105 (6), 1168-1181, 2019 | 67 | 2019 |
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice W Li, H Wu, F Li, S Tian, ZE Kherraf, J Zhang, X Ni, M Lv, C Liu, Q Tan, ... Journal of medical genetics 57 (2), 89-95, 2020 | 66 | 2020 |
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice C Tu, J Cong, Q Zhang, X He, R Zheng, X Yang, Y Gao, H Wu, M Lv, Y Gu, ... The American Journal of Human Genetics 108 (8), 1466-1477, 2021 | 55 | 2021 |
A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia X Ni, J Wang, M Lv, C Liu, Y Zhong, S Tian, H Wu, H Cheng, Y Gao, Q Tan, ... Journal of Assisted Reproduction and Genetics 37, 1431-1439, 2020 | 39 | 2020 |
Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella Y Gao, S Tian, Y Sha, X Zha, H Cheng, A Wang, C Liu, M Lv, X Ni, Q Li, ... Reproductive Biomedicine Online 42 (5), 963-972, 2021 | 21 | 2021 |
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice J Cong, X Wang, A Amiri-Yekta, L Wang, ZE Kherraf, C Liu, C Cazin, ... Journal of medical genetics 59 (7), 710-718, 2022 | 18 | 2022 |
A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens H Wu, Y Gao, C Ma, Q Shen, J Wang, M Lv, C Liu, H Cheng, F Zhu, S Tian, ... Journal of Assisted Reproduction and Genetics 37, 1421-1429, 2020 | 18 | 2020 |
Deficiency of X-linked TENT5D causes male infertility by disrupting the mRNA stability during spermatogenesis J Cong, Y Yang, X Wang, Y Shen, HT Qi, C Liu, S Tang, S Wu, S Tian, ... Cell Discovery 8 (1), 23, 2022 | 14 | 2022 |
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility C Liu, Y Shen, S Tang, J Wang, Y Zhou, S Tian, H Wu, J Cong, X He, L Jin, ... Journal of Medical Genetics 60 (2), 137-143, 2023 | 11 | 2023 |
Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA S Tian, C Tu, X He, L Meng, J Wang, S Tang, Y Gao, C Liu, H Wu, Y Zhou, ... Journal of Medical Genetics, 2023 | 7 | 2023 |
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models C Liu, W Si, C Tu, S Tian, X He, S Wang, X Yang, C Yao, C Li, ZE Kherraf, ... The American Journal of Human Genetics 110 (3), 516-530, 2023 | 6 | 2023 |
Novel Mutations in X-Linked, USP26-Induced Asthenoteratozoospermia and Male Infertility C Liu, Y Shen, Q Shen, W Zhang, J Wang, S Tang, H Wu, S Tian, J Cong, ... Cells 10 (7), 1594, 2021 | 6 | 2021 |
A homozygous frameshift mutation in ADAD2 causes male infertility with spermatogenic impairments S Tian, Z Wang, L Liu, Y Zhou, Y Lv, D Tang, J Wang, J Jiang, H Wu, ... Journal of genetics and genomics= Yi chuan xue bao 50 (4), 284-288, 2023 | 4 | 2023 |
NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes A Khan, S Tian, M Tariq, S Khan, M Safeer, N Ullah, N Akbar, I Javed, ... Molecular Genetics and Genomics 297 (6), 1601-1613, 2022 | 3 | 2022 |