Wang L - Search Results

1

Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

Shen Y, Chen X, Wang L, Guo J, Shen J, An Y, Zhu H, Zhu Y, Xin R, Bao Y, Gusella JF, Zhang T, Wu BL. Shen Y, et al. Among authors: wang l. Am J Med Genet B Neuropsychiatr Genet. 2011 Mar;156(2):225-32. doi: 10.1002/ajmg.b.31147. Epub 2010 Dec 28. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21302351

2

Distribution of dystrophin gene deletions in a Chinese population.

Li Y, Liu Z, OuYang S, Zhu Y, Wang L, Wu J. Li Y, et al. Among authors: wang l. J Int Med Res. 2016 Feb;44(1):99-108. doi: 10.1177/0300060515613223. Epub 2016 Jan 19. J Int Med Res. 2016. PMID: 26786758 Free PMC article.

3

Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.

Chen X, Wang J, Mitchell E, Guo J, Wang L, Zhang Y, Hodge JC, Shen Y. Chen X, et al. Among authors: wang l, wang j. BMC Med Genet. 2014 Aug 19;15:90. doi: 10.1186/s12881-014-0090-9. BMC Med Genet. 2014. PMID: 25135225 Free PMC article.

4

Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.

Chen X, Wang J, Xie H, Zhou W, Wu Y, Wang J, Qin J, Guo J, Gu Q, Zhang X, Ji T, Zhang Y, Xiong Z, Wang L, Wu X, Latham GJ, Jiang Y. Chen X, et al. Among authors: wang l, wang j. BMC Pediatr. 2015 Jul 15;15:77. doi: 10.1186/s12887-015-0394-8. BMC Pediatr. 2015. PMID: 26174701 Free PMC article.

5

Subtle mutation detection of SMN1 gene in Chinese spinal muscular atrophy patients: implication of molecular diagnostic procedure for SMN1 gene mutations.

Bai JL, Qu YJ, Cao YY, Li EZ, Wang LW, Li Y, Zhu YL, Zhang WH, Jin YW, Wang H, Song F. Bai JL, et al. Genet Test Mol Biomarkers. 2014 Aug;18(8):546-51. doi: 10.1089/gtmb.2014.0002. Epub 2014 Jul 11. Genet Test Mol Biomarkers. 2014. PMID: 25014214 Clinical Trial.

6

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: wang h, wang x, wang l, wang j. BMC Med Genet. 2010 May 11;11:72. doi: 10.1186/1471-2350-11-72. BMC Med Genet. 2010. PMID: 20459802 Free PMC article.

7

The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.

Wang J, Wang Y, Wang L, Chen WY, Sheng M. Wang J, et al. Among authors: wang l, wang y. BMC Med Genomics. 2020 May 19;13(1):70. doi: 10.1186/s12920-020-0726-x. BMC Med Genomics. 2020. PMID: 32429945 Free PMC article.

8

[Genetic and clinical study on 17 cases of Angelman syndrome with deletion of 15q11-13].

Bai JL, Song F, Zou LP, Yang XY, Qu YJ, Wang LW, Yang YL, Jin YW, Wang H. Bai JL, et al. Zhonghua Er Ke Za Zhi. 2010 Dec;48(12):939-43. Zhonghua Er Ke Za Zhi. 2010. PMID: 21215190 Chinese.

9

Association of copy numbers of survival motor neuron gene 2 and neuronal apoptosis inhibitory protein gene with the natural history in a Chinese spinal muscular atrophy cohort.

Qu YJ, Ge XS, Bai JL, Wang LW, Cao YY, Lu YY, Jin YW, Wang H, Song F. Qu YJ, et al. J Child Neurol. 2015 Mar;30(4):429-36. doi: 10.1177/0883073814553271. Epub 2014 Oct 20. J Child Neurol. 2015. PMID: 25330799

10

Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).

Wang J, Shang J, Wu Y, Gu Q, Xiong H, Ding C, Wang L, Gao Z, Wu X, Jiang Y. Wang J, et al. Among authors: wang l. J Hum Genet. 2011 Feb;56(2):138-42. doi: 10.1038/jhg.2010.146. Epub 2010 Dec 16. J Hum Genet. 2011. PMID: 21160490

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