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Page 1
Pathogenic Germline Variants in 10,389 Adult Cancers.
Huang KL, Mashl RJ, Wu Y, Ritter DI, Wang J, Oh C, Paczkowska M, Reynolds S, Wyczalkowski MA, Oak N, Scott AD, Krassowski M, Cherniack AD, Houlahan KE, Jayasinghe R, Wang LB, Zhou DC, Liu D, Cao S, Kim YW, Koire A, McMichael JF, Hucthagowder V, Kim TB, Hahn A, Wang C, McLellan MD, Al-Mulla F, Johnson KJ; Cancer Genome Atlas Research Network; Lichtarge O, Boutros PC, Raphael B, Lazar AJ, Zhang W, Wendl MC, Govindan R, Jain S, Wheeler D, Kulkarni S, Dipersio JF, Reimand J, Meric-Bernstam F, Chen K, Shmulevich I, Plon SE, Chen F, Ding L. Huang KL, et al. Among authors: mashl rj. Cell. 2018 Apr 5;173(2):355-370.e14. doi: 10.1016/j.cell.2018.03.039. Cell. 2018. PMID: 29625052 Free PMC article.
Protein-structure-guided discovery of functional mutations across 19 cancer types.
Niu B, Scott AD, Sengupta S, Bailey MH, Batra P, Ning J, Wyczalkowski MA, Liang WW, Zhang Q, McLellan MD, Sun SQ, Tripathi P, Lou C, Ye K, Mashl RJ, Wallis J, Wendl MC, Chen F, Ding L. Niu B, et al. Among authors: mashl rj. Nat Genet. 2016 Aug;48(8):827-37. doi: 10.1038/ng.3586. Epub 2016 Jun 13. Nat Genet. 2016. PMID: 27294619 Free PMC article.
GenomeVIP: a cloud platform for genomic variant discovery and interpretation.
Mashl RJ, Scott AD, Huang KL, Wyczalkowski MA, Yoon CJ, Niu B, DeNardo E, Yellapantula VD, Handsaker RE, Chen K, Koboldt DC, Ye K, Fenyö D, Raphael BJ, Wendl MC, Ding L. Mashl RJ, et al. Genome Res. 2017 Aug;27(8):1450-1459. doi: 10.1101/gr.211656.116. Epub 2017 May 18. Genome Res. 2017. PMID: 28522612 Free PMC article.
CharGer: clinical Characterization of Germline variants.
Scott AD, Huang KL, Weerasinghe A, Mashl RJ, Gao Q, Martins Rodrigues F, Wyczalkowski MA, Ding L. Scott AD, et al. Among authors: mashl rj. Bioinformatics. 2019 Mar 1;35(5):865-867. doi: 10.1093/bioinformatics/bty649. Bioinformatics. 2019. PMID: 30102335 Free PMC article.
Database of evidence for precision oncology portal.
Sun SQ, Mashl RJ, Sengupta S, Scott AD, Wang W, Batra P, Wang LB, Wyczalkowski MA, Ding L. Sun SQ, et al. Among authors: mashl rj. Bioinformatics. 2018 Dec 15;34(24):4315-4317. doi: 10.1093/bioinformatics/bty531. Bioinformatics. 2018. PMID: 30535306 Free PMC article.
Dynamic host immune response in virus-associated cancers.
Cao S, Wylie KM, Wyczalkowski MA, Karpova A, Ley J, Sun S, Mashl RJ, Liang WW, Wang X, Johnson K, DiPersio JF, Gay H, Ratner L, Chen F, Adkins DR, Ding L. Cao S, et al. Among authors: mashl rj. Commun Biol. 2019 Mar 22;2:109. doi: 10.1038/s42003-019-0352-3. eCollection 2019. Commun Biol. 2019. PMID: 30911684 Free PMC article.
Genomic footprints of activated telomere maintenance mechanisms in cancer.
Sieverling L, Hong C, Koser SD, Ginsbach P, Kleinheinz K, Hutter B, Braun DM, Cortés-Ciriano I, Xi R, Kabbe R, Park PJ, Eils R, Schlesner M; PCAWG-Structural Variation Working Group; Brors B, Rippe K, Jones DTW, Feuerbach L; PCAWG Consortium. Sieverling L, et al. Nat Commun. 2020 Feb 5;11(1):733. doi: 10.1038/s41467-019-13824-9. Nat Commun. 2020. PMID: 32024817 Free PMC article.
High-coverage whole-genome analysis of 1220 cancers reveals hundreds of genes deregulated by rearrangement-mediated cis-regulatory alterations.
Zhang Y, Chen F, Fonseca NA, He Y, Fujita M, Nakagawa H, Zhang Z, Brazma A; PCAWG Transcriptome Working Group; PCAWG Structural Variation Working Group; Creighton CJ; PCAWG Consortium. Zhang Y, et al. Nat Commun. 2020 Feb 5;11(1):736. doi: 10.1038/s41467-019-13885-w. Nat Commun. 2020. PMID: 32024823 Free PMC article.
73 results