Wang H - Search Results

1

Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.

Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Among authors: wang h, wang j. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435

2

Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.

Yan HM, Liu ZM, Cao B, Zhang VW, He YD, Jia ZJ, Xi H, Liu J, Fang F, Wang H. Yan HM, et al. Among authors: wang h. Front Genet. 2021 Jul 1;12:611226. doi: 10.3389/fgene.2021.611226. eCollection 2021. Front Genet. 2021. PMID: 34276756 Free PMC article.

3

Novel Heterozygous Missense Variant in GRIA4 Gene Associated With Neurodevelopmental Disorder With or Without Seizures and Gait Abnormalities.

Wang H, Liu J, Li F, Teng Z, Liu M, Gu W. Wang H, et al. Front Genet. 2022 Apr 20;13:859140. doi: 10.3389/fgene.2022.859140. eCollection 2022. Front Genet. 2022. PMID: 35518358 Free PMC article.

4

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy.

Chung HL, Mao X, Wang H, Park YJ, Marcogliese PC, Rosenfeld JA, Burrage LC, Liu P, Murdock DR, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Chao HT, Long H, Feng L, Bacino CA, Bellen HJ, Xiao B. Chung HL, et al. Among authors: wang h. Am J Hum Genet. 2020 May 7;106(5):717-725. doi: 10.1016/j.ajhg.2020.04.001. Epub 2020 Apr 23. Am J Hum Genet. 2020. PMID: 32330417 Free PMC article.

5

MN1 gene loss-of-function mutation causes cleft palate in a pedigree.

Shu L, He D, Wu D, Peng Y, Xi H, Mao X, Wang H. Shu L, et al. Among authors: wang h. Brain. 2021 Mar 3;144(2):e18. doi: 10.1093/brain/awaa431. Brain. 2021. PMID: 33351070 Free PMC article. No abstract available.

6

[Analysis on the Genotype of 5018 Cases of Thalassemia in Hunan Area].

Liu Q, Jia ZJ, Xi H, Liu J, Peng Y, Wang H. Liu Q, et al. Among authors: wang h. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019 Dec;27(6):1938-1942. doi: 10.19746/j.cnki.issn.1009-2137.2019.06.037. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2019. PMID: 31839063 Chinese.

7

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

Hu H, Wang H, Jia Z, Xie Q. Hu H, et al. Among authors: wang h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Aug;31(4):424-7. doi: 10.3760/cma.j.issn.1003-9406.2014.04.003. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014. PMID: 25119903 Chinese.

8

Parental mosaicism in de novo neurodevelopmental diseases.

Shu L, Zhang Q, Tian Q, Yang S, Peng X, Mao X, Yang L, Du J, Wang H. Shu L, et al. Among authors: wang h. Am J Med Genet A. 2021 Jul;185(7):2119-2125. doi: 10.1002/ajmg.a.62174. Epub 2021 Apr 14. Am J Med Genet A. 2021. PMID: 33851778

9

Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay.

Huang Y, Mao X, van Jaarsveld RH, Shu L, Terhal PA, Jia Z, Xi H, Peng Y, Yan H, Yuan S, Li Q, Wang H, Bellen HJ. Huang Y, et al. Among authors: wang h. Hum Mol Genet. 2020 Jun 3;29(9):1537-1546. doi: 10.1093/hmg/ddaa078. Hum Mol Genet. 2020. PMID: 32338762 Free PMC article.

10

The fly homolog of SUPT16H, a gene associated with neurodevelopmental disorders, is required in a cell-autonomous fashion for cell survival.

Ma M, Zhang X, Zheng Y, Lu S, Pan X, Mao X, Pan H, Chung HL, Wang H, Guo H, Bellen HJ. Ma M, et al. Among authors: wang h. Hum Mol Genet. 2023 Mar 6;32(6):984-997. doi: 10.1093/hmg/ddac259. Hum Mol Genet. 2023. PMID: 36255738 Free PMC article.

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