Yan H - Search Results

1

FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder.

Fell CW, Hagelkruys A, Cicvaric A, Horrer M, Liu L, Li JSS, Stadlmann J, Polyansky AA, Mereiter S, Tejada MA, Kokotović T, Achuta VS, Scaramuzza A, Twyman KA, Morrow MM, Juusola J, Yan H, Wang J, Burmeister M, Choudhury B, Andersen TL, Wirnsberger G, Holmskov U, Perrimon N, Žagrović B, Monje FJ, Moeller JB, Penninger JM, Nagy V. Fell CW, et al. Among authors: yan h. EMBO Mol Med. 2022 Sep 7;14(9):e15829. doi: 10.15252/emmm.202215829. Epub 2022 Aug 2. EMBO Mol Med. 2022. PMID: 35916241 Free PMC article.

2

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.

3

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.

4

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

Yan H, Ji H, Kubisiak T, Wu Y, Xiao J, Gu Q, Yang Y, Xie H, Ji T, Gao K, Li D, Xiong H, Shi Z, Li M, Zhang Y, Duan R, Bao X, Jiang Y, Burmeister M, Wang J. Yan H, et al. J Hum Genet. 2021 Aug;66(8):761-768. doi: 10.1038/s10038-020-00896-5. Epub 2021 Feb 18. J Hum Genet. 2021. PMID: 33597727 Free PMC article.

5

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. Cells. 2022 Apr 9;11(8):1285. doi: 10.3390/cells11081285. Cells. 2022. PMID: 35455965 Free PMC article.

6

[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. Among authors: yan h. 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.

7

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. Brain. 2022 Dec 19;145(12):e122-e124. doi: 10.1093/brain/awac314. Brain. 2022. PMID: 36083980 No abstract available.

8

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.

9

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.

10

Epilepsy in children with leukodystrophies.

Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y. Zhang J, et al. Among authors: yan h. J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9. J Neurol. 2020. PMID: 32388833

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

13,475 results

Search Page