Ji H - Search Results

1

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. Among authors: ji t, ji h. 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.

2

Identification and functional study of novel PLP1 mutations in Chinese patients with Pelizaeus-Merzbacher disease.

Xie H, Feng H, Ji J, Wu Y, Kou L, Li D, Ji H, Wu X, Niu Z, Wang J, Jiang Y. Xie H, et al. Among authors: ji h, ji j. Brain Dev. 2015 Sep;37(8):797-802. doi: 10.1016/j.braindev.2014.11.007. Epub 2014 Dec 6. Brain Dev. 2015. PMID: 25491635

3

Identiﬁcation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.

Ji T, Li D, Wu Y, Xiao J, Ji H, Wu X, Wang J, Jiang Y. Ji T, et al. Among authors: ji h. Minerva Pediatr (Torino). 2023 Feb;75(1):32-38. doi: 10.23736/S2724-5276.16.04451-0. Epub 2016 Apr 8. Minerva Pediatr (Torino). 2023. PMID: 27057822

4

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.

Zhang L, Wang J, Zhang C, Li D, Carvalho CMB, Ji H, Xiao J, Wu Y, Zhou W, Wang H, Jin L, Luo Y, Wu X, Lupski JR, Zhang F, Jiang Y. Zhang L, et al. Among authors: ji h. Hum Mol Genet. 2017 May 15;26(10):1927-1941. doi: 10.1093/hmg/ddx102. Hum Mol Genet. 2017. PMID: 28334874 Free PMC article.

5

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. Among authors: ji h. Brain. 2018 May 1;141(5):e36. doi: 10.1093/brain/awy029. Brain. 2018. PMID: 29444210 No abstract available.

6

Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.

Ji H, Li D, Wu Y, Zhang Q, Gu Q, Xie H, Ji T, Wang H, Zhao L, Zhao H, Yang Y, Feng H, Xiong H, Ji J, Yang Z, Kou L, Li M, Bao X, Chang X, Zhang Y, Li L, Li H, Niu Z, Wu X, Xiao J, Jiang Y, Wang J. Ji H, et al. Among authors: ji t, ji j. PLoS One. 2018 Feb 16;13(2):e0188869. doi: 10.1371/journal.pone.0188869. eCollection 2018. PLoS One. 2018. PMID: 29451896 Free PMC article.

7

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. Among authors: ji h. 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.

8

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. Among authors: ji h. 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.

9

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: ji 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

10

Novel Insight into the Potential Pathogenicity of Mitochondrial Dysfunction Resulting from PLP1 Duplication Mutations in Patients with Pelizaeus-Merzbacher Disease.

Duan R, Li L, Yan H, He M, Gao K, Xing S, Ji H, Wang J, Cao B, Li D, Xie H, Zhao S, Wu Y, Jiang Y, Xiao J, Gu Q, Li M, Zheng X, Chen L, Wang J. Duan R, et al. Among authors: ji h. Neuroscience. 2021 Nov 10;476:60-71. doi: 10.1016/j.neuroscience.2021.08.029. Epub 2021 Sep 9. Neuroscience. 2021. PMID: 34506833 Free article.

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