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Page 1
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG); Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. Wang S, et al. Among authors: kumar y. Cell Rep. 2018 Sep 25;24(13):3441-3454.e12. doi: 10.1016/j.celrep.2018.08.082. Cell Rep. 2018. PMID: 30257206 Free PMC article.
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Wang S, Mandell JD, Kumar Y, Sun N, Morris MT, Arbelaez J, Nasello C, Dong S, Duhn C, Zhao X, Yang Z, Padmanabhuni SS, Yu D, King RA, Dietrich A, Khalifa N, Dahl N, Huang AY, Neale BM, Coppola G, Mathews CA, Scharf JM; Tourette International Collaborative Genetics Study (TIC Genetics); Tourette Syndrome Genetics Southern and Eastern Europe Initiative (TSGENESEE); Tourette Association of America International Consortium for Genetics (TAAICG); Fernandez TV, Buxbaum JD, De Rubeis S, Grice DE, Xing J, Heiman GA, Tischfield JA, Paschou P, Willsey AJ, State MW. Wang S, et al. Among authors: kumar y. Cell Rep. 2018 Dec 18;25(12):3544. doi: 10.1016/j.celrep.2018.12.024. Cell Rep. 2018. PMID: 30566877 Free article. No abstract available.
Forward and reverse mutations in stages of cancer development.
Hu T, Kumar Y, Shazia I, Duan SJ, Li Y, Chen L, Chen JF, Yin R, Kwong A, Leung GK, Mat WK, Wu Z, Long X, Chan CH, Chen S, Lee P, Ng SK, Ho TYC, Yang J, Ding X, Tsang SY, Zhou X, Zhang DH; International Cancer Genome Consortium; Zhou EX, Xu L, Poon WS, Wang HY, Xue H. Hu T, et al. Among authors: kumar y. Hum Genomics. 2018 Aug 22;12(1):40. doi: 10.1186/s40246-018-0170-6. Hum Genomics. 2018. PMID: 30134973 Free PMC article.
Copy number variation analysis based on AluScan sequences.
Yang JF, Ding XF, Chen L, Mat WK, Xu MZ, Chen JF, Wang JM, Xu L, Poon WS, Kwong A, Leung GK, Tan TC, Yu CH, Ke YB, Xu XY, Ke XY, Ma RC, Chan JC, Wan WQ, Zhang LW, Kumar Y, Tsang SY, Li S, Wang HY, Xue H. Yang JF, et al. Among authors: kumar y. J Clin Bioinforma. 2014 Dec 5;4(1):15. doi: 10.1186/s13336-014-0015-z. eCollection 2014. J Clin Bioinforma. 2014. PMID: 25558350 Free PMC article.
Massive interstitial copy-neutral loss-of-heterozygosity as evidence for cancer being a disease of the DNA-damage response.
Kumar Y, Yang J, Hu T, Chen L, Xu Z, Xu L, Hu XX, Tang G, Wang JM, Li Y, Poon WS, Wan W, Zhang L, Mat WK, Pun FW, Lee P, Cheong TH, Ding X, Ng SK, Tsang SY, Chen JF, Zhang P, Li S, Wang HY, Xue H. Kumar Y, et al. BMC Med Genomics. 2015 Jul 25;8:42. doi: 10.1186/s12920-015-0104-2. BMC Med Genomics. 2015. PMID: 26208496 Free PMC article.
Pan-cancer analysis of whole genomes.
ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium. Nature. 2020 Feb;578(7793):82-93. doi: 10.1038/s41586-020-1969-6. Epub 2020 Feb 5. Nature. 2020. PMID: 32025007 Free PMC article.
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S; MC3 Working Group; PCAWG novel somatic mutation calling methods working group; Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L; PCAWG Consortium. Bailey MH, et al. Nat Commun. 2020 Sep 21;11(1):4748. doi: 10.1038/s41467-020-18151-y. Nat Commun. 2020. PMID: 32958763 Free PMC article.
Sex differences in oncogenic mutational processes.
Li CH, Prokopec SD, Sun RX, Yousif F, Schmitz N; PCAWG Tumour Subtypes and Clinical Translation; Boutros PC; PCAWG Consortium. Li CH, et al. Nat Commun. 2020 Aug 28;11(1):4330. doi: 10.1038/s41467-020-17359-2. Nat Commun. 2020. PMID: 32859912 Free PMC article.
Author Correction: Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Bailey MH, Meyerson WU, Dursi LJ, Wang LB, Dong G, Liang WW, Weerasinghe A, Li S, Li Y, Kelso S; MC3 Working Group; PCAWG novel somatic mutation calling methods working group; Saksena G, Ellrott K, Wendl MC, Wheeler DA, Getz G, Simpson JT, Gerstein MB, Ding L; PCAWG Consortium. Bailey MH, et al. Nat Commun. 2020 Nov 30;11(1):6232. doi: 10.1038/s41467-020-20128-w. Nat Commun. 2020. PMID: 33257764 Free PMC article.
Inferring structural variant cancer cell fraction.
Cmero M, Yuan K, Ong CS, Schröder J; PCAWG Evolution and Heterogeneity Working Group; Corcoran NM, Papenfuss T, Hovens CM, Markowetz F, Macintyre G; PCAWG Consortium. Cmero M, et al. Nat Commun. 2020 Feb 5;11(1):730. doi: 10.1038/s41467-020-14351-8. Nat Commun. 2020. PMID: 32024845 Free PMC article.
958 results