Sun Y - Search Results

1

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.

He Y, Ji X, Yan H, Ye X, Liu Y, Wei W, Xiao B, Sun Y. He Y, et al. Among authors: sun y. Gene. 2018 Jun 20;660:13-17. doi: 10.1016/j.gene.2018.03.063. Epub 2018 Mar 20. Gene. 2018. PMID: 29572195

2

Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities.

Xiao B, Qiu W, Ji X, Liu X, Huang Z, Liu H, Fan Y, Xu Y, Liu Y, Yie H, Wei W, Yan H, Gong Z, Shen L, Sun Y. Xiao B, et al. Among authors: sun y. Am J Med Genet A. 2018 Jan;176(1):107-115. doi: 10.1002/ajmg.a.38542. Epub 2017 Nov 21. Am J Med Genet A. 2018. PMID: 29159939

3

[Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing].

Wang H, Jiang W, Dai M, Xiao B, Xu Y, Sun Y, Liu Y, Ying X, Sun Y, Wei W, Ji X. Wang H, et al. Among authors: sun y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Jul 10;36(7):686-689. doi: 10.3760/cma.j.issn.1003-9406.2019.07.007. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 31302911 Chinese.

4

Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing.

Xu Y, Wang H, Xiao B, Wei W, Liu Y, Ye H, Ying X, Chen Y, Liu X, Ji X, Sun Y. Xu Y, et al. Among authors: sun y. Gene. 2018 Mar 1;645:113-118. doi: 10.1016/j.gene.2017.12.037. Epub 2017 Dec 19. Gene. 2018. PMID: 29273555

5

A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth.

Xiao B, Ji X, Wei W, Hui Y, Sun Y. Xiao B, et al. Among authors: sun y. Mol Syndromol. 2020 Jan;10(5):286-290. doi: 10.1159/000501376. Epub 2019 Jul 5. Mol Syndromol. 2020. PMID: 32021601 Free PMC article.

6

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Menke LA; DDD study; Gardeitchik T, Hammond P, Heimdal KR, Houge G, Hufnagel SB, Ji J, Johansson S, Kant SG, Kinning E, Leon EL, Newbury-Ecob R, Paolacci S, Pfundt R, Ragge NK, Rinne T, Ruivenkamp C, Saitta SC, Sun Y, Tartaglia M, Terhal PA, van Essen AJ, Vigeland MD, Xiao B, Hennekam RC. Menke LA, et al. Among authors: sun y. Am J Med Genet A. 2018 Apr;176(4):862-876. doi: 10.1002/ajmg.a.38626. Epub 2018 Feb 20. Am J Med Genet A. 2018. PMID: 29460469

7

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population.

Wang R, Shen N, Ye J, Han L, Qiu W, Zhang H, Liang L, Sun Y, Fan Y, Wang L, Wang Y, Gong Z, Liu H, Wang J, Yan H, Blau N, Gu X, Yu Y. Wang R, et al. Among authors: sun y. Clin Chim Acta. 2018 Jun;481:132-138. doi: 10.1016/j.cca.2018.02.035. Epub 2018 Feb 28. Clin Chim Acta. 2018. PMID: 29499199

8

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: sun 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.

9

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: sun y. Sci Rep. 2017 Mar 15;7:44536. doi: 10.1038/srep44536. Sci Rep. 2017. PMID: 28295047 Free PMC article.

10

Next-generation diagnostics: gene panel, exome, or whole genome?

Sun Y, Ruivenkamp CA, Hoffer MJ, Vrijenhoek T, Kriek M, van Asperen CJ, den Dunnen JT, Santen GW. Sun Y, et al. Hum Mutat. 2015 Jun;36(6):648-55. doi: 10.1002/humu.22783. Epub 2015 Apr 17. Hum Mutat. 2015. PMID: 25772376

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

65,329 results

Search Page

Filters