Soens ZT - Search Results

1

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.

Boone PM, Campbell IM, Baggett BC, Soens ZT, Rao MM, Hixson PM, Patel A, Bi W, Cheung SW, Lalani SR, Beaudet AL, Stankiewicz P, Shaw CA, Lupski JR. Boone PM, et al. Among authors: soens zt. Genome Res. 2013 Sep;23(9):1383-94. doi: 10.1101/gr.156075.113. Epub 2013 May 16. Genome Res. 2013. PMID: 23685542 Free PMC article.

2

Incidental copy-number variants identified by routine genome testing in a clinical population.

Boone PM, Soens ZT, Campbell IM, Stankiewicz P, Cheung SW, Patel A, Beaudet AL, Plon SE, Shaw CA, McGuire AL, Lupski JR. Boone PM, et al. Among authors: soens zt. Genet Med. 2013 Jan;15(1):45-54. doi: 10.1038/gim.2012.95. Epub 2012 Aug 9. Genet Med. 2013. PMID: 22878507 Free PMC article.

3

Integrative subcellular proteomic analysis allows accurate prediction of human disease-causing genes.

Zhao L, Chen Y, Bajaj AO, Eblimit A, Xu M, Soens ZT, Wang F, Ge Z, Jung SY, He F, Li Y, Wensel TG, Qin J, Chen R. Zhao L, et al. Among authors: soens zt. Genome Res. 2016 May;26(5):660-9. doi: 10.1101/gr.198911.115. Epub 2016 Feb 24. Genome Res. 2016. PMID: 26912414 Free PMC article.

4

GRIPT: a novel case-control analysis method for Mendelian disease gene discovery.

Wang J, Zhao L, Wang X, Chen Y, Xu M, Soens ZT, Ge Z, Wang PR, Wang F, Chen R. Wang J, et al. Among authors: soens zt. Genome Biol. 2018 Nov 26;19(1):203. doi: 10.1186/s13059-018-1579-x. Genome Biol. 2018. PMID: 30477545 Free PMC article.

5

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Soens ZT, Branch J, Wu S, Yuan Z, Li Y, Li H, Wang K, Xu M, Rajan L, Motta FL, Simões RT, Lopez-Solache I, Ajlan R, Birch DG, Zhao P, Porto FB, Sallum J, Koenekoop RK, Sui R, Chen R. Soens ZT, et al. Hum Mutat. 2017 Nov;38(11):1521-1533. doi: 10.1002/humu.23294. Epub 2017 Aug 18. Hum Mutat. 2017. PMID: 28714225 Free PMC article.

6

Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Wang H, Wang X, Zou X, Xu S, Li H, Soens ZT, Wang K, Li Y, Dong F, Chen R, Sui R. Wang H, et al. Among authors: soens zt. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3642-55. doi: 10.1167/iovs.14-15972. Invest Ophthalmol Vis Sci. 2015. PMID: 26047050 Free PMC article.

7

The phenotypic variability of HK1-associated retinal dystrophy.

Yuan Z, Li B, Xu M, Chang EY, Li H, Yang L, Wu S, Soens ZT, Li Y, Wong LC, Lewis RA, Sui R, Chen R. Yuan Z, et al. Among authors: soens zt. Sci Rep. 2017 Aug 1;7(1):7051. doi: 10.1038/s41598-017-07629-3. Sci Rep. 2017. PMID: 28765615 Free PMC article.

8

Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy.

Porto FBO, Jones EM, Branch J, Soens ZT, Maia IM, Sena IFG, Sampaio SAM, Simões RT, Chen R. Porto FBO, et al. Among authors: soens zt. Genes (Basel). 2017 Nov 29;8(12):355. doi: 10.3390/genes8120355. Genes (Basel). 2017. PMID: 29186038 Free PMC article.

9

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L, Wang F, Wang H, Li Y, Alexander S, Wang K, Willoughby CE, Zaneveld JE, Jiang L, Soens ZT, Earle P, Simpson D, Silvestri G, Chen R. Zhao L, et al. Among authors: soens zt. Hum Genet. 2015 Feb;134(2):217-30. doi: 10.1007/s00439-014-1512-7. Epub 2014 Dec 4. Hum Genet. 2015. PMID: 25472526 Free PMC article. Clinical Trial.

10

Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1.

Soens ZT, Li Y, Zhao L, Eblimit A, Dharmat R, Li Y, Chen Y, Naqeeb M, Fajardo N, Lopez I, Sun Z, Koenekoop RK, Chen R. Soens ZT, et al. Genet Med. 2016 Oct;18(10):1044-51. doi: 10.1038/gim.2015.205. Epub 2016 Jan 28. Genet Med. 2016. PMID: 26820066 Free PMC article.

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