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NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, Akbar N, Javed I, Asif M, Ahmad I, Ullah S, Satti HS, Khan R, Naeem M, Ali M, Rendu J, Fauré J, Dieterich K, Latypova X, Baig SM, Malik NA, Zhang F, Khan TN, Liu C. Khan A, et al. Among authors: liu c. Mol Genet Genomics. 2022 Nov;297(6):1601-1613. doi: 10.1007/s00438-022-01945-8. Epub 2022 Aug 24. Mol Genet Genomics. 2022. PMID: 36002593
Biallelic mutations in CFAP65 cause male infertility with multiple morphological abnormalities of the sperm flagella in humans and mice.
Li W, Wu H, Li F, Tian S, Kherraf ZE, Zhang J, Ni X, Lv M, Liu C, Tan Q, Shen Y, Amiri-Yekta A, Cazin C, Zhang J, Liu W, Zheng Y, Cheng H, Wu Y, Wang J, Gao Y, Chen Y, Zha X, Jin L, Liu M, He X, Ray PF, Cao Y, Zhang F. Li W, et al. Among authors: liu m, liu c, liu w. J Med Genet. 2020 Feb;57(2):89-95. doi: 10.1136/jmedgenet-2019-106344. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501240
Bi-allelic Mutations in TTC29 Cause Male Subfertility with Asthenoteratospermia in Humans and Mice.
Liu C, He X, Liu W, Yang S, Wang L, Li W, Wu H, Tang S, Ni X, Wang J, Gao Y, Tian S, Zhang L, Cong J, Zhang Z, Tan Q, Zhang J, Li H, Zhong Y, Lv M, Li J, Jin L, Cao Y, Zhang F. Liu C, et al. Among authors: liu w. Am J Hum Genet. 2019 Dec 5;105(6):1168-1181. doi: 10.1016/j.ajhg.2019.10.010. Epub 2019 Nov 14. Am J Hum Genet. 2019. PMID: 31735294 Free PMC article.
A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens.
Wu H, Gao Y, Ma C, Shen Q, Wang J, Lv M, Liu C, Cheng H, Zhu F, Tian S, Elshewy N, Ni X, Tan Q, Xu X, Zhou P, Wei Z, Zhang F, He X, Cao Y. Wu H, et al. Among authors: liu c. J Assist Reprod Genet. 2020 Jun;37(6):1421-1429. doi: 10.1007/s10815-020-01779-6. Epub 2020 Apr 20. J Assist Reprod Genet. 2020. PMID: 32314195 Free PMC article.
A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.
Ni X, Wang J, Lv M, Liu C, Zhong Y, Tian S, Wu H, Cheng H, Gao Y, Tan Q, Chen B, Li Q, Song B, Wei Z, Zhou P, He X, Zhang F, Cao Y. Ni X, et al. Among authors: liu c. J Assist Reprod Genet. 2020 Jun;37(6):1431-1439. doi: 10.1007/s10815-020-01770-1. Epub 2020 Apr 23. J Assist Reprod Genet. 2020. PMID: 32323121 Free PMC article.
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
Liu C, Miyata H, Gao Y, Sha Y, Tang S, Xu Z, Whitfield M, Patrat C, Wu H, Dulioust E, Tian S, Shimada K, Cong J, Noda T, Li H, Morohoshi A, Cazin C, Kherraf ZE, Arnoult C, Jin L, He X, Ray PF, Cao Y, Touré A, Zhang F, Ikawa M. Liu C, et al. Am J Hum Genet. 2020 Aug 6;107(2):330-341. doi: 10.1016/j.ajhg.2020.06.004. Epub 2020 Jul 2. Am J Hum Genet. 2020. PMID: 32619401 Free PMC article.
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice.
He X, Liu C, Yang X, Lv M, Ni X, Li Q, Cheng H, Liu W, Tian S, Wu H, Gao Y, Yang C, Tan Q, Cong J, Tang D, Zhang J, Song B, Zhong Y, Li H, Zhi W, Mao X, Fu F, Ge L, Shen Q, Zhang M, Saiyin H, Jin L, Xu Y, Zhou P, Wei Z, Zhang F, Cao Y. He X, et al. Among authors: liu c, liu w. Am J Hum Genet. 2020 Sep 3;107(3):514-526. doi: 10.1016/j.ajhg.2020.07.010. Epub 2020 Aug 12. Am J Hum Genet. 2020. PMID: 32791035 Free PMC article.
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