Wang J - Search Results

1

Functional Study of TMEM163 Gene Variants Associated with Hypomyelination Leukodystrophy.

Yan H, Yang S, Hou Y, Ali S, Escobar A, Gao K, Duan R, Kubisiak T, Wang J, Zhang Y, Xiao J, Jiang Y, Zhang T, Wu Y, Burmeister M, Wang Q, Cuajungco MP, Wang J. Yan H, et al. Among authors: wang j, wang q. Cells. 2022 Apr 9;11(8):1285. doi: 10.3390/cells11081285. Cells. 2022. PMID: 35455965 Free PMC article.

2

Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study.

Sun Y, Peng J, Liang D, Ye X, Xu N, Chen L, Yan D, Zhang H, Xiao B, Qiu W, Shen Y, Pang N, Liu Y, Liang C, Qin Z, Luo J, Chen F, Wang J, Zhang Z, Wei H, Du J, Yan H, Duan R, Wang J, Zhang Y, Liao S, Sun K, Wu L, Yu Y. Sun Y, et al. Among authors: wang j. Hum Mutat. 2022 May;43(5):568-581. doi: 10.1002/humu.24347. Epub 2022 Mar 1. Hum Mutat. 2022. PMID: 35143101

3

Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease.

Duan R, Ji H, Yan H, Wang J, Zhang Y, Zhang Q, Li D, Cao B, Gu Q, Wu Y, Jiang Y, Li M, Wang J. Duan R, et al. Among authors: wang j. Orphanet J Rare Dis. 2022 Mar 28;17(1):137. doi: 10.1186/s13023-022-02267-z. Orphanet J Rare Dis. 2022. PMID: 35346287 Free PMC article.

4

Study on the Economic Burden of Neurodevelopmental Diseases on Patients With Genetic Diagnosis.

Xie D, Duan R, Li C, Xie Z, Wang A, Xiong L, Wei J, Xi H, Fang J, Yan H, Wang J, Zhang Y, Mao X, Wang J, Wang H. Xie D, et al. Among authors: wang h, wang j, wang a. Front Public Health. 2022 May 9;10:887796. doi: 10.3389/fpubh.2022.887796. eCollection 2022. Front Public Health. 2022. PMID: 35615033 Free PMC article.

5

[Clinical and genetic analysis of three children with 22q13 deletion syndrome].

Wang J, Duan R, Yan H, Zhang Y, Xiao J, Wang J. Wang J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jul 10;39(7):680-684. doi: 10.3760/cma.j.cn511374-20210426-00363. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022. PMID: 35810420 Chinese.

6

The recurrent mutation in RNF220 also causes hypomyelination in China and is a CpG hot spot.

Yan H, Kubisiak T, Gao K, Xiao J, Wang J, Zhang Y, Wu Y, Jiang Y, Burmeister M, Wang J. Yan H, et al. Among authors: wang j. Brain. 2022 Dec 19;145(12):e122-e124. doi: 10.1093/brain/awac314. Brain. 2022. PMID: 36083980 No abstract available.

7

Case Report: Novel compound heterozygous variants in CHRNA1 gene leading to lethal multiple pterygium syndrome: A case report.

Zhuang J, Wang J, Luo Q, Zeng S, Chen Y, Jiang Y, Chen X, Wang Y, Xie Y, Wang G, Chen C. Zhuang J, et al. Among authors: wang g, wang j, wang y. Front Genet. 2022 Aug 26;13:964098. doi: 10.3389/fgene.2022.964098. eCollection 2022. Front Genet. 2022. PMID: 36092864 Free PMC article.

8

Application of third-generation sequencing technology for identifying rare α- and β-globin gene variants in a Southeast Chinese region.

Zhuang J, Wang J, Huang N, Zheng Y, Xu L. Zhuang J, et al. Among authors: wang j. BMC Med Genomics. 2024 Oct 1;17(1):241. doi: 10.1186/s12920-024-02014-2. BMC Med Genomics. 2024. PMID: 39354459 Free PMC article.

9

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.

Zhuang J, Liu S, Wang J, Chen Y, Zhang H, Jiang Y, Wang G, Chen C. Zhuang J, et al. Among authors: wang g, wang j. Mol Genet Genomic Med. 2023 Oct;11(10):e2242. doi: 10.1002/mgg3.2242. Epub 2023 Jul 23. Mol Genet Genomic Med. 2023. PMID: 37485807 Free PMC article.

10

B₉₂: a complete coating icosahedral B₁₂ core-shell structure.

Chen YS, Guo JJ, Liu PB, Zhao HY, Wang J, Liu Y. Chen YS, et al. Among authors: wang j. Phys Chem Chem Phys. 2024 Nov 22. doi: 10.1039/d4cp03471f. Online ahead of print. Phys Chem Chem Phys. 2024. PMID: 39575655

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