Masica DL - Search Results

1

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: masica dl. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.

2

Phenotype-optimized sequence ensembles substantially improve prediction of disease-causing mutation in cystic fibrosis.

Masica DL, Sosnay PR, Cutting GR, Karchin R. Masica DL, et al. Hum Mutat. 2012 Aug;33(8):1267-74. doi: 10.1002/humu.22110. Epub 2012 May 22. Hum Mutat. 2012. PMID: 22573477 Free PMC article.

3

Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Masica DL, Sosnay PR, Raraigh KS, Cutting GR, Karchin R. Masica DL, et al. Hum Mol Genet. 2015 Apr 1;24(7):1908-17. doi: 10.1093/hmg/ddu607. Epub 2014 Dec 8. Hum Mol Genet. 2015. PMID: 25489051 Free PMC article.

4

Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.

Masica DL, Karchin R. Masica DL, et al. PLoS Comput Biol. 2016 May 12;12(5):e1004725. doi: 10.1371/journal.pcbi.1004725. eCollection 2016 May. PLoS Comput Biol. 2016. PMID: 27171182 Free PMC article. Review. No abstract available.

5

Correlation of somatic mutation and expression identifies genes important in human glioblastoma progression and survival.

Masica DL, Karchin R. Masica DL, et al. Cancer Res. 2011 Jul 1;71(13):4550-61. doi: 10.1158/0008-5472.CAN-11-0180. Epub 2011 May 9. Cancer Res. 2011. PMID: 21555372 Free PMC article.

6

Collections of simultaneously altered genes as biomarkers of cancer cell drug response.

Masica DL, Karchin R. Masica DL, et al. Cancer Res. 2013 Mar 15;73(6):1699-708. doi: 10.1158/0008-5472.CAN-12-3122. Epub 2013 Jan 21. Cancer Res. 2013. PMID: 23338612 Free PMC article.

7

Predicting survival in head and neck squamous cell carcinoma from TP53 mutation.

Masica DL, Li S, Douville C, Manola J, Ferris RL, Burtness B, Forastiere AA, Koch WM, Chung CH, Karchin R. Masica DL, et al. Hum Genet. 2015 May;134(5):497-507. doi: 10.1007/s00439-014-1470-0. Epub 2014 Aug 10. Hum Genet. 2015. PMID: 25108461 Free PMC article.

8

CRAVAT 4: Cancer-Related Analysis of Variants Toolkit.

Masica DL, Douville C, Tokheim C, Bhattacharya R, Kim R, Moad K, Ryan MC, Karchin R. Masica DL, et al. Cancer Res. 2017 Nov 1;77(21):e35-e38. doi: 10.1158/0008-5472.CAN-17-0338. Cancer Res. 2017. PMID: 29092935 Free PMC article.

9

Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).

Douville C, Masica DL, Stenson PD, Cooper DN, Gygax DM, Kim R, Ryan M, Karchin R. Douville C, et al. Among authors: masica dl. Hum Mutat. 2016 Jan;37(1):28-35. doi: 10.1002/humu.22911. Epub 2015 Oct 26. Hum Mutat. 2016. PMID: 26442818 Free PMC article.

10

Exome-Scale Discovery of Hotspot Mutation Regions in Human Cancer Using 3D Protein Structure.

Tokheim C, Bhattacharya R, Niknafs N, Gygax DM, Kim R, Ryan M, Masica DL, Karchin R. Tokheim C, et al. Among authors: masica dl. Cancer Res. 2016 Jul 1;76(13):3719-31. doi: 10.1158/0008-5472.CAN-15-3190. Epub 2016 Apr 28. Cancer Res. 2016. PMID: 27197156 Free PMC article.

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