He WB - Search Results

1

Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A.

Yuan S, Hu L, Zhong J, Hu X, Zhao X, Wan Z, Zeng S, He WB, Gu F, Wang SP, Lu G, Lin G, Du J. Yuan S, et al. Among authors: he wb. Haemophilia. 2024 Dec 4. doi: 10.1111/hae.15140. Online ahead of print. Haemophilia. 2024. PMID: 39632590

2

[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.

3

[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.

4

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.

5

Novel mutations of PKD genes in Chinese patients suffering from autosomal dominant polycystic kidney disease and seeking assisted reproduction.

He WB, Xiao WJ, Tan YQ, Zhao XM, Li W, Zhang QJ, Zhong CG, Li XR, Hu L, Lu GX, Lin G, Du J. He WB, et al. BMC Med Genet. 2018 Oct 17;19(1):186. doi: 10.1186/s12881-018-0693-7. BMC Med Genet. 2018. PMID: 30333007 Free PMC article.

6

X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations.

He WB, Du J, Xie PY, Zhou S, Zhang YX, Lu GX, Lin G, Li W, Tan YQ. He WB, et al. Prenat Diagn. 2019 Jul;39(8):603-608. doi: 10.1002/pd.5473. Epub 2019 Jun 3. Prenat Diagn. 2019. PMID: 31069818

7

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella.

Tu C, Nie H, Meng L, Yuan S, He W, Luo A, Li H, Li W, Du J, Lu G, Lin G, Tan YQ. Tu C, et al. Sci Rep. 2019 Nov 1;9(1):15864. doi: 10.1038/s41598-019-52436-7. Sci Rep. 2019. PMID: 31676830 Free PMC article. Clinical Trial.

8

Novel loss-of-function mutation in MCM8 causes premature ovarian insufficiency.

Zhang YX, He WB, Xiao WJ, Meng LL, Tan C, Du J, Lu GX, Lin G, Tan YQ. Zhang YX, et al. Among authors: he wb. Mol Genet Genomic Med. 2020 Apr;8(4):e1165. doi: 10.1002/mgg3.1165. Epub 2020 Feb 11. Mol Genet Genomic Med. 2020. PMID: 32048466 Free PMC article.

9

Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.

Hu X, He WB, Zhang SP, Luo KL, Gong F, Dai J, Zhang Y, Wan ZX, Li W, Yuan SM, Tan YQ, Lu GX, Lin G, Du J. Hu X, et al. Among authors: he wb. Mol Genet Genomic Med. 2021 May;9(5):e1662. doi: 10.1002/mgg3.1662. Epub 2021 May 4. Mol Genet Genomic Med. 2021. PMID: 33942572 Free PMC article.

10

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

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