Wu B - Search Results

1

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.

2

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.

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

Mutations in Interleukin-10 Receptor and Clinical Phenotypes in Patients with Very Early Onset Inflammatory Bowel Disease: A Chinese VEO-IBD Collaboration Group Survey.

Huang Z, Peng K, Li X, Zhao R, You J, Cheng X, Wang Z, Wang Y, Wu B, Wang H, Zeng H, Yu Z, Zheng C, Wang Y, Huang Y. Huang Z, et al. Among authors: wu b. Inflamm Bowel Dis. 2017 Apr;23(4):578-590. doi: 10.1097/MIB.0000000000001058. Inflamm Bowel Dis. 2017. PMID: 28267044

5

First reported Chinese case of guanidinoacetate methyltransferase deficiency in a 4-year-old child.

Sun W, Wang Y, Zu Z, Jiang Y, Lu W, Wang H, Wu B, Zhang P, Peng X, Zhou H. Sun W, et al. Among authors: wu b. Clin Chim Acta. 2017 Jul;470:42-45. doi: 10.1016/j.cca.2017.04.013. Epub 2017 Apr 22. Clin Chim Acta. 2017. PMID: 28438604

6

One Novel 2.43Kb Deletion and One Single Nucleotide Mutation of the INSR Gene in a Chinese Neonate with Rabson-Mendenhall Syndrome.

Chen X, Wang H, Wu B, Dong X, Liu B, Chen H, Lu Y, Zhou W, Yang L. Chen X, et al. Among authors: wu b. J Clin Res Pediatr Endocrinol. 2018 Jun 1;10(2):183-187. doi: 10.4274/jcrpe.5080. Epub 2017 Oct 30. J Clin Res Pediatr Endocrinol. 2018. PMID: 29082893 Free PMC article.

7

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

8

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

Kong Y, Yan K, Hu L, Wang M, Dong X, Lu Y, Wu B, Wang H, Yang L, Zhou W. Kong Y, et al. Among authors: wu b. Clin Chim Acta. 2018 Aug;483:14-19. doi: 10.1016/j.cca.2018.03.027. Epub 2018 Apr 9. Clin Chim Acta. 2018. PMID: 29649454

9

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.

10

Umbilical Cord Blood Transplantation Corrects Very Early-Onset Inflammatory Bowel Disease in Chinese Patients With IL10RA-Associated Immune Deficiency.

Peng K, Qian X, Huang Z, Lu J, Wang Y, Zhou Y, Wang H, Wu B, Wang Y, Chen L, Zhai X, Huang Y. Peng K, et al. Among authors: wu b. Inflamm Bowel Dis. 2018 Jun 8;24(7):1416-1427. doi: 10.1093/ibd/izy028. Inflamm Bowel Dis. 2018. PMID: 29788474

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