He WB - Search Results

1

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders.

He WB, Xiao WJ, Dai CL, Wang YR, Li XR, Gong F, Meng LL, Tan C, Zeng SC, Lu GX, Lin G, Tan YQ, Hu H, Du J. He WB, et al. J Med Genet. 2022 Oct;59(10):1010-1016. doi: 10.1136/jmedgenet-2021-108013. Epub 2022 Feb 4. J Med Genet. 2022. PMID: 35121647

2

[Identification of novel KIT gene mutations in two Chinese families with piebaldism].

He WB, Hu X, Tang WL, Li LY, Lu GX, Li W. He WB, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):385-8. doi: 10.3760/cma.j.issn.1003-9406.2013.04.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013. PMID: 23926000 Chinese.

3

[Study of two Chinese families affected with resistant ovarian syndrome resulted from novel mutations of FSHR gene].

Li W, He W, Zhou L, Hu X, Li S, Gong F, Tan Y. Li W, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Apr 10;34(2):196-199. doi: 10.3760/cma.j.issn.1003-9406.2017.02.009. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28397217 Chinese.

4

A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China.

Dai CL, He WB, Du J, Tan YQ, Lu GX, Li W. Dai CL, et al. Among authors: he wb. Clin Case Rep. 2017 May 4;5(6):961-967. doi: 10.1002/ccr3.986. eCollection 2017 Jun. Clin Case Rep. 2017. PMID: 28588848 Free PMC article.

5

[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome].

Yang X, Li W, Du J, Yuan S, He W, Zhang Q, Zhong C, Lu G, Tan Y. Yang X, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Jun 10;34(3):342-346. doi: 10.3760/cma.j.issn.1003-9406.2017.03.006. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28604951 Chinese.

6

[Genetic analysis of three families affected with split-hand/split-foot malformation].

He W, Lin G, Liang P, Cheng D, Hu X, Zhou L, Xiong B, Tan Y, Lu G, Li W. He W, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):476-480. doi: 10.3760/cma.j.issn.1003-9406.2017.04.002. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017. PMID: 28777841 Chinese.

7

DMC1 mutation that causes human non-obstructive azoospermia and premature ovarian insufficiency identified by whole-exome sequencing.

He WB, Tu CF, Liu Q, Meng LL, Yuan SM, Luo AX, He FS, Shen J, Li W, Du J, Zhong CG, Lu GX, Lin G, Fan LQ, Tan YQ. He WB, et al. Among authors: he fs. J Med Genet. 2018 Mar;55(3):198-204. doi: 10.1136/jmedgenet-2017-104992. Epub 2018 Jan 13. J Med Genet. 2018. PMID: 29331980

8

Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

He WB, Tan YQ, Hu X, Li W, Xiong B, Luo KL, Gong F, Lu GX, Lin G, Du J. He WB, et al. BMC Med Genet. 2018 Jan 24;19(1):15. doi: 10.1186/s12881-018-0525-9. BMC Med Genet. 2018. PMID: 29368589 Free PMC article.

9

Novel FOXL2 mutations cause blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian insufficiency.

Yang XW, He WB, Gong F, Li W, Li XR, Zhong CG, Lu GX, Lin G, Du J, Tan YQ. Yang XW, et al. Among authors: he wb. Mol Genet Genomic Med. 2018 Mar;6(2):261-267. doi: 10.1002/mgg3.366. Epub 2018 Jan 29. Mol Genet Genomic Med. 2018. PMID: 29378385 Free PMC article.

10

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.

Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ. Li H, et al. Mol Cytogenet. 2018 Feb 5;11:15. doi: 10.1186/s13039-018-0365-5. eCollection 2018. Mol Cytogenet. 2018. PMID: 29441129 Free PMC article.

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