Wang J - Search Results

1

A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.

Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. Drivas TG, et al. Among authors: wang j. Eur J Hum Genet. 2020 Oct;28(10):1422-1431. doi: 10.1038/s41431-020-0654-4. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483341 Free PMC article.

2

Diagnosis and fine mapping of a deletion in distal 11q in two Chinese patients with developmental delay.

Ji T, Wu Y, Wang H, Wang J, Jiang Y. Ji T, et al. Among authors: wang h, wang j. J Hum Genet. 2010 Aug;55(8):486-9. doi: 10.1038/jhg.2010.51. Epub 2010 Jun 3. J Hum Genet. 2010. PMID: 20520618

3

Functional analysis of recently identified mutations in eukaryotic translation initiation factor 2Bɛ (eIF2Bɛ) identified in Chinese patients with vanishing white matter disease.

Leng X, Wu Y, Wang X, Pan Y, Wang J, Li J, Du L, Dai L, Wu X, Proud CG, Jiang Y. Leng X, et al. Among authors: wang x, wang j. J Hum Genet. 2011 Apr;56(4):300-5. doi: 10.1038/jhg.2011.9. Epub 2011 Feb 10. J Hum Genet. 2011. PMID: 21307862

4

Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.

Zang L, Wang J, Jiang Y, Gu Q, Gao Z, Yang Y, Xiao J, Wu Y. Zang L, et al. Among authors: wang j. J Hum Genet. 2013 Apr;58(4):183-8. doi: 10.1038/jhg.2012.152. Epub 2013 Jan 31. J Hum Genet. 2013. PMID: 23364391

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: wang j. Brain. 2018 May 1;141(5):e36. doi: 10.1093/brain/awy029. Brain. 2018. PMID: 29444210 No abstract available.

6

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: wang l, wang j. 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.

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: wang j, wang t. 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: wang x, wang j. 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. Among authors: wang j. 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

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: wang j. 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.

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