Wu B - Search Results

1

A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.

Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X. Xu X, et al. Among authors: wu b. BMC Med Genet. 2012 Aug 21;13:75. doi: 10.1186/1471-2350-13-75. BMC Med Genet. 2012. PMID: 22909152 Free PMC article.

2

Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

Zhang LM, An Y, Pan G, Ding YF, Zhou YF, Yao YH, Wu BL, Zhou SZ. Zhang LM, et al. Among authors: wu bl. J Child Neurol. 2015 Sep;30(10):1263-9. doi: 10.1177/0883073814556887. Epub 2014 Nov 17. J Child Neurol. 2015. PMID: 25403460

3

KRAS G12D mosaic mutation in a Chinese linear nevus sebaceous syndrome infant.

Wang H, Qian Y, Wu B, Zhang P, Zhou W. Wang H, et al. Among authors: wu b. BMC Med Genet. 2015 Oct 31;16:101. doi: 10.1186/s12881-015-0247-1. BMC Med Genet. 2015. PMID: 26521233 Free PMC article.

4

Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development.

Dang T, Duan WY, Yu B, Tong DL, Cheng C, Zhang YF, Wu W, Ye K, Zhang WX, Wu M, Wu BB, An Y, Qiu ZL, Wu BL. Dang T, et al. Among authors: wu bb, wu w, wu m, wu bl. Mol Psychiatry. 2018 Mar;23(3):747-758. doi: 10.1038/mp.2016.253. Epub 2017 Feb 7. Mol Psychiatry. 2018. PMID: 28167836 Free PMC article.

5

Speech and language delay in a patient with WDR4 mutations.

Chen X, Gao Y, Yang L, Wu B, Dong X, Liu B, Lu Y, Zhou W, Wang H. Chen X, et al. Among authors: wu b. Eur J Med Genet. 2018 Aug;61(8):468-472. doi: 10.1016/j.ejmg.2018.03.007. Epub 2018 Mar 26. Eur J Med Genet. 2018. PMID: 29597095

6

Novel aggrecan variant, p. Gln2364Pro, causes severe familial nonsyndromic adult short stature and poor growth hormone response in Chinese children.

Xu D, Sun C, Zhou Z, Wu B, Yang L, Chang Z, Zhang M, Xi L, Cheng R, Ni J, Luo F. Xu D, et al. Among authors: wu b. BMC Med Genet. 2018 May 16;19(1):79. doi: 10.1186/s12881-018-0591-z. BMC Med Genet. 2018. PMID: 29769040 Free PMC article.

7

A novel TSC2 missense variant associated with a variable phenotype of tuberous sclerosis complex: case report of a Chinese family.

Wang F, Xiong S, Wu L, Chopra M, Hu X, Wu B. Wang F, et al. Among authors: wu b, wu l. BMC Med Genet. 2018 May 30;19(1):90. doi: 10.1186/s12881-018-0611-z. BMC Med Genet. 2018. PMID: 29843636 Free PMC article.

8

Genetic aetiology of early infant deaths in a neonatal intensive care unit.

Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, Hu L, Cheng G, Wang L, Zhou W. Yang L, et al. Among authors: wu b. J Med Genet. 2020 Mar;57(3):169-177. doi: 10.1136/jmedgenet-2019-106221. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501239

9

Optimized trio genome sequencing (OTGS) as a first-tier genetic test in critically ill infants: practice in China.

Wang H, Lu Y, Dong X, Lu G, Cheng G, Qian Y, Ni Q, Zhang P, Yang L, Wu B, Zhou W. Wang H, et al. Among authors: wu b. Hum Genet. 2020 Apr;139(4):473-482. doi: 10.1007/s00439-019-02103-8. Epub 2020 Jan 21. Hum Genet. 2020. PMID: 31965297 Clinical Trial.

10

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Dong X, Liu B, Yang L, Wang H, Wu B, Liu R, Chen H, Chen X, Yu S, Chen B, Wang S, Xu X, Zhou W, Lu Y. Dong X, et al. Among authors: wu b. J Med Genet. 2020 Aug;57(8):558-566. doi: 10.1136/jmedgenet-2019-106377. Epub 2020 Jan 31. J Med Genet. 2020. PMID: 32005694 Free PMC article.

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