Wei X - Search Results

1

Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.

Shi M, Liang Y, Xie B, Wei X, Zheng H, Gui C, Huang R, Fan X, Li C, Wei X, Ma Y, Chen S, Chen Y, Gui B. Shi M, et al. Among authors: wei x. Front Genet. 2022 Nov 23;13:1056127. doi: 10.3389/fgene.2022.1056127. eCollection 2022. Front Genet. 2022. PMID: 36506332 Free PMC article.

2

Heterozygous Recurrent Mutations Inducing Dysfunction of ROR2 Gene in Patients With Short Stature.

Gui B, Yu C, Li X, Zhao S, Zhao H, Yan Z, Cheng X, Lin J, Zheng H, Shao J, Zhao Z, Zhao L, Niu Y, Zhao Z, Wang H, Xie B, Wei X, Gui C, Li C, Chen S, Wang Y, Song Y, Gong C, Zhang TJ, Fan X, Wu Z, Chen Y, Wu N. Gui B, et al. Among authors: wei x. Front Cell Dev Biol. 2021 Apr 14;9:661747. doi: 10.3389/fcell.2021.661747. eCollection 2021. Front Cell Dev Biol. 2021. PMID: 33937263 Free PMC article.

3

Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.

Wei X, Huang G, Gui B, Xie B, Chen S, Fan X, Chen Y. Wei X, et al. Mol Genet Genomic Med. 2022 Apr;10(4):e1901. doi: 10.1002/mgg3.1901. Epub 2022 Mar 2. Mol Genet Genomic Med. 2022. PMID: 35235708 Free PMC article.

4

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.

Wei X, Zhou X, Xie B, Shi M, Gui C, Liu B, Li C, Zhang C, Luo J, Mi C, Gui B. Wei X, et al. Front Genet. 2023 Dec 20;14:1246712. doi: 10.3389/fgene.2023.1246712. eCollection 2023. Front Genet. 2023. PMID: 38174045 Free PMC article.

5

[Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene].

Xie B, Fan X, Wei X, Gui B, Wei X, Ma Y, Feng S, Chen Y. Xie B, et al. Among authors: wei x. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Feb 10;41(2):234-238. doi: 10.3760/cma.j.cn511374-20221205-00841. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38311566 Chinese.

6

Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.

Wei X, Ma Y, Xie B, Gui C, Shi M, Wei X, Huang Y, Fan X, Wei Q, Huang Q, Deng L, Zhang C, Deng X, Gui B, Chen Y. Wei X, et al. Among authors: wei q. BMC Med Genomics. 2024 May 21;17(1):135. doi: 10.1186/s12920-024-01908-5. BMC Med Genomics. 2024. PMID: 38773466 Free PMC article.

7

Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing-based analysis for hemophilia: experience from a hemophilia treatment center in China.

Shi M, Ma Y, Peng X, Zhou X, Cheng Z, Xie B, Wei X, Gui C, Mao A, Lin W, Luo J, Lai Y, Gui B. Shi M, et al. Among authors: wei x. J Thromb Haemost. 2024 Dec;22(12):3431-3447. doi: 10.1016/j.jtha.2024.08.013. Epub 2024 Sep 12. J Thromb Haemost. 2024. PMID: 39260745 Free article.

8

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Yang P, Tan H, Xia Y, Yu Q, Wei X, Guo R, Peng Y, Chen C, Li H, Mei L, Huang Y, Liang D, Wu L. Yang P, et al. Among authors: wei x. Am J Med Genet A. 2016 Jun;170(6):1613-21. doi: 10.1002/ajmg.a.37634. Epub 2016 Mar 30. Am J Med Genet A. 2016. PMID: 27028180 Review.

9

Three novel mutations of STK11 gene in Chinese patients with Peutz-Jeghers syndrome.

Tan H, Mei L, Huang Y, Yang P, Li H, Peng Y, Chen C, Wei X, Pan Q, Liang D, Wu L. Tan H, et al. Among authors: wei x. BMC Med Genet. 2016 Nov 8;17(1):77. doi: 10.1186/s12881-016-0339-6. BMC Med Genet. 2016. PMID: 27821076 Free PMC article.

10

Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases.

Luo X, Zou Y, Tan B, Zhang Y, Guo J, Zeng L, Zhang R, Tan H, Wei X, Hu Y, Zheng Y, Liang D, Wu L. Luo X, et al. Among authors: wei x. J Hum Genet. 2017 Apr;62(4):513-516. doi: 10.1038/jhg.2016.164. Epub 2017 Jan 12. J Hum Genet. 2017. PMID: 28077840

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