Yu Y - Search Results

1

Integration of exome sequencing and metabolic evaluation for the diagnosis of children with urolithiasis.

Zhao Y, Fang X, Fan Y, Sun Y, He L, Xu M, Xu G, Li Y, Huang Y, Yu Y, Geng H. Zhao Y, et al. Among authors: yu y. World J Urol. 2021 Jul;39(7):2759-2765. doi: 10.1007/s00345-020-03449-9. Epub 2020 Sep 16. World J Urol. 2021. PMID: 32936332

2

Molecular defects identified by whole exome sequencing in a child with Fanconi anemia.

Zheng Z, Geng J, Yao RE, Li C, Ying D, Shen Y, Ying L, Yu Y, Fu Q. Zheng Z, et al. Among authors: yu y. Gene. 2013 Nov 10;530(2):295-300. doi: 10.1016/j.gene.2013.08.031. Epub 2013 Aug 22. Gene. 2013. PMID: 23973728

3

De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

Yu Y, Yao R, Wang L, Fan Y, Huang X, Hirschhorn J, Dauber A, Shen Y. Yu Y, et al. BMC Genomics. 2015 Sep 16;16(1):701. doi: 10.1186/s12864-015-1898-1. BMC Genomics. 2015. PMID: 26376624 Free PMC article.

4

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

Fan Y, Qiu W, Wang L, Gu X, Yu Y. Fan Y, et al. Among authors: yu y. Am J Med Genet A. 2016 Feb;170A(2):515-522. doi: 10.1002/ajmg.a.37454. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26545289

5

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.

Hu G, Fan Y, Wang L, Yao RE, Huang X, Shen Y, Yu Y, Gu X. Hu G, et al. Among authors: yu y. Mol Cytogenet. 2016 Feb 16;9:16. doi: 10.1186/s13039-016-0225-0. eCollection 2016. Mol Cytogenet. 2016. PMID: 26884814 Free PMC article.

6

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

Sun Y, Hu G, Liu H, Zhang X, Huang Z, Yan H, Wang L, Fan Y, Gu X, Yu Y. Sun Y, et al. Among authors: yu y. Am J Med Genet A. 2017 Feb;173(2):510-514. doi: 10.1002/ajmg.a.38025. Epub 2016 Oct 19. Am J Med Genet A. 2017. PMID: 27759909 Review.

7

Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia.

Sun Y, Hu G, Luo J, Fang D, Yu Y, Wang X, Chen J, Qiu W. Sun Y, et al. Among authors: yu y. J Hum Genet. 2017 Jun;62(6):647-651. doi: 10.1038/jhg.2017.10. Epub 2017 Feb 2. J Hum Genet. 2017. PMID: 28148924

8

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Fan Y, Zhang X, Wang L, Wang R, Huang Z, Sun Y, Yao R, Huang X, Ye J, Han L, Qiu W, Zhang H, Liang L, Gu X, Yu Y. Fan Y, et al. Among authors: yu y. Sci Rep. 2017 Mar 15;7:44536. doi: 10.1038/srep44536. Sci Rep. 2017. PMID: 28295047 Free PMC article.

9

Molecular defects identified by whole exome sequencing in a child with atypical mucopolysaccharidosis IIIB.

Zeng Q, Fan Y, Wang L, Huang Z, Gu X, Yu Y. Zeng Q, et al. Among authors: yu y. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):463-469. doi: 10.1515/jpem-2016-0333. J Pediatr Endocrinol Metab. 2017. PMID: 28306536

10

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Xu S, Fan Y, Sun Y, Wang L, Gu X, Yu Y. Xu S, et al. Among authors: yu y. BMC Med Genomics. 2017 Oct 30;10(1):62. doi: 10.1186/s12920-017-0298-6. BMC Med Genomics. 2017. PMID: 29084544 Free PMC article.

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