Sun 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: sun 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

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.

Huang Z, Sun Y, Fan Y, Wang L, Liu H, Gong Z, Wang J, Yan H, Wang Y, Hu G, Wang R, Ye J, Han L, Qiu W, Zhang H, Liang L, Yang Y, Dauber A, Yu Y, Gu XF. Huang Z, et al. Among authors: sun y. Cell Physiol Biochem. 2018;49(1):295-305. doi: 10.1159/000492879. Epub 2018 Aug 23. Cell Physiol Biochem. 2018. PMID: 30138938 Free article.

3

Genetic Diagnostic Evaluation of Trio-Based Whole Exome Sequencing Among Children With Diagnosed or Suspected Autism Spectrum Disorder.

Du X, Gao X, Liu X, Shen L, Wang K, Fan Y, Sun Y, Luo X, Liu H, Wang L, Wang Y, Gong Z, Wang J, Yu Y, Li F. Du X, et al. Among authors: sun y. Front Genet. 2018 Nov 30;9:594. doi: 10.3389/fgene.2018.00594. eCollection 2018. Front Genet. 2018. PMID: 30555518 Free PMC article.

4

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

Sun Y, Ye X, Fan Y, Wang L, Luo X, Liu H, Gao X, Gong Z, Wang Y, Qiu W, Zhang H, Han L, Liang L, Ye H, Xiao B, Gu X, Yu Y. Sun Y, et al. Clin Chem. 2020 Mar 1;66(3):455-462. doi: 10.1093/clinchem/hvz033. Clin Chem. 2020. PMID: 32031585

5

Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.

Fan Y, Wang L, Sun Y, Xu T, Gong Z, Zhao Q, Qiu W, Liang L, Xiao B, Zhang H, Han L, Lin F, Xu R, Gu X, Yu Y. Fan Y, et al. Among authors: sun y. J Hum Genet. 2021 Apr;66(4):409-417. doi: 10.1038/s10038-020-00854-1. Epub 2020 Oct 10. J Hum Genet. 2021. PMID: 33040084

6

Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH).

Dai W, Zhang X, Liu H, Sun Y, Fan Y, Yu Y. Dai W, et al. Among authors: sun y. J Pediatr Endocrinol Metab. 2020 Sep 25;33(9):1225-1229. doi: 10.1515/jpem-2020-0058. J Pediatr Endocrinol Metab. 2020. PMID: 32687482

7

RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.

Zhang X, Qiu W, Liu H, Ye X, Sun Y, Fan Y, Yu Y. Zhang X, et al. Among authors: sun y. Ann Hum Genet. 2020 Nov;84(6):456-462. doi: 10.1111/ahg.12400. Epub 2020 Aug 10. Ann Hum Genet. 2020. PMID: 32776513

8

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. 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.

9

Identification of RUNX2 variants associated with cleidocranial dysplasia.

Gao X, Li K, Fan Y, Sun Y, Luo X, Wang L, Liu H, Gong Z, Wang J, Wang Y, Gu X, Yu Y. Gao X, et al. Among authors: sun y. Hereditas. 2019 Sep 16;156:31. doi: 10.1186/s41065-019-0107-7. eCollection 2019. Hereditas. 2019. PMID: 31548836 Free PMC article.

10

A 29 Mainland Chinese cohort of patients with Phelan-McDermid syndrome: genotype-phenotype correlations and the role of SHANK3 haploinsufficiency in the important phenotypes.

Xu N, Lv H, Yang T, Du X, Sun Y, Xiao B, Fan Y, Luo X, Zhan Y, Wang L, Li F, Yu Y. Xu N, et al. Among authors: sun y. Orphanet J Rare Dis. 2020 Nov 30;15(1):335. doi: 10.1186/s13023-020-01592-5. Orphanet J Rare Dis. 2020. PMID: 33256793 Free PMC article.

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