Category: 2015

A combination of molecular markers and clinical features improve the classification of pancreatic cysts A

Springer S, Wang Y, Dal Molin M, Masica DL, Jiao Y, Kinde I, Blackford A, Raman SP, Wolfgang CL, Tomita T, Niknafs N, Douville C, Ptak J, Dobbyn L, Allen PJ, Klimstra D, Schattner MA, Schmidt CM, Yip-Schneider M, Cummings OW, Brand RE, Zeh JH, Singhi AD, Scarpa A, Salvia R, Malleo G, Zamboni G, …

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Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns P

Turner TN, Douville C, Kim D, Stenson PD, Cooper DN, Chakravarti A, Karchin R (2015) Proteins linked to autosomal dominant and autosomal recessive disorders harbor characteristic rare missense mutation distribution patterns Hum Mol Genet. 24(21):5995-6002

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The genomic landscape of response to EGFR blockade in colorectal cancer T

Bertotti A, Papp E, Jones S, Adleff V, Anagnostou V, Sausen M, Phallen J, Tokheim C, Niknafs N, Nesselbush M, Lytle K, Cottino F, Migliardi G, Zanella ER, Ribero D, Russolillo N, Mellano A, Muratore A, Paraluppi G, Salizzoni M, Marsoni S, Kragh M, Lantto J, Cassingena A, Li QK, Karchin R, Scharpf R, Sartore-Bianchi …

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SubClonal Hierarchy Inference from Somatic Mutations: Automatic Reconstruction of Cancer Evolutionary Trees from Multi-region Next Generation Sequencing S

Niknafs N, Beleva-Guthrie V, Naiman DQ, Karchin R. SubClonal Hierarchy Inference from Somatic Mutations: Automatic Reconstruction of Cancer Evolutionary Trees from Multi-region Next Generation Sequencing. PLoS Comput Biol. 2015 Oct 5;11(10):e1004416. doi: 10.1371/journal.pcbi.1004416. PMID: 26436540; PMCID: PMC4593588.

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Genomic alterations in head and neck squamous cell carcinoma determined by cancer gene-targeted sequencing G

Chung CH, Guthrie VB, Masica DL, Tokheim C, Kang H, Richmon J, Agrawal N, Fakhry C, Quon H, Subramaniam RM, Zuo Z, Seiwert T, Chalmers ZR, Frampton GM, Ali SM, Yelensky R, Stephens PJ, Miller VA, Karchin R, Bishop JA. Genomic alterations in head and neck squamous cell carcinoma determined by cancer gene-targeted sequencing. Ann …

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

Masica DL, Li S, Douville C, Manola J, Ferris RL, Burtness B, Forastiere AA, Koch WM, Chung CH, Karchin R (2015) Predicting survival in head and neck squamous-cell carcinoma from TP53 mutation. Human Genetics. 134(5):497-507

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Human genetics special issue on computational molecular medicine H

Karchin R, Cline MS. (2015) Human genetics special issue on computational molecular medicine Human Genetics. 134(5):455-7

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Cleaved NOTCH1 Expression Pattern in Head and Neck Squamous Cell Carcinoma Is Associated with NOTCH1 Mutation, HPV Status, and High-Risk Features C

Rettig EM, Chung CH, Bishop JA, Howard JD, Sharma R, Li RJ, Douville C, Karchin R, Izumchenko E, Sidransky D, Koch WM, Califano J, Agrawal N, Fakhry C (2015) Cleaved NOTCH1 expression pattern in head and neck squamous cell carcinoma is associated with NOTCH1 mutation, HPV status and high-risk clinical features. Cancer Prev Res. 8(4):287-95

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Germline & somatic mosaicism: the 2014 annual scientific meeting of the Human Genome Variation Society G

Oetting WS, Greenblatt MS, Brookes AJ, Karchin R, Mooney SD (2015) Germline and somatic mosaicism: the 2014 annual scientific meeting of the Human Genome Variation Society. Human Mutat. 36(3):390-3

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