Shen Y - Search Results

1

Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants.

Hu X, Li H, Gui B, Xu Y, Wang J, Li N, Su J, Zhang S, Song Y, Wang Y, Luo J, Fan X, Wang J, Chen S, Gong C, Shen Y. Hu X, et al. Among authors: shen y. Clin Chim Acta. 2017 Nov;474:159-164. doi: 10.1016/j.cca.2017.09.022. Epub 2017 Sep 29. Clin Chim Acta. 2017. PMID: 28969986

2

When a "disease-causing mutation" is not a pathogenic variant.

Wang J, Shen Y. Wang J, et al. Among authors: shen y. Clin Chem. 2014 May;60(5):711-3. doi: 10.1373/clinchem.2013.215947. Epub 2013 Dec 20. Clin Chem. 2014. PMID: 24363373 No abstract available.

3

Novel frame-shift mutations of GLI3 gene in non-syndromic postaxial polydactyly patients.

Wang Z, Wang J, Li Y, Geng J, Fu Q, Xu Y, Shen Y. Wang Z, et al. Among authors: shen y. Clin Chim Acta. 2014 Jun 10;433:195-9. doi: 10.1016/j.cca.2014.03.012. Epub 2014 Mar 22. Clin Chim Acta. 2014. PMID: 24667698

4

Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield.

Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y. Geng J, et al. Among authors: shen y. BMC Genomics. 2014 Dec 17;15(1):1127. doi: 10.1186/1471-2164-15-1127. BMC Genomics. 2014. PMID: 25516202 Free PMC article.

5

Clinical and molecular evaluations of siblings with "pure" 11q23.3-qter trisomy or reciprocal monosomy due to a familial translocation t (10;11) (q26;q23.3).

Chen R, Li C, Xie B, Wang J, Fan X, Luo J, Hu X, Chen S, Shen Y. Chen R, et al. Among authors: shen y. Mol Cytogenet. 2014 Dec 24;7(1):101. doi: 10.1186/s13039-014-0101-8. eCollection 2014. Mol Cytogenet. 2014. PMID: 25648949 Free PMC article.

6

Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.

Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q. Wang J, et al. Among authors: shen y. Clin Chim Acta. 2015 Jun 15;446:9-14. doi: 10.1016/j.cca.2015.03.019. Epub 2015 Mar 20. Clin Chim Acta. 2015. PMID: 25801215

7

EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

Li C, Chen R, Fan X, Luo J, Qian J, Wang J, Xie B, Shen Y, Chen S. Li C, et al. Among authors: shen y. BMC Med Genet. 2015 Apr 11;16:23. doi: 10.1186/s12881-015-0165-2. BMC Med Genet. 2015. PMID: 25928000 Free PMC article.

8

Sequence Variant Interpretation 2.0: Perspective on New Guidelines for Sequence Variant Classification.

Chen S, Hu X, Shen Y. Chen S, et al. Among authors: shen y. Clin Chem. 2015 Nov;61(11):1317-9. doi: 10.1373/clinchem.2015.240812. Epub 2015 Jun 4. Clin Chem. 2015. PMID: 26044508 No abstract available.

9

PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.

Fu C, Chen R, Zhang S, Luo S, Wang J, Chen Y, Zheng H, Su J, Hu X, Fan X, Luo J, Yi S, Lai Y, Li C, Xie B, Shen Y, Gu X, Chen S. Fu C, et al. Among authors: shen y. Clin Chim Acta. 2015 Oct 23;450:322-6. doi: 10.1016/j.cca.2015.09.008. Epub 2015 Sep 8. Clin Chim Acta. 2015. PMID: 26362610

10

Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children.

Yao R, Wang L, Yu Y, Wang J, Shen Y. Yao R, et al. Among authors: shen y. J Dermatol. 2016 May;43(5):537-42. doi: 10.1111/1346-8138.13169. Epub 2015 Oct 13. J Dermatol. 2016. PMID: 26458495

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