Jiang Y - Search Results

1

Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD.

Granadillo JL, P A Stegmann A, Guo H, Xia K, Angle B, Bontempo K, Ranells JD, Newkirk P, Costin C, Viront J, Stumpel CT, Sinnema M, Panis B, Pfundt R, Krapels IPC, Klaassens M, Nicolai J, Li J, Jiang Y, Marco E, Canton A, Latronico AC, Montenegro L, Leheup B, Bonnet C, M Amudhavalli S, Lawson CE, McWalter K, Telegrafi A, Pearson R, Kvarnung M, Wang X, Bi W, Rosenfeld JA, Shinawi M. Granadillo JL, et al. Among authors: jiang y. J Med Genet. 2020 Oct;57(10):717-724. doi: 10.1136/jmedgenet-2019-106470. Epub 2020 Mar 9. J Med Genet. 2020. PMID: 32152250

2

Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation.

Wu Y, Ji T, Wang J, Xiao J, Wang H, Li J, Gao Z, Yang Y, Cai B, Wang L, Zhou Z, Tian L, Wang X, Zhong N, Qin J, Wu X, Jiang Y. Wu Y, et al. Among authors: jiang y. BMC Med Genet. 2010 May 11;11:72. doi: 10.1186/1471-2350-11-72. BMC Med Genet. 2010. PMID: 20459802 Free PMC article.

3

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: jiang y. 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

4

Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

Zhang Y, Kong W, Gao Y, Liu X, Gao K, Xie H, Wu Y, Zhang Y, Wang J, Gao F, Wu X, Jiang Y. Zhang Y, et al. Among authors: jiang y. PLoS One. 2015 Nov 6;10(11):e0141782. doi: 10.1371/journal.pone.0141782. eCollection 2015. PLoS One. 2015. PMID: 26544041 Free PMC article.

5

Mucopolysaccharidosis IIIB and mild skeletal anomalies: coexistence of NAGLU and CYP26B1 missense variations in the same patient in a Chinese family.

Li J, Xie H, Jiang Y. Li J, et al. Among authors: jiang y. BMC Med Genet. 2018 Apr 2;19(1):51. doi: 10.1186/s12881-018-0562-4. BMC Med Genet. 2018. PMID: 29606097 Free PMC article.

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: jiang y. 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

Mosaicism and incomplete penetrance of PCDH19 mutations.

Liu A, Yang X, Yang X, Wu Q, Zhang J, Sun D, Yang Z, Jiang Y, Wu X, Wei L, Zhang Y. Liu A, et al. Among authors: jiang y. J Med Genet. 2019 Feb;56(2):81-88. doi: 10.1136/jmedgenet-2017-105235. Epub 2018 Oct 4. J Med Genet. 2019. PMID: 30287595 Free PMC article.

8

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: jiang y. Gene. 2019 Jun 5;700:168-175. doi: 10.1016/j.gene.2019.03.037. Epub 2019 Mar 21. Gene. 2019. PMID: 30904718

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: jiang y. 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

Germline de novo variants in CSNK2B in Chinese patients with epilepsy.

Li J, Gao K, Cai S, Liu Y, Wang Y, Huang S, Zha J, Hu W, Yu S, Yang Z, Xie H, Yan H, Wang J, Wu Y, Jiang Y. Li J, et al. Among authors: jiang y. Sci Rep. 2019 Nov 29;9(1):17909. doi: 10.1038/s41598-019-53484-9. Sci Rep. 2019. PMID: 31784560 Free PMC article.

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