Yan H - Search Results

1

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Yan H, Helman G, Murthy SE, Ji H, Crawford J, Kubisiak T, Bent SJ, Xiao J, Taft RJ, Coombs A, Wu Y, Pop A, Li D, de Vries LS, Jiang Y, Salomons GS, van der Knaap MS, Patapoutian A, Simons C, Burmeister M, Wang J, Wolf NI. Yan H, et al. Am J Hum Genet. 2019 Nov 7;105(5):996-1004. doi: 10.1016/j.ajhg.2019.09.011. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587869 Free PMC article.

2

Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.

Cao B, Yan H, Guo M, Xie H, Wu Y, Gu Q, Xiao J, Shang J, Yang Y, Xiong H, Niu Z, Wu X, Jiang Y, Wang J. Cao B, et al. Among authors: yan h. PLoS One. 2016 Jun 20;11(6):e0157258. doi: 10.1371/journal.pone.0157258. eCollection 2016. PLoS One. 2016. PMID: 27322623 Free PMC article.

3

The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot.

Yan H, Kubisiak T, Ji H, Xiao J, Wang J, Burmeister M. Yan H, et al. Brain. 2018 May 1;141(5):e36. doi: 10.1093/brain/awy029. Brain. 2018. PMID: 29444210 No abstract available.

4

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy.

Chen L, Yan H, Cao B, Wu Y, Gu Q, Xiao J, Yang Y, Yang H, Shi Z, Yang Z, Pan H, Chang X, Chen J, Sun Y, Zhang Y, Wu X, Jiang Y, Wang J. Chen L, et al. Among authors: yan h. Int J Genomics. 2018 Jul 3;2018:2361068. doi: 10.1155/2018/2361068. eCollection 2018. Int J Genomics. 2018. PMID: 30057904 Free PMC article.

5

De Novo Mutations of CCNK Cause a Syndromic Neurodevelopmental Disorder with Distinctive Facial Dysmorphism.

Fan Y, Yin W, Hu B, Kline AD, Zhang VW, Liang D, Sun Y, Wang L, Tang S, Powis Z, Li L, Yan H, Shi Z, Yang X, Chen Y, Wang J, Jiang Y, Tan H, Gu X, Wu L, Yu Y. Fan Y, et al. Among authors: yan h. Am J Hum Genet. 2018 Sep 6;103(3):448-455. doi: 10.1016/j.ajhg.2018.07.019. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122539 Free PMC article.

6

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: yan h. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.

7

Reanalysis of whole exome sequencing data in patients with epilepsy and intellectual disability/mental retardation.

Li J, Gao K, Yan H, Xiangwei W, Liu N, Wang T, Xu H, Lin Z, Xie H, Wang J, Wu Y, Jiang Y. Li J, et al. Among authors: yan h. Gene. 2019 Jun 5;700:168-175. doi: 10.1016/j.gene.2019.03.037. Epub 2019 Mar 21. Gene. 2019. PMID: 30904718

8

A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.

Shi K, Shi Z, Yan H, Wang X, Yang Y, Xiong H, Gu Q, Wu Y, Jiang Y, Wang J. Shi K, et al. Among authors: yan h. BMC Med Genet. 2019 May 7;20(1):76. doi: 10.1186/s12881-019-0811-1. BMC Med Genet. 2019. PMID: 31064337 Free PMC article.

9

Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene.

Yan H, Shi Z, Wu Y, Xiao J, Gu Q, Yang Y, Li M, Gao K, Chen Y, Yang X, Ji H, Cao B, Duan R, Jiang Y, Wang J. Yan H, et al. BMC Med Genet. 2019 May 14;20(1):80. doi: 10.1186/s12881-019-0794-y. BMC Med Genet. 2019. PMID: 31088393 Free PMC article.

10

Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.

Shi Z, Yan HF, Cao BB, Guo MM, Xie H, Gao K, Xiao JX, Yang YL, Xiong H, Gu Q, Li M, Wu Y, Jiang YW, Wang JM. Shi Z, et al. Among authors: yan hf. World J Pediatr. 2019 Oct;15(5):454-464. doi: 10.1007/s12519-019-00284-w. Epub 2019 Aug 1. World J Pediatr. 2019. PMID: 31372844 Free PMC article.

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