Zhang VW - Search Results

1

Identification of a novel KCNT2 variant in a family with developmental and epileptic encephalopathies: a case report and literature review.

Cui F, Wulan T, Zhang Q, Zhang VW, Jiang Y. Cui F, et al. Among authors: zhang vw. Front Genet. 2024 Mar 6;15:1371282. doi: 10.3389/fgene.2024.1371282. eCollection 2024. Front Genet. 2024. PMID: 38510274 Free PMC article.

2

Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge.

Huang Q, Jiang C, Sun J, Xue J, Zhang VW. Huang Q, et al. Among authors: zhang vw. Front Pediatr. 2022 Nov 18;10:990230. doi: 10.3389/fped.2022.990230. eCollection 2022. Front Pediatr. 2022. PMID: 36467473 Free PMC article.

3

Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.

Tang S, You J, Liu L, Ouyang H, Jiang N, Duan J, Li C, Luo Y, Zhang W, Zhan M, Liu C, Lyu GZ, Zhang VW, Zhao H. Tang S, et al. Among authors: zhang vw. Mol Genet Genomic Med. 2023 Aug;11(8):e2188. doi: 10.1002/mgg3.2188. Epub 2023 Jul 24. Mol Genet Genomic Med. 2023. PMID: 37488749 Free PMC article. Review.

4

Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.

Jiang Y, Xiao YX, Xiong JJ, Zhang VW, Dong C, Xu L, Liu F. Jiang Y, et al. Among authors: zhang vw. Mol Cytogenet. 2024 Jan 3;17(1):1. doi: 10.1186/s13039-023-00670-0. Mol Cytogenet. 2024. PMID: 38173004 Free PMC article.

5

The clinical, myopathological, and genetic analysis of 155 Chinese mitochondrial ophthalmoplegia patients with mitochondrial DNA single large deletions.

Zhao Y, Hou Y, Zhao X, Liufu T, Yu M, Zhang W, Xie Z, Zhang VW, Yuan Y, Wang Z. Zhao Y, et al. Among authors: zhang vw. Mol Genet Genomic Med. 2024 Jan;12(1):e2328. doi: 10.1002/mgg3.2328. Epub 2023 Nov 28. Mol Genet Genomic Med. 2024. PMID: 38018320 Free PMC article.

6

Accurate Identification of Breakpoints in a Cryptic Reciprocal Translocation by Whole-Genome Sequencing.

Chen J, Lyu GZ, Jiang F, Zhang VW, Li DZ. Chen J, et al. Among authors: zhang vw. Cytogenet Genome Res. 2022;162(7):386-390. doi: 10.1159/000528604. Epub 2023 Mar 9. Cytogenet Genome Res. 2022. PMID: 36893740

7

Customizing carrier screening in the Chinese population: Insights from a 334-gene panel.

Liu S, Huang S, Zhang VW, Cao L, Liu H, Wei X, Luo Y, Li Y, Zhou L, Li F, Zhu Q, Liu H. Liu S, et al. Among authors: zhang vw. Prenat Diagn. 2024 Oct;44(11):1335-1343. doi: 10.1002/pd.6635. Epub 2024 Jul 18. Prenat Diagn. 2024. PMID: 39030774

8

Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis.

Wu TH, Peng J, Yang L, Chen YH, Lu XL, Huang JT, You JY, Ou-Yang WX, Sun YY, Xue YN, Mao X, Yan HM, Ren RN, Xie J, Chen ZH, Zhang VW, Lyu GZ, He F. Wu TH, et al. Among authors: zhang vw. Sci Rep. 2023 Mar 14;13(1):4193. doi: 10.1038/s41598-023-31134-5. Sci Rep. 2023. PMID: 36918699 Free PMC article.

9

A Novel m.1636A > G Variant in Mitochondrial TV Gene Might Cause New Phenotype of Mitochondrial Disease in a 2-Year Old Chinese Boy.

Yang H, Zhang VW, Ai L, Wu L. Yang H, et al. Among authors: zhang vw. Mol Neurobiol. 2024 Sep 7. doi: 10.1007/s12035-024-04472-2. Online ahead of print. Mol Neurobiol. 2024. PMID: 39243325

10

Parent-Reported Ease of Listening in Preschool-Aged Children With Bilateral and Unilateral Hearing Loss.

Easwar V, Hou S, Zhang VW. Easwar V, et al. Among authors: zhang vw. Ear Hear. 2024 Nov-Dec 01;45(6):1600-1612. doi: 10.1097/AUD.0000000000001553. Epub 2024 Aug 9. Ear Hear. 2024. PMID: 39118218

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