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The genetic architecture of neuropsychiatric traits: mechanism, polygenicity, andgenome functionGamazon, E.R.

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Citation for published version (APA):Gamazon, E. R. (2016). The genetic architecture of neuropsychiatric traits: mechanism, polygenicity, andgenome function

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Download date: 29 May 2018

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529

List of Publications

1. The genetic architecture of type 2 diabetes. Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JR, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SC, Varga TV, Green T, Beer NL et al. Nature. 2016 Jul 11. doi: 10.1038/nature18642. [Epub ahead of print]. PMID: 27398621. Received coverage in Nature News.

2. Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx. Wang J, Gamazon ER, Pierce BL, Stranger BE, Im HK, Gibbons RD, Cox NJ, Nicolae DL, Chen LS. American Journal of Human Genetics. 2016 Mar 29. pii: S0002-9297(16)00071-9. doi: 10.1016/j.ajhg.2016.02.020. [Epub ahead of print] PMID: 27040689.

3. Novel genetic predictors of venous thromboembolism risk in African Americans. Hernandez W, Gamazon ER, Smithberger E, O’Brien TJ, Harralson AF, Tuck M, Barbour A, Kittles RA, Cavallari LH, Perera MA. Blood. 2016 Feb 17. pii: blood-2015-09-668525. [Epub ahead of print] PMID: 26888256. Commentary.

4. A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Hungate EA, Vora SR, Gamazon ER, Moriyama T, Best T, Hulur I, Lee Y, Evans TJ, Ellinghaus E, Stanulla M, Rudant J, Orsi L, Clavel J, Milne E, Scott RJ, Pui CH, Cox NJ, Loh ML, Yang JJ, Skol AD, Onel K. Nature Communications. 2016 Feb 12;7:10635. doi: 10.1038/ncomms10635. PMID: 26868379.

5. Alternative Splicing and Genome Evolution. Gamazon ER. (Jan 2016) In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0026311]

6. Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Chhibber A*, French CE*, Yee SW*, Gamazon ER*, Theusch E, Qin X, Webb A, Papp AC, Wang A, Simmons CQ, Konkashbaev A, Chaudhry AS, Mitchel K, Stryke D, Ferrin TE, Weiss ST, Kroetz DL, Sadee W, Nickerson DA, Krauss RM, George AL, Schuetz EG, Medina MW, Cox NJ, Scherer SE, Giacomini KM, Brenner SE. Pharmacogenomics Journal. 2016;ahead of print. PMID: 26856248. *Contributed equally.

7. Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. Below JE, Parra EJ, Gamazon ER, Torres J, Krithika S, Candille S, Lu Y, Manichakul A, Peralta-Romero J, Duan Q, Li Y, Morris AP, Gottesman O, Bottinger E, Wang XQ, Taylor KD, Ida Chen YD, Rotter JI, Rich SS, Loos RJ, Tang H, Cox NJ, Cruz M, Hanis CL, Valladares-Salgado A. Scientific Reports. 2016 Jan 19;6:19429. doi: 10.1038/srep19429. PMID: 26780889.

8. A gene-based association method for mapping traits using reference transcriptome data. Gamazon ER, Wheeler HE, Shah KP, Mozaffari SV, Aquino-Michaels K, Carroll RJ, Eyler AE, Denny JC; GTEx Consortium, Nicolae DL, Cox NJ, Im HK. Nature Genetics. 2015 Aug 10. doi: 10.1038/ng.3367. [Epub ahead of print] PMID: 26258848.

9. Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: A report from the children’s oncology group. Kutny MA, Alonzo TA, Gamazon ER, Gerbing RB, Geraghty D, Lange B, Heerema NA, Sung L, Aplenc R, Franklin J, Raimondi SC, Hirsch BA, Konkashbaev A, Cox NJ, Onel K, Gamis AS, Meshinchi S. Leukemia. 2015 Jul 1. doi: 10.1038/leu.2015.171. [Epub ahead of print] No abstract available. PMID: 26126966.

530 10. A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13. Evans PD, Mueller KL, Gamazon ER, Cox NJ, Tomblin JB. Genes Brain Behav. 2015 Jun;14(5):387-97. doi: 10.1111/gbb.12223. PMID: 25997078.

11. The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. The GTEx Consortium. Science. 8 May 2015. 348 (6235), 648-660. Selected for front cover in Science.

12. The impact of human copy number variation on gene expression. Gamazon ER, Stranger BE. Briefings in Functional Genomics. 2015 Apr 27. pii: elv017. [Epub ahead of print] Review. PMID: 25922366.

13. SCAN database: facilitating integrative analyses of cytosine modification and expression QTL. Zhang W*, Gamazon ER*, Zhang X*, Konkashbaev A, Liu C, Szilágyi KL, Dolan ME, Cox NJ. Database (Oxford). 2015 Mar 27;2015. pii: bav025. doi: 10.1093/database/bav025. Print 2015. PMID: 25818895. *Contributed equally.

14. Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. Hulur I, Gamazon ER, Skol AD, Xicola RM, Llor X, Onel K, Ellis NA, Kupfer SS. BMC Genomics. 2015 Feb 27;16(1):138. [Epub ahead of print] PMID: 25766683.

15. MicroRNA biogenesis and cellular proliferation. Lenkala D, Gamazon ER, LaCroix B, Im HK, Huang RS. Transl Research. 2015 Feb 7. pii: S1931-5244(15)00039-0. doi: 10.1016/j.trsl.2015.01.012. [Epub ahead of print] PMID: 25724890.

16. Structural Architecture of SNP Effects on Complex Traits. Gamazon ER, Cox NJ, Davis LK. American Journal of Human Genetics. 2014 Oct 7. pii: S0002-9297(14)00392-9. doi: 10.1016/j.ajhg.2014.09.009. [Epub ahead of print]. PMID: 25307299. AJHG Editors’ Corner.

17. Cross-Tissue and Tissue-Specific eQTLs: Partitioning the Heritability of a Complex Trait. Torres JM, Gamazon ER, Parra EJ, Below JE, Valladares-Salgado A, Wacher N, Cruz M, Hanis CL, Cox NJ. American Journal of Human Genetics. 2014 Nov 6. doi: 10.1016/j.ajhg.2014.10.001. AJHG Editors’ Corner.

18. Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib. Maitland ML, Xu CF, Cheng YC, Kistner-Griffin E, Ryan KA, Karrison TG, Das S, Torgerson D, Gamazon E, Thomeas V, Levine MR, Wilson PA, et al. Clinical Cancer Research. 2014 Nov 19. pii: clincanres.1683.2014. [Epub ahead of print]

19. Genome-wide Interrogation of Longitudinal FEV1 in Asthmatic Children. Wu K*, Gamazon ER*, Im HK, Geeleher P,et al. American Journal of Respiratory and Critical Care Medicine. 2014. PMID: 25221879. *Contributed equally. Editorial highight.

20. Genetic variant in folate homeostasis associated with lower warfarin dose in African Americans. Daneshjou R*, Gamazon ER*, Burkley B, Cavallari LH, et al. Blood. 2014 Jul 30. pii: blood-2014-04-568436. [Epub ahead of print]. PMID: 25079360. *Contributed equally. Commentary.

21. Cytotoxic and Pathogenic Properties of Klebsiella oxytoca. Darby A, Lertpiriyapong K, Sarkar U, Seneviratne U, Park DS, Gamazon ER, Batchelder C, Cheung C, Buckley EM, Taylor NS, Shen Z, Tannenbaum SR, Wishnok JS, Fox JG. PLoS ONE. 2014 Jul 24;9(7):e100542. doi: 10.1371/journal.pone.0100542. eCollection 2014. PMID: 25057966.

22. Cross-disorder genome-wide analyses suggest a complex genetic relationship between tourette syndrome and obsessive-compulsive disorder. Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, et al. The American Journal of Psychiatry. 2014 Aug 26. doi: 10.1176/appi.ajp.2014.13101306. [Epub ahead of print]. PMID: 25158072.

23. Genetic association signal near NTN4 in Tourette Syndrome. Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, Stamenkovic M, Hebebrand J, Noethen M, Nagy P, Barta C, Tarnok Z, Rizzo R, Depienne C, Worbe Y, Hartmann A, Cath DC, Budman

531 CL, Sandor P, Barr C, Wolanczyk T, Singer H, Chou IC, Grados M, Posthuma D, Rouleau GA, Aschauer H, Freimer NB, Pauls DL, Cox NJ, Mathews CA, Scharf JM. Annals of Neurology. 2014 Jul 10. doi: 10.1002/ana.24215. [Epub ahead of print]. PMID: 25042818.

24. Linking the genetic architecture of cytosine modifications with human complex traits. Zhang X, Moen EL, Liu C, Mu W, Gamazon ER, Delaney SM, Wing C, Godley LA, Dolan ME, Zhang W. Human Molecular Genetics. 2014 Jun 18. pii: ddu313. [Epub ahead of print]. PMID: 24943591.

25. Genetic Factors Affecting Gene Transcription and Catalytic Activity of UDP-Glucuronosyltransferases in Human Liver. Liu W, Ramírez J, Gamazon ER, Mirkov S, Chen P, Wu K, Sun C, Cox NJ, Cook E Jr, Das S, Ratain MJ. Human Molecular Genetics. 2014 May 30. pii: ddu268. [Epub ahead of print]. PMID: 24879639.

26. Poly-Omic Prediction of Complex Traits: OmicKriging. Wheeler HE, Aquino-Michaels K, Gamazon ER, Trubetskoy VV, Dolan ME, Huang RS, Cox NJ and Im HK. (2014), Poly-Omic Prediction of Complex Traits: OmicKriging. Genetic Epidemiology. doi: 10.1002/gepi.21808.

27. Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity. Lacroix B*, Gamazon ER*, Lenkala D, Im HK, Geeleher P, Ziliak D, Cox NJ, Huang RS. BMC Genomics. 2014 Apr 16;15(1):292. doi: 10.1186/1471-2164-15-292. PMID: 24739237. *Contributed equally.

28. Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. Hart AB, Gamazon ER, Engelhardt BE, Sklar P, Kähler AK, Hultman CM, Sullivan PF, Neale BM, Faraone SV; Psychiatric Genomics Consortium: ADHD Subgroup, de Wit H, Cox NJ, Palmer AA. Proceedings of the National Academy of Sciences. 2014 Apr 7. PMID: 24711425. ScienceDaily.

29. Obesity-associated variants within FTO form long-range functional connections with IRX3. Smemo S, Tena JT, Kim K, Gamazon ER, Sakabe NJ, Gómez-Marín C, Aneas I, Credidio FL, Sobreira DR, et al. Nature. 2014 Mar 12. Selected for F1000. Nature Research Highlight. ScienceDaily.

30. The impact of microRNA expression on cellular proliferation. Lenkala D, Lacroix B, Gamazon ER, Geeleher P, Im HK, Huang RS. Human Genetics. 2014 Mar 8. PMID: 24609542.

31. Integrating Cell-Based and Clinical Genome-Wide Studies to Identify Genetic Variants Contributing to Treatment Failure in Neuroblastoma Patients. Pinto N*, Gamazon ER*, Antao N, Myers J, Stark AL, Konkashbaev A, Kyung Im H, Diskin SJ, London WB, Ludeman SM, Maris JM, Cox NJ, Cohn SL, Dolan ME. Clinical Pharmacology & Therapeutics. 2014 Feb 18. doi: 10.1038/clpt.2014.37. PMID: 24549002. *Contributed equally. Selected for F1000.

32. A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age. Ahsan H, Halpern J, Kibriya MG, Pierce BL, Tong L, Gamazon ER, McGuire V, Felberg A, Shi J, Jasmine F, et al. Cancer Epidemiology, Biomarkers & Prevention. 2014 Feb 3. PMID: 24493630.

33. Genomics of alternative splicing: evolution, development and pathophysiology. Gamazon ER, Stranger BE. Human Genetics. 2014 Jan 1. PMID: 24378600.

34. A pharmacogenetic study of aldehyde oxidase I in patients treated with XK469. Ramirez J, Kim TW, Liu W, Myers JL, Mirkov S, Owzar K, Watson D, Mulkey F, Gamazon ER, Stock W, Undevia S, Innocenti F, Ratain MJ. Pharmacogenetics and Genomics. 2013 Dec 2. PMID: 24300566.

35. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture. Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, et al. PLoS Genetics. 2013. PMID: 24204291.

532 36. Discovery and Functional Assessment of Gene Variants in the Vascular Endothelial Growth Factor Pathway. Paré-Brunet L, Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F. Human Mutation. 2013 Nov 4. doi: 10.1002/humu.22475. PMID: 24186849.

37. Translating pharmacogenomics discoveries into the clinic: an implementation framework. Huang RS, Gamazon ER. Genome Medicine. 2013 Oct 18;5(10):94. PMID: 24134796

38. Ethnicity-specific pharmacogenetics: the case of warfarin in African Americans. Hernandez W, Gamazon ER, Aquino-Michaels K, Patel S, O’Brien TJ, Harralson AF, Kittles RA, Barbour A, Tuck M, McIntosh SD, Douglas JN, Nicolae D, Cavallari LH, Perera MA. Pharmacogenomics J. 2013 Sep 10. doi: 10.1038/tpj.2013.34. PMID: 24018621.

39. The Genotype-Tissue Expression (GTEx) Project. The GTEx Consortium. Nature Genetics. 2013. PMID: 23715323.

40. Gastric colonisation with a restricted commensal microbiota replicates the promotion of neoplastic lesions by diverse intestinal microbiota in the Helicobacter pylori INS-GAS mouse model of gastric carcinogenesis. Lertpiriyapong K, Whary MT, Muthupalani S, Lofgren JL, Gamazon ER, Feng Y, Ge Z, Wang TC, Fox JG. Gut. 2013. PMID: 23812323. Selected for F1000.

41. Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Perera MA, Cavallari LH, Limdi NA, Gamazon ER, Konkashbaev A, Daneshjou R, Pluzhnikov A, et al. Lancet. 2013. PMID: 23755828. Selected for F1000.

42. A genome-wide integrative study of microRNAs in human liver. Gamazon ER, Innocenti F, Wei R, Wang L, Zhang M, et al. BMC Genomics. 2013. PMID: 23758991.

43. (Book chapter) SCAN: a systems biology approach to pharmacogenomic discovery. Gamazon ER, et al. In “Pharmacogenomics, Methods and Protocols”. Humana Press Inc., Totowa, New Jersey, NJ, USA, 2nd edition.

44. Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients. Gamazon ER, Lamba J, Pounds S, Stark AL, Wheeler HE, Cao X, Im HK, Mitra AK, Rubnitz JE, Ribeiro RC, Raimondi S, Campana D, Crews KR, Wong SS, Welsh M, Hulur I, Gorsic L, Hartford CM, Zhang W, Cox NJ, Dolan ME. Blood. 2013 Mar 28. [Epub ahead of print]. PMID: 23538338.

45. Genome-wide discovery of genetic variants affecting tamoxifen sensitivity and their clinical and functional validation. Weng L, Ziliak D, Im HK, Gamazon ER, Philips S, Nguyen AT, Desta Z, Skaar TC; the Consortium on Breast Cancer Pharmacogenomics (COBRA), Flockhart DA, Huang RS. Annals of Oncology. 2013 Mar 18. [Epub ahead of print]. PMID: 23508821.

46. Fine-mapping of Breast Cancer Genome-wide Association Studies Loci in Women of African Ancestry Identifies Novel Susceptibility Markers. Zheng Y, Ogundiran TO, Falusi AG, Nathanson KL, John EM, Hennis AJ, Ambs S, Domchek SM, Rebbeck TR, Simon MS, Nemesure B, Wu SY, Leske MC, Odetunde A, Niu Q, Zhang J, Afolabi C, Gamazon ER, Cox NJ, Olopade CO, Olufunmilayo OI, Huo D. Carcinogenesis. 2013 Mar 8. [Epub ahead of print]. PMID: 23475944.

47. Trans-population Analysis of Genetic Mechanisms of Ethnic Disparities in Neuroblastoma Survival. Gamazon ER, Pinto N, Konkashbaev A, Im HK, Diskin SJ, et al. Journal of the National Cancer Institute. 2012 Dec 14. [Epub ahead of print]. PMID: 23243203. Featured in ‘Clinical Cancer Advances 2013: Annual Report on Progress Against Cancer From the American Society of Clinical Oncology’.

48. Integrative Genomics: Quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data. Gamazon ER, Huang RS, Dolan ME, Cox NJ, Im HK. Frontiers in Statistical Genetics and Methodology. 3:202. doi: 10.3389/fgene.2012.00202. PMID: 23755062.

533 49. Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. Lee Y, Li H, Li J, Rebman E, Achour I, Regan KE, Gamazon ER, Chen JL, Yang XH, Cox NJ, Lussier YA. Journal of the American Medical Informatics Association. 2013 Jan 25. PMID: 23355459.

50. Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of paclitaxel-induced sensory peripheral neuropathy. Wheeler HE, Gamazon ER, Wing C, Njiaju UO, Njoku C, et al. Clinical Cancer Research. 2012 Nov 30. PMID: 23204130.

51. An Exponential Combination Procedure for Set-Based Association Tests in Sequencing Studies. Chen LS, Hsu L, Gamazon ER, Cox NJ, Nicolae DL. American Journal of Human Genetics. 15 November 2012. PMID: 23159251.

52. Small Science: High Stakes. Gamazon ER. Science. 16 November 2012: 338 (6109), 883. PMID: 23161975.

53. Variants Affecting Exon Skipping Contribute to Complex Traits. Lee Y, Gamazon ER, Rebman E, Lee S, Dolan ME, et al. PLoS Genetics. Epub 2012 Oct 25. PMID: 23133393.

54. Genetic Risk Factors for Type 2 Diabetes: A Trans-Regulatory Genetic Architecture?. Elbein SC*, Gamazon ER*, Das SK, Rasouli N, Kern PA, et al. American Journal of Human Genetics. 2012 Sep 7;91(3):466-77. PMID: 22958899. *Contributed equally.

55. Response to Questioning the Limits of Genomic Privacy. Im HK, Gamazon ER, Nicolae DL, Cox NJ. American Journal of Human Genetics. 2012 Sep 7;91(3):579. PMID: 22958906.

56. Functional genetic screen of human diversity reveals that a methionine salvage enzyme regulates inflammatory cell death. Ko DC, Gamazon ER, Shukla KP, Pfuetzner RA, Whittington D, et al. Proceedings of the National Academy of Sciences. 2012 Aug 28;109(35):E2343-52. PMID: 22837397. Issue Highlight. PNAS Commentary.

57. Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits. Gamazon ER, Ziliak D, Im HK, LaCroix B, Park DS, et al. American Journal of Human Genetics. 2012 Jun 8;90(6):1046-63. PMID: 22658545. AJHG Editors’ Corner.

58. The regulatory effect of miRNAs is a heritable genetic trait in humans. Geeleher P, Huang SR, Gamazon ER, Golden A, Seoighe C. BMC Genomics. PMID: 23272639.

59. Clinical translation of cell-based pharmacogenomic discovery. Cox NJ, Gamazon ER, Wheeler HE, Dolan ME. Clinical Pharmacology and Therapeutics. 2012 Aug 22. PMID: 22910437.

60. Genome-wide association study of Tourette Syndrome. Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, et al. Molecular Psychiatry. 2012 Aug 14. PMID: 22889924. ScienceDaily.

61. Genome-wide Association Study of Obsessive-Compulsive Disorder. Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, et al. Molecular Psychiatry. 2012 Aug 14. PMID: 22889921. ScienceDaily.

62. Genome-wide approaches in pharmacogenomics: heritability estimation and pharmacoethnicity as primary challenges. Gamazon ER*, Perera M. Pharmacogenomics. 2012 Jul;13(10):1101-4. PMID: 22909197. *Corresponding author. Invited editorial.

63. Campylobacter jejuni Type VI Secretion System: Roles in Adaptation to Deoxycholic Acid, Host Cell Adherence, Invasion, and In Vivo Colonization. Lertpiriyapong K, Gamazon ER, Feng Y, Park DS, Pang J, et al. PLoS ONE. 2012;7(8):e42842. PMID: 22952616.

534 64. Mixed Effects Modeling of Proliferation Rates in Cell-Based Models: Consequence for Pharmacogenomics and Cancer. Im HK, Gamazon ER, Stark AL, Huang RS, Cox NJ, et al. PLoS Genetics. 2012 Feb;8(2):e1002525. PMID: 22346769.

65. Genetic variation that predicts platinum sensitivity reveals the role of miR-193b* in chemotherapeutic susceptibility. Ziliak D, Gamazon ER, Lacroix B, Kyung Im H, Wen Y, et al. Molecular Cancer Therapeutics. 2012 Aug 28. PMID: 22752226.

66. The limits of genome-wide methods for pharmacogenomic testing. Gamazon ER, Skol AD, Perera MA Pharmacogenetics and Genomics. 2012 Apr;22(4):261-72. PMID: 22344246.

67. On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy. Im HK, Gamazon ER, Nicolae DL, Cox NJ. American Journal of Human Genetics. 2012 Apr 6;90(4):591-8. PMID: 22463877.

68. Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci. Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, et al. Molecular Autism. 2012 May 16;3(1):3. PMID 22591576.

69. Genetic Susceptibility to Type 2 Diabetes and Breast Cancer Risk in Women of European and African Ancestry. Hou N, Zheng Y, Gamazon ER, Ogundiran TO, Adebamowo C, et al. Cancer Epidemiol Biomarkers Prev. 2012 Mar;21(3):552-6. PMID: 22237986.

70. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants. Gamazon ER, Badner JA, Cheng L, Zhang C, Zhang D, et al. Molecular Psychiatry. 2012 Jan 3. PMID: 22212596.

71. Whole-genome studies identify solute carrier transporters in cellular susceptibility to paclitaxel. Njiaju UO, Gamazon ER, Gorsic LK, Delaney SM, Wheeler HE, et al. Pharmacogenetics and Genomics. 2012 Jul;22(7):498-507. PMID: 22437668.

72. An eQTL-based method identifies CTTN and ZMAT3 as pemetrexed susceptibility markers. Wen Y*, Gamazon ER*, Bleibel WK, Wing C, Mi S, et al. Human Molecular Genetics. 2012 Apr 1;21(7):1470-80. PMID: 22171072. *Contributed equally.

73. Identification of novel germline polymorphisms governing capecitabine sensitivity. O’Donnell PH, Stark AL, Gamazon ER, Wheeler HE, McIlwee BE, et al. 2012 Aug 15;118(16):4063-73. Cancer.

74. The Missing Association: Sequencing-Based Discovery of Novel SNPs in VKORC1 and CYP2C9 that Affect Warfarin Dose in African Americans. Perera MA, Gamazon E, Cavallari LH, Patel SR, Poindexter S, et al. Clinical Pharmacology and Therapeutics. 2011 Mar;89(3):408-15. PMID: 21270790. Selected for F1000.

75. A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. Gamazon ER, Nicolae DL, Cox NJ. PLoS Genetics. 2011 Feb 3;7(2):e1001292. PMID: 21304891.

76. Comprehensive Evaluation of the Contribution of X Chromosome Genes to Platinum Sensitivity. Gamazon ER, Im HK, O’Donnell PH, Ziliak D, Stark AL, et al. Molecular Cancer Therapeutics. 2011 Mar;10(3):472-80. PMID: 21252287.

77. Germline Polymorphisms Discovered via a Cell-based Genome-wide Approach Predict Platinum Response in Head and Neck Cancers. Ziliak D, O’Donnell PH, Im HK, Gamazon ER, Chen P, et al. Translational Research. 2011 May;157(5):265-72. PMID: 21497773.

535 78. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. Innocenti F, Cooper GM, Stanaway IB, Gamazon ER, Smith JD, et al. PLoS Genetics. 2011 May;7(5):e1002078. PMID: 21637794.

79. Genome-Wide Association and Meta-Analysis in Populations from Starr County, Texas and Mexico City Identify Type 2 Diabetes Susceptibility Loci and Enrichment for eQTLs in Top Signals. Below JE, Gamazon ER, Morrison JV, Konkashbaev A, Pluzhnikov A, et al. Diabetologia. 2011 Aug;54(8):2047-55. PMID: 21647700.

80. Population differences in microRNA expression and biological implications. Huang RS, Gamazon ER, Ziliak D, Wen Y, Im HK, et al. RNA Biology. 2011 Jul 1;8(4):692-701. PMID: 21691150.

81. Copy number polymorphisms and anticancer pharmacogenomics. Gamazon ER, Huang RS, Dolan ME, Cox NJ. Genome Biology. 2011;12(5):R46. PMID: 21609475.

82. Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients. Huang RS, Johnatty SE, Gamazon ER, Im HK, Ziliak D, et al. Clinical Cancer Research. 2011 Aug 15;17(16):5490-500. PMID: 21705454.

83. Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans. Wheeler HE, Gorsic LK, Welsh M, Stark AL, Gamazon ER, et al. PLoS One. 2011;6(7):e21920. PMID: 21755009.

84. Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations. Wheeler HE, Gamazon ER, Stark AL, O’Donnell PH, Gorsic LK, et al. The Pharmacogenomics Journal. 2011 Aug 16. PMID: 21844884.

85. Exprtarget: an integrative approach to predicting human microRNA targets. Gamazon ER, Im HK, Duan S, Lussier YA, Cox NJ, et al. PLoS One. 2010 Oct 21;5(10):e13534. PMID: 20975837.

86. Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Gamazon ER, Huang RS, Cox NJ, Dolan ME. Proceedings of the National Academy of Sciences. 2010 May 18;107(20):9287-92. Epub 2010 May 4. PMID: 20442332.

87. Population differences in platinum toxicity as a means to identify novel genetic susceptibility variants. O’Donnell PH, Gamazon E, Zhang W, Stark AL, Kistner-Griffin EO, et al. Pharmacogenet Genomics. 2010 May;20(5):327-37. PMID: 20393316.

88. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, et al. PLoS Genetics. 2010 Apr 1;6(4):e1000888. PMID: 20369019.

89. PACdb: a database for cell-based pharmacogenomics. Gamazon ER, Duan S, Zhang W, Huang RS, Kistner EO, et al. Pharmacogenet Genomics. 2010 Apr;20(4):269-73. PMID: 20216476.

90. Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset. Gamazon ER, Zhang W, Dolan ME, Cox NJ. PLoS One. 2010 Feb 23;5(2):e9366. PMID: 20186275.

91. SCAN: SNP and copy number annotation. Gamazon ER, Zhang W, Konkashbaev A, Duan S, Kistner EO, et al. Bioinformatics. 2010 Jan 15;26(2):259-62. PMID: 19933162.

92. Biomolecular Systems of Disease Buried Across Multiple GWAS Unveiled by Information Theory and Ontology. Lee Y, Li J, Gamazon E, Chen JL, Tikhomirov A, et al. Proceedings of the 2010 AMIA Summit on Translational Bioinformatics.

93. A pharmacogene database enhanced by the 1000 Genomes Project. Gamazon ER, Zhang W, Huang RS, Dolan ME, Cox NJ. Pharmacogenet Genomics. 2009 Oct;19(10):829-32. PMID: 19745786.

536

SSelect Preprints

1. Gamazon, E.R. et al. The convergence of eQTL mapping, heritability estimation and polygenic modeling: emerging spectrum of risk variation in bipolar disorder. arXiv 1303.6227 (2013).

2. Gamazon, E.R. and Park, D.S. SNP-based heritability estimation: measurement noise, population stratification and stability. bioRxiv doi: 10.1101/040055 (2016).

3. Park, D.S., Eskin, I., Kang, E.Y., Gamazon, E.R., Eng, C., et al. An Ancestry Based Approach for Detecting Interactions. bioRxiv doi: 10.1101/036640 (2016).

4. Shah, K., Wheeler, H.E., Gamazon, E.R., Nicolae, D, et al. Genetic predictors of gene expression associated with risk of bipolar disorder. bioRxiv doi: 10.1101/043752 (2016).