Wang H - Search Results

1

Novel dominant and recessive variants in human ROBO1 cause distinct neurodevelopmental defects through different mechanisms.

Huang Y, Ma M, Mao X, Pehlivan D, Kanca O, Un-Candan F, Shu L, Akay G, Mitani T, Lu S, Candan S, Wang H, Xiao B, Lupski JR, Bellen HJ. Huang Y, et al. Among authors: wang h. Hum Mol Genet. 2022 Aug 23;31(16):2751-2765. doi: 10.1093/hmg/ddac070. Hum Mol Genet. 2022. PMID: 35348658 Free PMC article.

2

Neurological complications and risk factors of cardiopulmonary failure of EV-A71-related hand, foot and mouth disease.

Long L, Xu L, Xiao Z, Hu S, Luo R, Wang H, Lu X, Xu Z, Yao X, Zhou L, Long H, Gong J, Song Y, Zhao L, Luo K, Zhang M, Feng L, Yang L, Sheng X, Fan X, Xiao B. Long L, et al. Among authors: wang h. Sci Rep. 2016 Mar 22;6:23444. doi: 10.1038/srep23444. Sci Rep. 2016. PMID: 27001010 Free PMC article.

3

Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly.

Zhang Y, Li H, Pang J, Peng Y, Shu L, Wang H. Zhang Y, et al. Among authors: wang h. Clin Chim Acta. 2019 Apr;491:15-18. doi: 10.1016/j.cca.2019.01.007. Epub 2019 Jan 10. Clin Chim Acta. 2019. PMID: 30639237

4

The first case of a non-infertile female patient with Pitt-Hopkins syndrome.

Li H, Zhang Y, Yu W, Shu L, Mao X, Jia Z, Xi H, Wang H. Li H, et al. Among authors: wang h. Am J Med Genet A. 2019 Nov;179(11):2311-2314. doi: 10.1002/ajmg.a.61325. Epub 2019 Aug 28. Am J Med Genet A. 2019. PMID: 31464085 No abstract available.

5

A De Novo Variant Identified in the PPP2R1A Gene in an Infant Induces Neurodevelopmental Abnormalities.

Zhang Y, Li H, Wang H, Jia Z, Xi H, Mao X. Zhang Y, et al. Among authors: wang h. Neurosci Bull. 2020 Feb;36(2):179-182. doi: 10.1007/s12264-019-00430-4. Epub 2019 Sep 17. Neurosci Bull. 2020. PMID: 31531803 Free PMC article. No abstract available.

6

Exosomes from patients with major depression cause depressive-like behaviors in mice with involvement of miR-139-5p-regulated neurogenesis.

Wei ZX, Xie GJ, Mao X, Zou XP, Liao YJ, Liu QS, Wang H, Cheng Y. Wei ZX, et al. Among authors: wang h. Neuropsychopharmacology. 2020 May;45(6):1050-1058. doi: 10.1038/s41386-020-0622-2. Epub 2020 Jan 27. Neuropsychopharmacology. 2020. PMID: 31986519 Free PMC article.

7

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric K_Na1.1/K_Na1.2 Potassium Channel.

Mao X, Bruneau N, Gao Q, Becq H, Jia Z, Xi H, Shu L, Wang H, Szepetowski P, Aniksztejn L. Mao X, et al. Among authors: wang h. Front Cell Neurosci. 2020 Jan 24;14:1. doi: 10.3389/fncel.2020.00001. eCollection 2020. Front Cell Neurosci. 2020. PMID: 32038177 Free PMC article.

8

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.

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

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.

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