Yang Q - Search Results

1

Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.

Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS. Zeng S, et al. Among authors: yang q. J Med Genet. 2019 Apr;56(4):265-270. doi: 10.1136/jmedgenet-2018-105484. Epub 2018 Sep 7. J Med Genet. 2019. PMID: 30194086

2

Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis.

Miao H, Zhou J, Yang Q, Liang F, Wang D, Ma N, Gao B, Du J, Lin G, Wang K, Zhang Q. Miao H, et al. Among authors: yang q. Hereditas. 2018 Sep 28;155:32. doi: 10.1186/s41065-018-0069-1. eCollection 2018. Hereditas. 2018. PMID: 30279644 Free PMC article.

3

Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.

Sun SC, Ma D, Li MY, Zhang RX, Huang C, Huang HJ, Xie YZ, Wang ZJ, Liu J, Cai DC, Liu CX, Yang Q, Bao FX, Gong XL, Li JR, Hui Z, Wei XF, Zhong JM, Zhou WJ, Shang X, Zhang C, Liu XG, Tang BS, Xiong F, Xu XM. Sun SC, et al. Among authors: yang q. Brain. 2019 Aug 1;142(8):2215-2229. doi: 10.1093/brain/awz151. Brain. 2019. PMID: 31199454

4

Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions.

Zhang S, Liang F, Lei C, Wu J, Fu J, Yang Q, Luo X, Yu G, Wang D, Zhang Y, Lu D, Sun X, Liang Y, Xu C. Zhang S, et al. Among authors: yang q. J Med Genet. 2019 Nov;56(11):741-749. doi: 10.1136/jmedgenet-2018-105976. Epub 2019 Aug 22. J Med Genet. 2019. PMID: 31439719 Free PMC article.

5

A novel variant of IHH in a Chinese family with brachydactyly type 1.

Yang Q, Wang J, Tian X, Shen F, Lan J, Zhang Q, Fan X, Yi S, Li M, Shen Y. Yang Q, et al. BMC Med Genet. 2020 Mar 24;21(1):60. doi: 10.1186/s12881-020-01000-6. BMC Med Genet. 2020. PMID: 32209048 Free PMC article.

6

Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemia.

Li M, Yang Q, Yi S, Qin Z, Luo J, Fan X. Li M, et al. Among authors: yang q. Mol Genet Genomic Med. 2020 Aug;8(8):e1303. doi: 10.1002/mgg3.1303. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519510 Free PMC article.

7

[Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome].

Liu C, Tian Z, Yang Q, Ma Q, Xu X, Xiong F. Liu C, et al. Among authors: yang q. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Apr;33(2):150-4. doi: 10.3760/cma.j.issn.1003-9406.2016.02.005. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27060303 Chinese.

8

A splicing mutation in VPS4B causes dentin dysplasia I.

Yang Q, Chen D, Xiong F, Chen D, Liu C, Liu Y, Yu Q, Xiong J, Liu J, Li K, Zhao L, Ye Y, Zhou H, Hu L, Tian Z, Shang X, Zhang L, Wei X, Zhou W, Li D, Zhang W, Xu X. Yang Q, et al. J Med Genet. 2016 Sep;53(9):624-33. doi: 10.1136/jmedgenet-2015-103619. Epub 2016 May 31. J Med Genet. 2016. PMID: 27247351

9

[Genetic analysis for 5 congenital hypothyroidism patients due to dyshormonogenesis].

Fu CY, Zhang SJ, Luo SY, Wang J, Yang Q, Xie BB, Chen SK. Fu CY, et al. Among authors: yang q. Zhonghua Er Ke Za Zhi. 2016 Jun 2;54(6):433-6. doi: 10.3760/cma.j.issn.0578-1310.2016.06.009. Zhonghua Er Ke Za Zhi. 2016. PMID: 27256230 Chinese.

10

Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.

Yang Q, Yi S, Li M, Xie B, Luo J, Wang J, Rong X, Zhang Q, Qin Z, Hang L, Feng S, Fan X. Yang Q, et al. BMC Med Genet. 2019 Jun 13;20(1):106. doi: 10.1186/s12881-019-0842-7. BMC Med Genet. 2019. PMID: 31196117 Free PMC article.

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