Eric R. Gamazon, Ph.D.

Research Instructor

eric.gamazon@vanderbilt.edu

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Faculty Appointments
Research Instructor in Medicine
Education
Ph.D., University of Amsterdam, Amsterdam, NetherlandsM.S., University of Chicago, Chicago, IllinoisB.A., University of California, San Diego, California
Research Description
Dr Eric R. Gamazon and his team of collaborators develop and apply genomic and computational methods to investigate the genetic architecture of complex traits, including disease risk and drug response. He is interested in what can be learned from DNA sequence and multi-omics data about disease mechanism, therapeutic intervention, molecular evolution, and genome function. In recent highly interdisciplinary work, he is developing computational approaches to studying the structure, dynamics, and stability of biological molecules within Density Functional Theory (DFT), molecular dynamics, and coarse-grained modelling and using experimental data (e.g., from X-ray crystallography or NMR spectroscopy). Since 2010, he has published over 110 peer-reviewed publications in research areas with direct translational and public health relevance (neuropsychiatric traits, pharmacogenomics, cancer genetics) as well as in functional genomics and statistical genetics.

As co-chair of the GWAS Working Group (Genotype-Tissue Expression Consortium; 2012 - ), he is actively involved in an international effort to systematically dissect the effect of genetic variation on gene regulation in a comprehensive set of tissues and create a genomic resource to elucidate the molecular mechanisms underlying disease-associated regions of the human genome.

He has been a member of several other consortia, including the Type 2 Diabetes (T2D) Genetic Exploration by Next-generation Sequencing in Ethnic Samples (T2D-GENES) Consortium, the International Warfarin Pharmacogenetics Consortium – Genome Wide Association Studies (IWPC-GWAS), and the Pharmacogenomics of Anticancer Agents Research (PAAR) Group. Translationally, he is interested in addressing health disparities and incorporating genome-based information and environmental risk factors into effective diagnostics, therapy, and prognosis.

In 2018, he was elected to a Fellowship (Clare Hall) to advance his research and scholarship and mentor graduate students in the University of Cambridge. Fellows are chosen from across the disciplines, become Life Members of Clare Hall, Cambridge and are welcomed back any time to rejoin the intellectual life of the college. He has held visiting posts in the Department of Medicine, MRC Biostatistics Unit, and MRC Epidemiology Unit in the University of Cambridge, as well as at QIMR Berghofer Medical Research Institute in Brisbane, Queensland, Australia. He has mentored students and scientists at several institutions, including Northwestern University, The University of Chicago, and the University of Cambridge.

Awards and Recognition:

* Elected Fellow of Royal Society of Biology (FRSB) (2018)
* Fellowship, Clare Hall, University of Cambridge (2018)
* Fellow, Royal Society of Arts (FRSA) (2018)
* Gamazon ER et al, Nature Genetics, 2015 selected one of top three papers in “Methods for Genetic Discovery” in the “Translational Bioinformatics 2016: The Year in Review”
* Smemo S et al, Nature, 2014 selected one of top advances in functional genomics and translational biology for 2014 (American Heart Association Functional Genomics and Translational Biology Council)
* Robert C. Elston Award Best Paper Award (2014), International Genetic Epidemiology Society
* Alice W. Chandler Staff Service Recognition (2014), The University of Chicago
* Gamazon ER et al, Journal of the National Cancer Institute, 2013 selected in the annual assessment (“Clinical Cancer Advances 2013”) by the American Society of Clinical Oncology (ASCO) as one of “the advances in cancer research with the greatest potential to improve patient care and quality of life”
* Research featured in Genome Technology April 2012 issue highlighting advances in cancer research from previous year
* Cover story in Campus Technology (2007) on Data Mining
* PhD (cum laude), awarded with highest possible distinction in the Netherlands, University of Amsterdam
* University Fellowship, Department of Mathematics, The University of Chicago
Research Keywords
Functional Genomics, Pharmacogenomics, Cancer Biology, Statistical Genetics, Evolutionary Genomics, Computational Biology, Psychiatric Genomics, Genetic Epidemiology, Bioinformatics, Transcriptome, Molecular Dynamics, Density Functional Theory (DFT), Coarse-grained Models, Machine Learning
Publications
Samovski D, Dhule P, Pietka T, Jacome-Sosa M, Penrose E, Son NH, Flynn CR, Shoghi KI, Hyrc KL, Goldberg IJ, Gamazon ER, Abumrad NA. Regulation of Insulin Receptor Pathway and Glucose Metabolism by CD36 Signaling. Diabetes [print-electronic]. 2018 Jul; 67(7): 1272-84. PMID: 29748289, PII: db17-1226, DOI: 10.2337/db17-1226, ISSN: 1939-327X.

Marees AT, Hammerschlag AR, Bastarache L, de Kluiver H, Vorspan F, van den Brink W, Smit DJ, Denys D, Gamazon ER, Li-Gao R, Breetvelt EJ, de Groot MCH, Galesloot TE, Vermeulen SH, Poppelaars JL, Souverein PC, Keeman R, de Mutsert R, Noordam R, Rosendaal FR, Stringa N, Mook-Kanamori DO, Vaartjes I, Kiemeney LA, den Heijer M, van Schoor NM, Klungel OH, Maitland-Van der Zee AH, Schmidt MK, Polderman TJC, van der Leij AR, Posthuma D, Derks EM. Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use. Drug Alcohol Depend [print-electronic]. 2018 Jul 7/1/2018; 188: 94-101. PMID: 29758381, PII: S0376-8716(18)30226-6, DOI: 10.1016/j.drugalcdep.2018.03.026, ISSN: 1879-0046.

Gamazon ER, Segrè AV, van de Bunt M, Wen X, Xi HS, Hormozdiari F, Ongen H, Konkashbaev A, Derks EM, Aguet F, Quan J, , Nicolae DL, Eskin E, Kellis M, Getz G, McCarthy MI, Dermitzakis ET, Cox NJ, Ardlie KG. Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Nat. Genet [print-electronic]. 2018 Jun 6/28/2018; PMID: 29955180, PII: 10.1038/s41588-018-0154-4, DOI: 10.1038/s41588-018-0154-4, ISSN: 1546-1718.

Gamazon ER, Trendowski MR, Wen Y, Wing C, Delaney SM, Huh W, Wong S, Cox NJ, Dolan ME. Gene and MicroRNA Perturbations of Cellular Response to Pemetrexed Implicate Biological Networks and Enable Imputation of Response in Lung Adenocarcinoma. Sci Rep. 2018 Jan 1/15/2018; 8(1): 733. PMID: 29335598, PMCID: PMC5768793, PII: 10.1038/s41598-017-19004-3, DOI: 10.1038/s41598-017-19004-3, ISSN: 2045-2322.

Jason F, Fuchsberger C, Mahajan A, Teslovich TM, Agarwala V, Gaulton KJ, Caulkins L, Koesterer R, Ma C, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, 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 SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stancáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JC, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Mohlke KL, Meitinger T, Groop L, Abecasis G, Scott LJ, Morris AP, Kang HM, Altshuler D, Burtt NP, Florez JC, Boehnke M, McCarthy MI. Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci Data. 2017 Dec 12/19/2017; 4: 170179. PMID: 29257133, PII: sdata2017179, DOI: 10.1038/sdata.2017.179, ISSN: 2052-4463.

Park DS, Eskin I, Kang EY, Gamazon ER, Eng C, Gignoux CR, Galanter JM, Burchard E, Ye CJ, Aschard H, Eskin E, Halperin E, Zaitlen N. An ancestry-based approach for detecting interactions. Genet. Epidemiol [print-electronic]. 2017 Nov 11/8/2017; PMID: 29114909, DOI: 10.1002/gepi.22087, ISSN: 1098-2272.

Morselli LL, Gamazon ER, Tasali E, Cox NJ, Van Cauter E, Davis LK. Shared Genetic Control of Brain Activity During Sleep and Insulin Secretion: A Laboratory-Based Family Study. Diabetes [print-electronic]. 2017 Oct 10/30/2017; PMID: 29084784, PII: db16-1229, DOI: 10.2337/db16-1229, ISSN: 1939-327X.

, , , , , , , , , , , , , , , , , , , , , , , Battle A, Brown CD, Engelhardt BE, Montgomery SB. Genetic effects on gene expression across human tissues. Nature. 2017 Oct 10/11/2017; 550(7675): 204-13. PMID: 29022597, PII: nature24277, DOI: 10.1038/nature24277, ISSN: 1476-4687.

Li X, Kim Y, Tsang EK, Davis JR, Damani FN, Chiang C, Hess GT, Zappala Z, Strober BJ, Scott AJ, Li A, Ganna A, Bassik MC, Merker JD, , , , , , , , , , , , , , , , , , Hall IM, Battle A, Montgomery SB. The impact of rare variation on gene expression across tissues. Nature. 2017 Oct 10/11/2017; 550(7675): 239-43. PMID: 29022581, PII: nature24267, DOI: 10.1038/nature24267, ISSN: 1476-4687.

Tukiainen T, Villani AC, Yen A, Rivas MA, Marshall JL, Satija R, Aguirre M, Gauthier L, Fleharty M, Kirby A, Cummings BB, Castel SE, Karczewski KJ, Aguet F, Byrnes A, , , , , , , , , , , , , , , , , , Lappalainen T, Regev A, Ardlie KG, Hacohen N, MacArthur DG. Landscape of X chromosome inactivation across human tissues. Nature. 2017 Oct 10/11/2017; 550(7675): 244-8. PMID: 29022598, PII: nature24265, DOI: 10.1038/nature24265, ISSN: 1476-4687.

Tan MH, Li Q, Shanmugam R, Piskol R, Kohler J, Young AN, Liu KI, Zhang R, Ramaswami G, Ariyoshi K, Gupte A, Keegan LP, George CX, Ramu A, Huang N, Pollina EA, Leeman DS, Rustighi A, Goh YPS, , , , , , , , , , , , , , , , , , Chawla A, Del Sal G, Peltz G, Brunet A, Conrad DF, Samuel CE, O'Connell MA, Walkley CR, Nishikura K, Li JB. Dynamic landscape and regulation of RNA editing in mammals. Nature. 2017 Oct 10/11/2017; 550(7675): 249-54. PMID: 29022589, PII: nature24041, DOI: 10.1038/nature24041, ISSN: 1476-4687.

Dolan ME, El Charif O, Wheeler HE, Gamazon ER, Ardeshir-Rouhani-Fard S, Monahan P, Feldman DR, Hamilton RJ, Vaughn DJ, Beard CJ, Fung C, Kim J, Fossa SD, Hertz DL, Mushiroda T, Kubo M, Einhorn LH, Cox NJ, Travis LB, . Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer. Clin. Cancer Res [print-electronic]. 2017 Oct 10/1/2017; 23(19): 5757-68. PMID: 28611204, PMCID: PMC5626588, PII: 1078-0432.CCR-16-3224, DOI: 10.1158/1078-0432.CCR-16-3224, ISSN: 1078-0432.

Gamazon ER, Konkashbaev A, Derks EM, Cox NJ, Lee Y. Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping. Sci Rep. 2017 Jul 7/20/2017; 7(1): 5980. PMID: 28729732, PMCID: PMC5519721, PII: 10.1038/s41598-017-05744-9, DOI: 10.1038/s41598-017-05744-9, ISSN: 2045-2322.

Manning A, Highland HM, Gasser J, Sim X, Tukiainen T, Fontanillas P, Grarup N, Rivas MA, Mahajan A, Locke AE, Cingolani P, Pers TH, Viñuela A, Brown AA, Wu Y, Flannick J, Fuchsberger C, Gamazon ER, Gaulton KJ, Im HK, Teslovich TM, Blackwell TW, Bork-Jensen J, Burtt NP, Chen Y, Green T, Hartl C, Kang HM, Kumar A, Ladenvall C, Ma C, Moutsianas L, Pearson RD, Perry JRB, Rayner NW, Robertson NR, Scott LJ, van de Bunt M, Eriksson JG, Jula A, Koskinen S, Lehtimäki T, Palotie A, Raitakari OT, Jacobs SBR, Wessel J, Chu AY, Scott RA, Goodarzi MO, Blancher C, Buck G, Buck D, Chines PS, Gabriel S, Gjesing AP, Groves CJ, Hollensted M, Huyghe JR, Jackson AU, Jun G, Justesen JM, Mangino M, Murphy J, Neville M, Onofrio R, Small KS, Stringham HM, Trakalo J, Banks E, Carey J, Carneiro MO, DePristo M, Farjoun Y, Fennell T, Goldstein JI, Grant G, Hrabé de Angelis M, Maguire J, Neale BM, Poplin R, Purcell S, Schwarzmayr T, Shakir K, Smith JD, Strom TM, Wieland T, Lindstrom J, Brandslund I, Christensen C, Surdulescu GL, Lakka TA, Doney ASF, Nilsson P, Wareham NJ, Langenberg C, Varga TV, Franks PW, Rolandsson O, Rosengren AH, Farook VS, Thameem F, Puppala S, Kumar S, Lehman DM, Jenkinson CP, Curran JE, Hale DE, Fowler SP, Arya R, DeFronzo RA, Abboud HE, Syvänen AC, Hicks PJ, Palmer ND, Ng MCY, Bowden DW, Freedman BI, Esko T, Mägi R, Milani L, Mihailov E, Metspalu A, Narisu N, Kinnunen L, Bonnycastle LL, Swift A, Pasko D, Wood AR, Fadista J, Pollin TI, Barzilai N, Atzmon G, Glaser B, Thorand B, Strauch K, Peters A, Roden M, Müller-Nurasyid M, Liang L, Kriebel J, Illig T, Grallert H, Gieger C, Meisinger C, Lannfelt L, Musani SK, Griswold M, Taylor HA, Wilson G, Correa A, Oksa H, Scott WR, Afzal U, Tan ST, Loh M, Chambers JC, Sehmi J, Kooner JS, Lehne B, Cho YS, Lee JY, Han BG, Käräjämäki A, Qi Q, Qi L, Huang J, Hu FB, Melander O, Orho-Melander M, Below JE, Aguilar D, Wong TY, Liu J, Khor CC, Chia KS, Lim WY, Cheng CY, Chan E, Tai ES, Aung T, Linneberg A, Isomaa B, Meitinger T, Tuomi T, Hakaste L, Kravic J, Jørgensen ME, Lauritzen T, Deloukas P, Stirrups KE, Owen KR, Farmer AJ, Frayling TM, O'Rahilly SP, Walker M, Levy JC, Hodgkiss D, Hattersley AT, Kuulasmaa T, Stancáková A, Barroso I, Bharadwaj D, Chan J, Chandak GR, Daly MJ, Donnelly PJ, Ebrahim SB, Elliott P, Fingerlin T, Froguel P, Hu C, Jia W, Ma RCW, McVean G, Park T, Prabhakaran D, Sandhu M, Scott J, Sladek R, Tandon N, Teo YY, Zeggini E, Watanabe RM, Koistinen HA, Kesaniemi YA, Uusitupa M, Spector TD, Salomaa V, Rauramaa R, Palmer CNA, Prokopenko I, Morris AD, Bergman RN, Collins FS, Lind L, Ingelsson E, Tuomilehto J, Karpe F, Groop L, Jørgensen T, Hansen T, Pedersen O, Kuusisto J, Abecasis G, Bell GI, Blangero J, Cox NJ, Duggirala R, Seielstad M, Wilson JG, Dupuis J, Ripatti S, Hanis CL, Florez JC, Mohlke KL, Meigs JB, Laakso M, Morris AP, Boehnke M, Altshuler D, McCarthy MI, Gloyn AL, Lindgren CM. A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Diabetes [print-electronic]. 2017 Jul; 66(7): 2019-32. PMID: 28341696, PMCID: PMC5482074, PII: db16-1329, DOI: 10.2337/db16-1329, ISSN: 1939-327X.

Wheeler HE, Gamazon ER, Frisina RD, Perez-Cervantes C, El Charif O, Mapes B, Fossa SD, Feldman DR, Hamilton RJ, Vaughn DJ, Beard CJ, Fung C, Kollmannsberger C, Kim J, Mushiroda T, Kubo M, Ardeshir-Rouhani-Fard S, Einhorn LH, Cox NJ, Dolan ME, Travis LB. Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. Clin. Cancer Res [print-electronic]. 2017 Jul 7/1/2017; 23(13): 3325-33. PMID: 28039263, PMCID: PMC5493516, PII: 1078-0432.CCR-16-2809, DOI: 10.1158/1078-0432.CCR-16-2809, ISSN: 1078-0432.

Huo D, Hu H, Rhie SK, Gamazon ER, Cherniack AD, Liu J, Yoshimatsu TF, Pitt JJ, Hoadley KA, Troester M, Ru Y, Lichtenberg T, Sturtz LA, Shelley CS, Benz CC, Mills GB, Laird PW, Shriver CD, Perou CM, Olopade OI. Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas. JAMA Oncol [print-electronic]. 2017 May 5/4/2017; PMID: 28472234, PII: 2624532, DOI: 10.1001/jamaoncol.2017.0595, ISSN: 2374-2445.

Derks EM, Zwinderman AH, Gamazon ER. The Relation Between Inflation in Type-I and Type-II Error Rate and Population Divergence in Genome-Wide Association Analysis of Multi-Ethnic Populations. Behav. Genet [print-electronic]. 2017 May; 47(3): 360-8. PMID: 28185111, PMCID: PMC5403879, PII: 10.1007/s10519-017-9837-3, DOI: 10.1007/s10519-017-9837-3, ISSN: 1573-3297.

Hernandez W, Gamazon ER, Aquino-Michaels K, Smithberger E, O'Brien TJ, Harralson AF, Tuck M, Barbour A, Cavallari LH, Perera MA. Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans. J. Thromb. Haemost [print-electronic]. 2017 Apr; 15(4): 735-43. PMID: 28135054, DOI: 10.1111/jth.13639, ISSN: 1538-7836.

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. Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Pharmacogenomics J [print-electronic]. 2017 Mar; 17(2): 137-45. PMID: 26856248, PMCID: PMC4980276, PII: tpj201593, DOI: 10.1038/tpj.2015.93, ISSN: 1473-1150.

Hulur I, Skol AD, Gamazon ER, Cox NJ, Onel K. Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma. PLoS ONE. 2017; 12(10): e0185730. PMID: 28973033, PMCID: PMC5626488, PII: PONE-D-17-26064, DOI: 10.1371/journal.pone.0185730, ISSN: 1932-6203.

Wei WQ, Bastarache LA, Carroll RJ, Marlo JE, Osterman TJ, Gamazon ER, Cox NJ, Roden DM, Denny JC. Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. PLoS ONE. 2017; 12(7): e0175508. PMID: 28686612, PMCID: PMC5501393, PII: PONE-D-16-36822, DOI: 10.1371/journal.pone.0175508, ISSN: 1932-6203.

Chamessian A, Van de Ven T, Buchheit T, Hsia HL, McDuffie M, Gamazon ER, Walsh C, Bruehl S, Buckenmaier C', Shaw A. Differential expression of systemic inflammatory mediators in amputees with chronic residual limb pain. Pain. 2017 Jan; 158(1): 68-74. PMID: 27682210, PMCID: PMC5161626, DOI: 10.1097/j.pain.0000000000000728, ISSN: 1872-6623.

Hillenmeyer S, Davis LK, Gamazon ER, Cook EH, Cox NJ, Altman RB. STAMS: STRING-assisted module search for genome wide association studies and application to autism. Bioinformatics [print-electronic]. 2016 Dec 12/15/2016; 32(24): 3815-22. PMID: 27542772, PMCID: PMC5167061, PII: btw530, DOI: 10.1093/bioinformatics/btw530, ISSN: 1367-4811.

Geeleher P, Gamazon ER, Seoighe C, Cox NJ, Huang RS. Consistency in large pharmacogenomic studies. Nature. 2016 Nov 11/30/2016; 540(7631): E1-E2. PMID: 27905415, PII: nature19838, DOI: 10.1038/nature19838, ISSN: 1476-4687.

Huo D, Feng Y, Haddad S, Zheng Y, Yao S, Han YJ, Ogundiran TO, Adebamowo C, Ojengbede O, Falusi AG, Zheng W, Blot W, Cai Q, Signorello L, John EM, Bernstein L, Hu JJ, Ziegler RG, Nyante S, Bandera EV, Ingles SA, Press MF, Deming SL, Rodriguez-Gil JL, Nathanson KL, Domchek SM, Rebbeck TR, Ruiz-Narváez EA, Sucheston-Campbell LE, Bensen JT, Simon MS, Hennis A, Nemesure B, Leske MC, Ambs S, Chen LS, Qian F, Gamazon ER, Lunetta KL, Cox NJ, Chanock SJ, Kolonel LN, Olshan AF, Ambrosone CB, Olopade OI, Palmer JR, Haiman CA. Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer. Hum. Mol. Genet. 2016 Nov 11/1/2016; 25(21): 4835-46. PMID: 28171663, PII: 2525910, DOI: 10.1093/hmg/ddw305, ISSN: 1460-2083.

Liu W, Anstee QM, Wang X, Gawrieh S, Gamazon ER, Athinarayanan S, Liu YL, Darlay R, Cordell HJ, Daly AK, Day CP, Chalasani N. Transcriptional regulation of PNPLA3 and its impact on susceptibility to nonalcoholic fatty liver Disease (NAFLD) in humans. Aging (Albany NY). 2016 Oct 10/13/2016; 9(1): 26-40. PMID: 27744419, PMCID: PMC5310654, PII: 101067, DOI: 10.18632/aging.101067, ISSN: 1945-4589.

The genetic architecture of neuropsychiatric traits: mechanism, polygenicity, and genome function. Amsterdam (Netherlands): University of Amsterdam; 2016 Oct 10/12/2016.536 p. ISBN-13: 978-94-028-0300-6.. Available from: https://literatuurplein.nl/boekdetail.jsp?boekId=1136939.

Chang SW, McDonough CW, Gong Y, Johnson TA, Tsunoda T, Gamazon ER, Perera MA, Takahashi A, Tanaka T, Kubo M, Pepine CJ, Johnson JA, Cooper-DeHoff RM. Genome-wide association study identifies pharmacogenomic loci linked with specific antihypertensive drug treatment and new-onset diabetes. Pharmacogenomics J [print-electronic]. 2016 Sep 9/27/2016; PMID: 27670767, PMCID: PMC5368017, PII: tpj201667, DOI: 10.1038/tpj.2016.67, ISSN: 1473-1150.

Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JRB, 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 SCJ, Varga TV, Green T, Beer NL, Day-Williams AG, Ferreira T, Fingerlin T, Horikoshi M, Hu C, Huh I, Ikram MK, Kim BJ, Kim Y, Kim YJ, Kwon MS, Lee J, Lee S, Lin KH, Maxwell TJ, Nagai Y, Wang X, Welch RP, Yoon J, Zhang W, Barzilai N, Voight BF, Han BG, Jenkinson CP, Kuulasmaa T, Kuusisto J, Manning A, Ng MCY, Palmer ND, Balkau B, Stancáková A, Abboud HE, Boeing H, Giedraitis V, Prabhakaran D, Gottesman O, Scott J, Carey J, Kwan P, Grant G, Smith JD, Neale BM, Purcell S, Butterworth AS, Howson JMM, Lee HM, Lu Y, Kwak SH, Zhao W, Danesh J, Lam VKL, Park KS, Saleheen D, So WY, Tam CHT, Afzal U, Aguilar D, Arya R, Aung T, Chan E, Navarro C, Cheng CY, Palli D, Correa A, Curran JE, Rybin D, Farook VS, Fowler SP, Freedman BI, Griswold M, Hale DE, Hicks PJ, Khor CC, Kumar S, Lehne B, Thuillier D, Lim WY, Liu J, van der Schouw YT, Loh M, Musani SK, Puppala S, Scott WR, Yengo L, Tan ST, Taylor HA, Thameem F, Wilson G, Wong TY, Njølstad PR, Levy JC, Mangino M, Bonnycastle LL, Schwarzmayr T, Fadista J, Surdulescu GL, Herder C, Groves CJ, Wieland T, Bork-Jensen J, Brandslund I, Christensen C, Koistinen HA, Doney ASF, Kinnunen L, Esko T, Farmer AJ, Hakaste L, Hodgkiss D, Kravic J, Lyssenko V, Hollensted M, Jørgensen ME, Jørgensen T, Ladenvall C, Justesen JM, Käräjämäki A, Kriebel J, Rathmann W, Lannfelt L, Lauritzen T, Narisu N, Linneberg A, Melander O, Milani L, Neville M, Orho-Melander M, Qi L, Qi Q, Roden M, Rolandsson O, Swift A, Rosengren AH, Stirrups K, Wood AR, Mihailov E, Blancher C, Carneiro MO, Maguire J, Poplin R, Shakir K, Fennell T, DePristo M, de Angelis MH, Deloukas P, Gjesing AP, Jun G, Nilsson P, Murphy J, Onofrio R, Thorand B, Hansen T, Meisinger C, Hu FB, Isomaa B, Karpe F, Liang L, Peters A, Huth C, O'Rahilly SP, Palmer CNA, Pedersen O, Rauramaa R, Tuomilehto J, Salomaa V, Watanabe RM, Syvänen AC, Bergman RN, Bharadwaj D, Bottinger EP, Cho YS, Chandak GR, Chan JCN, Chia KS, Daly MJ, Ebrahim SB, Langenberg C, Elliott P, Jablonski KA, Lehman DM, Jia W, Ma RCW, Pollin TI, Sandhu M, Tandon N, Froguel P, Barroso I, Teo YY, Zeggini E, Loos RJF, Small KS, Ried JS, DeFronzo RA, Grallert H, Glaser B, Metspalu A, Wareham NJ, Walker M, Banks E, Gieger C, Ingelsson E, Im HK, Illig T, Franks PW, Buck G, Trakalo J, Buck D, Prokopenko I, Mägi R, Lind L, Farjoun Y, Owen KR, Gloyn AL, Strauch K, Tuomi T, Kooner JS, Lee JY, Park T, Donnelly P, Morris AD, Hattersley AT, Bowden DW, Collins FS, Atzmon G, Chambers JC, Spector TD, Laakso M, Strom TM, Bell GI, Blangero J, Duggirala R, Tai ES, McVean G, Hanis CL, Wilson JG, Seielstad M, Frayling TM, Meigs JB, Cox NJ, Sladek R, Lander ES, Gabriel S, Burtt NP, Mohlke KL, Meitinger T, Groop L, Abecasis G, Florez JC, Scott LJ, Morris AP, Kang HM, Boehnke M, Altshuler D, McCarthy MI. The genetic architecture of type 2 diabetes. Nature [print-electronic]. 2016 Aug 8/4/2016; 536(7614): 41-7. PMID: 27398621, PMCID: PMC5034897, DOI: 10.1038/nature18642, ISSN: 1476-4687.

Hernandez W, Gamazon ER, Smithberger E, O'Brien TJ, Harralson AF, Tuck M, Barbour A, Kittles RA, Cavallari LH, Perera MA. Novel genetic predictors of venous thromboembolism risk in African Americans. Blood [print-electronic]. 2016 Apr 4/14/2016; 127(15): 1923-9. PMID: 26888256, PMCID: PMC4832509, PII: blood-2015-09-668525, DOI: 10.1182/blood-2015-09-668525, ISSN: 1528-0020.

Wang J, Gamazon ER, Pierce BL, Stranger BE, Im HK, Gibbons RD, Cox NJ, Nicolae DL, Chen LS. Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx. Am. J. Hum. Genet [print-electronic]. 2016 Apr 4/7/2016; 98(4): 697-708. PMID: 27040689, PMCID: PMC4833292, PII: S0002-9297(16)00071-9, DOI: 10.1016/j.ajhg.2016.02.020, ISSN: 1537-6605.

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. A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Nat Commun. 2016 Feb 2/12/2016; 7: 10635. PMID: 26868379, PMCID: PMC4754340, PII: ncomms10635, DOI: 10.1038/ncomms10635, ISSN: 2041-1723.

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. Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. Sci Rep. 2016 Jan 1/19/2016; 6: 19429. PMID: 26780889, PMCID: PMC4726092, PII: srep19429, DOI: 10.1038/srep19429, ISSN: 2045-2322.

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. Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group [letter]. Leukemia [print-electronic]. 2015 Dec; 29(12): 2424-6. PMID: 26126966, PMCID: PMC4675677, PII: leu2015171, DOI: 10.1038/leu.2015.171, ISSN: 1476-5551.

Gamazon ER, Wheeler HE, Shah KP, Mozaffari SV, Aquino-Michaels K, Carroll RJ, Eyler AE, Denny JC, , Nicolae DL, Cox NJ, Im HK. A gene-based association method for mapping traits using reference transcriptome data. Nat. Genet [print-electronic]. 2015 Sep; 47(9): 1091-8. PMID: 26258848, PMCID: PMC4552594, PII: ng.3367, DOI: 10.1038/ng.3367, ISSN: 1546-1718.

Gamazon ER, Stranger BE. The impact of human copy number variation on gene expression. Brief Funct Genomics [print-electronic]. 2015 Sep; 14(5): 352-7. PMID: 25922366, PMCID: PMC4592354, PII: elv017, DOI: 10.1093/bfgp/elv017, ISSN: 2041-2657.

Lenkala D, Gamazon ER, LaCroix B, Im HK, Huang RS. MicroRNA biogenesis and cellular proliferation. Transl Res [print-electronic]. 2015 Aug; 166(2): 145-51. PMID: 25724890, PMCID: PMC4509805, PII: S1931-5244(15)00039-0, DOI: 10.1016/j.trsl.2015.01.012, ISSN: 1878-1810.

Evans PD, Mueller KL, Gamazon ER, Cox NJ, Tomblin JB. A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13. Genes Brain Behav. 2015 Jun; 14(5): 387-97. PMID: 25997078, PMCID: PMC4755290, DOI: 10.1111/gbb.12223, ISSN: 1601-183X.

. Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science [print-electronic]. 2015 May 5/8/2015; 348(6235): 648-60. PMID: 25954001, PMCID: PMC4547484, PII: 348/6235/648, DOI: 10.1126/science.1262110, ISSN: 1095-9203.

Hulur I, Gamazon ER, Skol AD, Xicola RM, Llor X, Onel K, Ellis NA, Kupfer SS. Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. BMC Genomics. 2015 Feb 2/27/2015; 16: 138. PMID: 25766683, PMCID: PMC4351699, PII: s12864-015-1292-z, DOI: 10.1186/s12864-015-1292-z, ISSN: 1471-2164.

Maitland ML, Xu CF, Cheng YC, Kistner-Griffin E, Ryan KA, Karrison TG, Das S, Torgerson D, Gamazon ER, Thomeas V, Levine MR, Wilson PA, Bing N, Liu Y, Cardon LR, Pandite LN, O'Connell JR, Cox NJ, Mitchell BD, Ratain MJ, Shuldiner AR. Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of Pazopanib. Clin. Cancer Res [print-electronic]. 2015 Jan 1/15/2015; 21(2): 365-72. PMID: 25411163, PMCID: PMC4323272, PII: 1078-0432.CCR-14-1683, DOI: 10.1158/1078-0432.CCR-14-1683, ISSN: 1078-0432.

Zhang W, Gamazon ER, Zhang X, Konkashbaev A, Liu C, Szilágyi KL, Dolan ME, Cox NJ. SCAN database: facilitating integrative analyses of cytosine modification and expression QTL. Database (Oxford) [electronic-print]. 2015; 2015: PMID: 25818895, PMCID: PMC4375357, PII: bav025, DOI: 10.1093/database/bav025, ISSN: 1758-0463.

Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, Crane J, Fagerness JA, Osiecki L, Gallagher P, Gerber G, Haddad S, Illmann C, McGrath LM, Mayerfeld C, Arepalli S, Barlassina C, Barr CL, Bellodi L, Benarroch F, Berrió GB, Bienvenu OJ, Black DW, Bloch MH, Brentani H, Bruun RD, Budman CL, Camarena B, Campbell DD, Cappi C, Silgado JC, Cavallini MC, Chavira DA, Chouinard S, Cook EH, Cookson MR, Coric V, Cullen B, Cusi D, Delorme R, Denys D, Dion Y, Eapen V, Egberts K, Falkai P, Fernandez T, Fournier E, Garrido H, Geller D, Gilbert DL, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Grünblatt E, Hardy J, Heiman GA, Hemmings SM, Herrera LD, Hezel DM, Hoekstra PJ, Jankovic J, Kennedy JL, King RA, Konkashbaev AI, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Lupoli S, Macciardi F, Maier W, Manunta P, Marconi M, McCracken JT, Mesa Restrepo SC, Moessner R, Moorjani P, Morgan J, Muller H, Murphy DL, Naarden AL, Nurmi E, Ochoa WC, Ophoff RA, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner T, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosário MC, Rosenberg D, Ruhrmann S, Sabatti C, Salvi E, Sampaio AS, Samuels J, Sandor P, Service SK, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Turiel M, Valencia Duarte AV, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Weale M, Weiss R, Wendland JR, Westenberg HG, Shugart YY, Hounie AG, Miguel EC, Nicolini H, Wagner M, Ruiz-Linares A, Cath DC, McMahon W, Posthuma D, Oostra BA, Nestadt G, Rouleau GA, Purcell S, Jenike MA, Heutink P, Hanna GL, Conti DV, Arnold PD, Freimer NB, Stewart SE, Knowles JA, Cox NJ, Pauls DL. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Am J Psychiatry [print-electronic]. 2015 Jan; 172(1): 82-93. PMID: 25158072, PMCID: PMC4282594, PII: 1900626, DOI: 10.1176/appi.ajp.2014.13101306, ISSN: 1535-7228.

Zhang X, Moen EL, Liu C, Mu W, Gamazon ER, Delaney SM, Wing C, Godley LA, Dolan ME, Zhang W. Linking the genetic architecture of cytosine modifications with human complex traits. Hum. Mol. Genet [print-electronic]. 2014 Nov 11/15/2014; 23(22): 5893-905. PMID: 24943591, PMCID: PMC4204771, PII: ddu313, DOI: 10.1093/hmg/ddu313, ISSN: 1460-2083.

Torres JM, Gamazon ER, Parra EJ, Below JE, Valladares-Salgado A, Wacher N, Cruz M, Hanis CL, Cox NJ. Cross-tissue and tissue-specific eQTLs: partitioning the heritability of a complex trait. Am. J. Hum. Genet [print-electronic]. 2014 Nov 11/6/2014; 95(5): 521-34. PMID: 25439722, PMCID: PMC4225593, PII: S0002-9297(14)00423-6, DOI: 10.1016/j.ajhg.2014.10.001, ISSN: 1537-6605.

Gamazon ER, Cox NJ, Davis LK. Structural architecture of SNP effects on complex traits. Am. J. Hum. Genet [print-electronic]. 2014 Nov 11/6/2014; 95(5): 477-89. PMID: 25307299, PMCID: PMC4225594, PII: S0002-9297(14)00392-9, DOI: 10.1016/j.ajhg.2014.09.009, ISSN: 1537-6605.

Liu W, Ramírez J, Gamazon ER, Mirkov S, Chen P, Wu K, Sun C, Cox NJ, Cook E, Das S, Ratain MJ. Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver. Hum. Mol. Genet [print-electronic]. 2014 Oct 10/15/2014; 23(20): 5558-69. PMID: 24879639, PMCID: PMC4168829, PII: ddu268, DOI: 10.1093/hmg/ddu268, ISSN: 1460-2083.

Daneshjou R, Gamazon ER, Burkley B, Cavallari LH, Johnson JA, Klein TE, Limdi N, Hillenmeyer S, Percha B, Karczewski KJ, Langaee T, Patel SR, Bustamante CD, Altman RB, Perera MA. Genetic variant in folate homeostasis is associated with lower warfarin dose in African Americans. Blood [print-electronic]. 2014 Oct 10/2/2014; 124(14): 2298-305. PMID: 25079360, PMCID: PMC4183989, PII: blood-2014-04-568436, DOI: 10.1182/blood-2014-04-568436, ISSN: 1528-0020.

Wu K, Gamazon ER, Im HK, Geeleher P, White SR, Solway J, Clemmer GL, Weiss ST, Tantisira KG, Cox NJ, Ratain MJ, Huang RS. Genome-wide interrogation of longitudinal FEV1 in children with asthma. Am. J. Respir. Crit. Care Med. 2014 Sep 9/15/2014; 190(6): 619-27. PMID: 25221879, PMCID: PMC4214107, DOI: 10.1164/rccm.201403-0460OC, ISSN: 1535-4970.

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 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. Genetic association signal near NTN4 in Tourette syndrome. Ann. Neurol [print-electronic]. 2014 Aug; 76(2): 310-5. PMID: 25042818, PMCID: PMC4140987, DOI: 10.1002/ana.24215, ISSN: 1531-8249.

Wheeler HE, Aquino-Michaels K, Gamazon ER, Trubetskoy VV, Dolan ME, Huang RS, Cox NJ, Im HK. Poly-omic prediction of complex traits: OmicKriging. Genet. Epidemiol [print-electronic]. 2014 Jul; 38(5): 402-15. PMID: 24799323, PMCID: PMC4072756, DOI: 10.1002/gepi.21808, ISSN: 1098-2272.

Lenkala D, LaCroix B, Gamazon ER, Geeleher P, Im HK, Huang RS. The impact of microRNA expression on cellular proliferation. Hum. Genet [print-electronic]. 2014 Jul; 133(7): 931-8. PMID: 24609542, PMCID: PMC4677487, DOI: 10.1007/s00439-014-1434-4, ISSN: 1432-1203.

Pinto N, Gamazon ER, Antao N, Myers J, Stark AL, Konkashbaev A, Im HK, Diskin SJ, London WB, Ludeman SM, Maris JM, Cox NJ, Cohn SL, Dolan ME. Integrating cell-based and clinical genome-wide studies to identify genetic variants contributing to treatment failure in neuroblastoma patients. Clin. Pharmacol. Ther [print-electronic]. 2014 Jun; 95(6): 644-52. PMID: 24549002, PMCID: PMC4029857, PII: clpt201437, DOI: 10.1038/clpt.2014.37, ISSN: 1532-6535.

Gamazon ER, Stranger BE. Genomics of alternative splicing: evolution, development and pathophysiology. Hum. Genet [print-electronic]. 2014 Jun; 133(6): 679-87. PMID: 24378600, DOI: 10.1007/s00439-013-1411-3, ISSN: 1432-1203.

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. Ethnicity-specific pharmacogenetics: the case of warfarin in African Americans. Pharmacogenomics J [print-electronic]. 2014 Jun; 14(3): 223-8. PMID: 24018621, PMCID: PMC4016191, PII: tpj201334, DOI: 10.1038/tpj.2013.34, ISSN: 1473-1150.

Hart AB, Gamazon ER, Engelhardt BE, Sklar P, Kähler AK, Hultman CM, Sullivan PF, Neale BM, Faraone SV, , de Wit H, Cox NJ, Palmer AA. Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. Proc. Natl. Acad. Sci. U.S.A [print-electronic]. 2014 Apr 4/22/2014; 111(16): 5968-73. PMID: 24711425, PMCID: PMC4000861, PII: 1318810111, DOI: 10.1073/pnas.1318810111, ISSN: 1091-6490.

LaCroix B, Gamazon ER, Lenkala D, Im HK, Geeleher P, Ziliak D, Cox NJ, Huang RS. Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity. BMC Genomics. 2014 Apr 4/16/2014; 15: 292. PMID: 24739237, PMCID: PMC3996490, PII: 1471-2164-15-292, DOI: 10.1186/1471-2164-15-292, ISSN: 1471-2164.

Ahsan H, Halpern J, Kibriya MG, Pierce BL, Tong L, Gamazon E, McGuire V, Felberg A, Shi J, Jasmine F, Roy S, Brutus R, Argos M, Melkonian S, Chang-Claude J, Andrulis I, Hopper JL, John EM, Malone K, Ursin G, Gammon MD, Thomas DC, Seminara D, Casey G, Knight JA, Southey MC, Giles GG, Santella RM, Lee E, Conti D, Duggan D, Gallinger S, Haile R, Jenkins M, Lindor NM, Newcomb P, Michailidou K, Apicella C, Park DJ, Peto J, Fletcher O, dos Santos Silva I, Lathrop M, Hunter DJ, Chanock SJ, Meindl A, Schmutzler RK, Müller-Myhsok B, Lochmann M, Beckmann L, Hein R, Makalic E, Schmidt DF, Bui QM, Stone J, Flesch-Janys D, Dahmen N, Nevanlinna H, Aittomäki K, Blomqvist C, Hall P, Czene K, Irwanto A, Liu J, Rahman N, Turnbull C, , Dunning AM, Pharoah P, Waisfisz Q, Meijers-Heijboer H, Uitterlinden AG, Rivadeneira F, Nicolae D, Easton DF, Cox NJ, Whittemore AS. 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. Cancer Epidemiol. Biomarkers Prev [print-electronic]. 2014 Apr; 23(4): 658-69. PMID: 24493630, PMCID: PMC3990360, PII: 1055-9965.EPI-13-0340, DOI: 10.1158/1055-9965.EPI-13-0340, ISSN: 1538-7755.

Smemo S, Tena JJ, Kim KH, Gamazon ER, Sakabe NJ, Gómez-Marín C, Aneas I, Credidio FL, Sobreira DR, Wasserman NF, Lee JH, Puviindran V, Tam D, Shen M, Son JE, Vakili NA, Sung HK, Naranjo S, Acemel RD, Manzanares M, Nagy A, Cox NJ, Hui CC, Gomez-Skarmeta JL, Nóbrega MA. Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature [print-electronic]. 2014 Mar 3/20/2014; 507(7492): 371-5. PMID: 24646999, PMCID: PMC4113484, PII: nature13138, DOI: 10.1038/nature13138, ISSN: 1476-4687.

Ramírez 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. A pharmacogenetic study of aldehyde oxidase I in patients treated with XK469. Pharmacogenet. Genomics. 2014 Feb; 24(2): 129-32. PMID: 24300566, PMCID: PMC3901533, DOI: 10.1097/FPC.0000000000000023, ISSN: 1744-6880.

Paré-Brunet L, Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F. Discovery and functional assessment of gene variants in the vascular endothelial growth factor pathway. Hum. Mutat [print-electronic]. 2014 Feb; 35(2): 227-35. PMID: 24186849, PMCID: PMC3935516, DOI: 10.1002/humu.22475, ISSN: 1098-1004.

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. Cytotoxic and pathogenic properties of Klebsiella oxytoca isolated from laboratory animals. PLoS ONE. 2014; 9(7): e100542. PMID: 25057966, PMCID: PMC4109914, PII: PONE-D-14-04854, DOI: 10.1371/journal.pone.0100542, ISSN: 1932-6203.

Lertpiriyapong K, Whary MT, Muthupalani S, Lofgren JL, Gamazon ER, Feng Y, Ge Z, Wang TC, Fox JG. 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. Gut [print-electronic]. 2014 Jan; 63(1): 54-63. PMID: 23812323, PMCID: PMC4023484, PII: gutjnl-2013-305178, DOI: 10.1136/gutjnl-2013-305178, ISSN: 1468-3288.

Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Cardona Silgado JC, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Mesa Restrepo SC, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Valencia Duarte AV, Vallada H, Van Nieuwerburgh F, Veenstra-Vanderweele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet [print-electronic]. 2013 Oct; 9(10): e1003864. PMID: 24204291, PMCID: PMC3812053, PII: PGENETICS-D-13-00870, DOI: 10.1371/journal.pgen.1003864, ISSN: 1553-7404.

Perera MA, Cavallari LH, Limdi NA, Gamazon ER, Konkashbaev A, Daneshjou R, Pluzhnikov A, Crawford DC, Wang J, Liu N, Tatonetti N, Bourgeois S, Takahashi H, Bradford Y, Burkley BM, Desnick RJ, Halperin JL, Khalifa SI, Langaee TY, Lubitz SA, Nutescu EA, Oetjens M, Shahin MH, Patel SR, Sagreiya H, Tector M, Weck KE, Rieder MJ, Scott SA, Wu AH, Burmester JK, Wadelius M, Deloukas P, Wagner MJ, Mushiroda T, Kubo M, Roden DM, Cox NJ, Altman RB, Klein TE, Nakamura Y, Johnson JA. Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet [print-electronic]. 2013 Aug 8/31/2013; 382(9894): 790-6. PMID: 23755828, PMCID: PMC3759580, PII: S0140-6736(13)60681-9, DOI: 10.1016/S0140-6736(13)60681-9, ISSN: 1474-547X.

Weng L, Ziliak D, Im HK, Gamazon ER, Philips S, Nguyen AT, Desta Z, Skaar TC, , Flockhart DA, Huang RS. Genome-wide discovery of genetic variants affecting tamoxifen sensitivity and their clinical and functional validation. Ann. Oncol [print-electronic]. 2013 Jul; 24(7): 1867-73. PMID: 23508821, PMCID: PMC3690911, PII: mdt125, DOI: 10.1093/annonc/mdt125, ISSN: 1569-8041.

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, Olopade OI, Huo D. Fine mapping of breast cancer genome-wide association studies loci in women of African ancestry identifies novel susceptibility markers. Carcinogenesis [print-electronic]. 2013 Jul; 34(7): 1520-8. PMID: 23475944, PMCID: PMC3697898, PII: bgt090, DOI: 10.1093/carcin/bgt090, ISSN: 1460-2180.

Lee Y, Li H, Li J, Rebman E, Achour I, Regan KE, Gamazon ER, Chen JL, Yang XH, Cox NJ, Lussier YA. Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. J Am Med Inform Assoc [print-electronic]. 2013 Jul; 20(4): 619-29. PMID: 23355459, PMCID: PMC3721168, PII: amiajnl-2012-001519, DOI: 10.1136/amiajnl-2012-001519, ISSN: 1527-974X.

Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, Davis LK, Osiecki L, McGrath L, Haddad S, Crane J, Hezel D, Illman C, Mayerfeld C, Konkashbaev A, Liu C, Pluzhnikov A, Tikhomirov A, Edlund CK, Rauch SL, Moessner R, Falkai P, Maier W, Ruhrmann S, Grabe HJ, Lennertz L, Wagner M, Bellodi L, Cavallini MC, Richter MA, Cook EH, Kennedy JL, Rosenberg D, Stein DJ, Hemmings SM, Lochner C, Azzam A, Chavira DA, Fournier E, Garrido H, Sheppard B, Umaña P, Murphy DL, Wendland JR, Veenstra-VanderWeele J, Denys D, Blom R, Deforce D, Van Nieuwerburgh F, Westenberg HG, Walitza S, Egberts K, Renner T, Miguel EC, Cappi C, Hounie AG, Conceição do Rosário M, Sampaio AS, Vallada H, Nicolini H, Lanzagorta N, Camarena B, Delorme R, Leboyer M, Pato CN, Pato MT, Voyiaziakis E, Heutink P, Cath DC, Posthuma D, Smit JH, Samuels J, Bienvenu OJ, Cullen B, Fyer AJ, Grados MA, Greenberg BD, McCracken JT, Riddle MA, Wang Y, Coric V, Leckman JF, Bloch M, Pittenger C, Eapen V, Black DW, Ophoff RA, Strengman E, Cusi D, Turiel M, Frau F, Macciardi F, Gibbs JR, Cookson MR, Singleton A, , Hardy J, , Crenshaw AT, Parkin MA, Mirel DB, Conti DV, Purcell S, Nestadt G, Hanna GL, Jenike MA, Knowles JA, Cox N, Pauls DL. Genome-wide association study of obsessive-compulsive disorder. Mol. Psychiatry [print-electronic]. 2013 Jul; 18(7): 788-98. PMID: 22889921, PMCID: PMC4218751, PII: mp201285, DOI: 10.1038/mp.2012.85, ISSN: 1476-5578.

Gamazon ER, Innocenti F, Wei R, Wang L, Zhang M, Mirkov S, Ramírez J, Huang RS, Cox NJ, Ratain MJ, Liu W. A genome-wide integrative study of microRNAs in human liver. BMC Genomics. 2013 Jun 6/13/2013; 14: 395. PMID: 23758991, PMCID: PMC3710218, PII: 1471-2164-14-395, DOI: 10.1186/1471-2164-14-395, ISSN: 1471-2164.

Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, , Hardy J, , Strengman E, Ophoff RA, Wagner M, Moessner R, Mirel DB, Posthuma D, Sabatti C, Eskin E, Conti DV, Knowles JA, Ruiz-Linares A, Rouleau GA, Purcell S, Heutink P, Oostra BA, McMahon WM, Freimer NB, Cox NJ, Pauls DL. Genome-wide association study of Tourette's syndrome. Mol. Psychiatry [print-electronic]. 2013 Jun; 18(6): 721-8. PMID: 22889924, PMCID: PMC3605224, PII: mp201269, DOI: 10.1038/mp.2012.69, ISSN: 1476-5578.

. The Genotype-Tissue Expression (GTEx) project. Nat. Genet. 2013 Jun; 45(6): 580-5. PMID: 23715323, PMCID: PMC4010069, PII: ng.2653, DOI: 10.1038/ng.2653, ISSN: 1546-1718.

Gamazon ER, Lamba JK, 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. Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients. Blood [print-electronic]. 2013 May 5/23/2013; 121(21): 4366-76. PMID: 23538338, PMCID: PMC3663430, PII: blood-2012-10-464149, DOI: 10.1182/blood-2012-10-464149, ISSN: 1528-0020.

Gamazon ER, Badner JA, Cheng L, Zhang C, Zhang D, Cox NJ, Gershon ES, Kelsoe JR, Greenwood TA, Nievergelt CM, Chen C, McKinney R, Shilling PD, Schork NJ, Smith EN, Bloss CS, Nurnberger JI, Edenberg HJ, Foroud T, Koller DL, Scheftner WA, Coryell W, Rice J, Lawson WB, Nwulia EA, Hipolito M, Byerley W, McMahon FJ, Schulze TG, Berrettini WH, Potash JB, Zandi PP, Mahon PB, McInnis MG, Zöllner S, Zhang P, Craig DW, Szelinger S, Barrett TB, Liu C. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants. Mol. Psychiatry [print-electronic]. 2013 Mar; 18(3): 340-6. PMID: 22212596, PMCID: PMC3601550, PII: mp2011174, DOI: 10.1038/mp.2011.174, ISSN: 1476-5578.

Gamazon ER, Pinto N, Konkashbaev A, Im HK, Diskin SJ, London WB, Maris JM, Dolan ME, Cox NJ, Cohn SL. Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. J. Natl. Cancer Inst [print-electronic]. 2013 Feb 2/20/2013; 105(4): 302-9. PMID: 23243203, PMCID: PMC3691940, PII: djs503, DOI: 10.1093/jnci/djs503, ISSN: 1460-2105.

Wheeler HE, Gamazon ER, Stark AL, O'Donnell PH, Gorsic LK, Huang RS, Cox NJ, Dolan ME. Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations. Pharmacogenomics J [print-electronic]. 2013 Feb; 13(1): 35-43. PMID: 21844884, PMCID: PMC3370147, PII: tpj201138, DOI: 10.1038/tpj.2011.38, ISSN: 1473-1150.

Wheeler HE, Gamazon ER, Wing C, Njiaju UO, Njoku C, Baldwin RM, Owzar K, Jiang C, Watson D, Shterev I, Kubo M, Zembutsu H, Winer EP, Hudis CA, Shulman LN, Nakamura Y, Ratain MJ, Kroetz DL, , Cox NJ, Dolan ME. Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of Paclitaxel-induced sensory peripheral neuropathy. Clin. Cancer Res [print-electronic]. 2013 Jan 1/15/2013; 19(2): 491-9. PMID: 23204130, PMCID: PMC3549006, PII: 1078-0432.CCR-12-2618, DOI: 10.1158/1078-0432.CCR-12-2618, ISSN: 1078-0432.

Huang RS, Gamazon ER. Translating pharmacogenomics discoveries into the clinic: an implementation framework. Genome Med. 2013; 5(10): 94. PMID: 24134796, PMCID: PMC4066637, PII: gm497, DOI: 10.1186/gm497, ISSN: 1756-994X.

Gamazon ER, Huang RS, Cox NJ. SCAN: a systems biology approach to pharmacogenomic discovery. Methods Mol. Biol. 2013; 1015: 213-24. PMID: 23824859, PMCID: PMC4032625, DOI: 10.1007/978-1-62703-435-7_14, ISSN: 1940-6029.

Chen LS, Hsu L, Gamazon ER, Cox NJ, Nicolae DL. An exponential combination procedure for set-based association tests in sequencing studies. Am. J. Hum. Genet [print-electronic]. 2012 Dec 12/7/2012; 91(6): 977-86. PMID: 23159251, PMCID: PMC3516612, PII: S0002-9297(12)00526-5, DOI: 10.1016/j.ajhg.2012.09.017, ISSN: 1537-6605.

Gamazon ER. Small science: high stakes [letter]. Science. 2012 Nov 11/16/2012; 338(6109): 883. PMID: 23161975, PII: 338/6109/883-a, DOI: 10.1126/science.338.6109.883-a, ISSN: 1095-9203.

Cox NJ, Gamazon ER, Wheeler HE, Dolan ME. Clinical translation of cell-based pharmacogenomic discovery. Clin. Pharmacol. Ther [print-electronic]. 2012 Oct; 92(4): 425-7. PMID: 22910437, PMCID: PMC3664667, PII: clpt2012115, DOI: 10.1038/clpt.2012.115, ISSN: 1532-6535.

Elbein SC, Gamazon ER, Das SK, Rasouli N, Kern PA, Cox NJ. Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture?. Am. J. Hum. Genet. 2012 Sep 9/7/2012; 91(3): 466-77. PMID: 22958899, PMCID: PMC3512001, PII: S0002-9297(12)00414-4, DOI: 10.1016/j.ajhg.2012.08.002, ISSN: 1537-6605.

Ziliak D, Gamazon ER, Lacroix B, Kyung Im H, Wen Y, Huang RS. Genetic variation that predicts platinum sensitivity reveals the role of miR-193b* in chemotherapeutic susceptibility. Mol. Cancer Ther [print-electronic]. 2012 Sep; 11(9): 2054-61. PMID: 22752226, PMCID: PMC3438340, PII: 1535-7163.MCT-12-0221, DOI: 10.1158/1535-7163.MCT-12-0221, ISSN: 1538-8514.

Ko DC, Gamazon ER, Shukla KP, Pfuetzner RA, Whittington D, Holden TD, Brittnacher MJ, Fong C, Radey M, Ogohara C, Stark AL, Akey JM, Dolan ME, Wurfel MM, Miller SI. Functional genetic screen of human diversity reveals that a methionine salvage enzyme regulates inflammatory cell death. Proc. Natl. Acad. Sci. U.S.A [print-electronic]. 2012 Aug 8/28/2012; 109(35): E2343-52. PMID: 22837397, PMCID: PMC3435171, PII: 1206701109, DOI: 10.1073/pnas.1206701109, ISSN: 1091-6490.

O'Donnell PH, Stark AL, Gamazon ER, Wheeler HE, McIlwee BE, Gorsic L, Im HK, Huang RS, Cox NJ, Dolan ME. Identification of novel germline polymorphisms governing capecitabine sensitivity. Cancer [print-electronic]. 2012 Aug 8/15/2012; 118(16): 4063-73. PMID: 22864933, PMCID: PMC3413892, DOI: 10.1002/cncr.26737, ISSN: 1097-0142.

Geeleher P, Huang SR, Gamazon ER, Golden A, Seoighe C. The regulatory effect of miRNAs is a heritable genetic trait in humans. BMC Genomics. 2012 Aug 8/10/2012; 13: 383. PMID: 23272639, PMCID: PMC3532363, PII: 1471-2164-13-383, DOI: 10.1186/1471-2164-13-383, ISSN: 1471-2164.

Gamazon ER, Perera M. Genome-wide approaches in pharmacogenomics: heritability estimation and pharmacoethnicity as primary challenges [editorial]. Pharmacogenomics. 2012 Jul; 13(10): 1101-4. PMID: 22909197, PMCID: PMC3710727, DOI: 10.2217/pgs.12.88, ISSN: 1744-8042.

Njiaju UO, Gamazon ER, Gorsic LK, Delaney SM, Wheeler HE, Im HK, Dolan ME. Whole-genome studies identify solute carrier transporters in cellular susceptibility to paclitaxel. Pharmacogenet. Genomics. 2012 Jul; 22(7): 498-507. PMID: 22437668, PMCID: PMC3376193, DOI: 10.1097/FPC.0b013e328352f436, ISSN: 1744-6880.

Gamazon ER, Ziliak D, Im HK, LaCroix B, Park DS, Cox NJ, Huang RS. Genetic architecture of microRNA expression: implications for the transcriptome and complex traits. Am. J. Hum. Genet [print-electronic]. 2012 Jun 6/8/2012; 90(6): 1046-63. PMID: 22658545, PMCID: PMC3370272, PII: S0002-9297(12)00258-3, DOI: 10.1016/j.ajhg.2012.04.023, ISSN: 1537-6605.

Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, Cook EH, Sutcliffe JS, Cox NJ. 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. Mol Autism. 2012 May 5/16/2012; 3(1): 3. PMID: 22591576, PMCID: PMC3484025, PII: 2040-2392-3-3, DOI: 10.1186/2040-2392-3-3, ISSN: 2040-2392.

Im HK, Gamazon ER, Nicolae DL, Cox NJ. On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy. Am. J. Hum. Genet [print-electronic]. 2012 Apr 4/6/2012; 90(4): 591-8. PMID: 22463877, PMCID: PMC3322234, PII: S0002-9297(12)00093-6, DOI: 10.1016/j.ajhg.2012.02.008, ISSN: 1537-6605.

Gamazon ER, Skol AD, Perera MA. The limits of genome-wide methods for pharmacogenomic testing. Pharmacogenet. Genomics. 2012 Apr; 22(4): 261-72. PMID: 22344246, PMCID: PMC3655533, DOI: 10.1097/FPC.0b013e328350ca5f, ISSN: 1744-6880.

Wen Y, Gamazon ER, Bleibel WK, Wing C, Mi S, McIlwee BE, Delaney SM, Duan S, Im HK, Dolan ME. An eQTL-based method identifies CTTN and ZMAT3 as pemetrexed susceptibility markers. Hum. Mol. Genet [print-electronic]. 2012 Apr 4/1/2012; 21(7): 1470-80. PMID: 22171072, PMCID: PMC3298275, PII: ddr583, DOI: 10.1093/hmg/ddr583, ISSN: 1460-2083.

Hou N, Zheng Y, Gamazon ER, Ogundiran TO, Adebamowo C, Nathanson KL, Domchek SM, Rebbeck TR, Simon MS, John EM, Hennis A, Nemesure B, Wu SY, Leske MC, Ambs S, Niu Q, Zhang J, Pierce B, Cox NJ, Olopade OI, Huo D. Genetic susceptibility to type 2 diabetes and breast cancer risk in women of European and African ancestry. Cancer Epidemiol. Biomarkers Prev [print-electronic]. 2012 Mar; 21(3): 552-6. PMID: 22237986, PMCID: PMC3297695, PII: 1055-9965.EPI-11-0979, DOI: 10.1158/1055-9965.EPI-11-0979, ISSN: 1538-7755.

Im HK, Gamazon ER, Stark AL, Huang RS, Cox NJ, Dolan ME. Mixed effects modeling of proliferation rates in cell-based models: consequence for pharmacogenomics and cancer. PLoS Genet [print-electronic]. 2012 Feb; 8(2): e1002525. PMID: 22346769, PMCID: PMC3276560, PII: PGENETICS-D-11-01804, DOI: 10.1371/journal.pgen.1002525, ISSN: 1553-7404.

Lee Y, Gamazon ER, Rebman E, Lee Y, Lee S, Dolan ME, Cox NJ, Lussier YA. Variants affecting exon skipping contribute to complex traits. PLoS Genet [print-electronic]. 2012; 8(10): e1002998. PMID: 23133393, PMCID: PMC3486879, PII: PGENETICS-D-11-02434, DOI: 10.1371/journal.pgen.1002998, ISSN: 1553-7404.

Lertpiriyapong K, Gamazon ER, Feng Y, Park DS, Pang J, Botka G, Graffam ME, Ge Z, Fox JG. Campylobacter jejuni type VI secretion system: roles in adaptation to deoxycholic acid, host cell adherence, invasion, and in vivo colonization. PLoS ONE [print-electronic]. 2012; 7(8): e42842. PMID: 22952616, PMCID: PMC3428339, PII: PONE-D-12-13777, DOI: 10.1371/journal.pone.0042842, ISSN: 1932-6203.

Gamazon ER, Huang RS, Dolan ME, Cox NJ, Im HK. Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data. Front Genet. 2012; 3: 202. PMID: 23755062, PMCID: PMC3668276, DOI: 10.3389/fgene.2012.00202, ISSN: 1664-8021.

Huang RS, Johnatty SE, Gamazon ER, Im HK, Ziliak D, Duan S, Zhang W, Kistner EO, Chen P, Beesley J, Mi S, O'Donnell PH, Fraiman YS, Das S, Cox NJ, Lu Y, Macgregor S, Goode EL, Vierkant RA, Fridley BL, Hogdall E, Kjaer SK, Jensen A, Moysich KB, Grasela M, Odunsi K, Brown R, Paul J, Lambrechts D, Despierre E, Vergote I, Gross J, Karlan BY, Defazio A, Chenevix-Trench G, , Dolan ME. Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients. Clin. Cancer Res [print-electronic]. 2011 Aug 8/15/2011; 17(16): 5490-500. PMID: 21705454, PMCID: PMC3160494, PII: 1078-0432.CCR-11-0724, DOI: 10.1158/1078-0432.CCR-11-0724, ISSN: 1078-0432.

Below JE, Gamazon ER, Morrison JV, Konkashbaev A, Pluzhnikov A, McKeigue PM, Parra EJ, Elbein SC, Hallman DM, Nicolae DL, Bell GI, Cruz M, Cox NJ, Hanis CL. Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals. Diabetologia [print-electronic]. 2011 Aug; 54(8): 2047-55. PMID: 21647700, PMCID: PMC3761075, DOI: 10.1007/s00125-011-2188-3, ISSN: 1432-0428.

Huang RS, Gamazon ER, Ziliak D, Wen Y, Im HK, Zhang W, Wing C, Duan S, Bleibel WK, Cox NJ, Dolan ME. Population differences in microRNA expression and biological implications. RNA Biol [print-electronic]. 2011 Jul; 8(4): 692-701. PMID: 21691150, PMCID: PMC3225983, PII: 16029, DOI: 10.4161/rna.8.4.16029, ISSN: 1555-8584.

Innocenti F, Cooper GM, Stanaway IB, Gamazon ER, Smith JD, Mirkov S, Ramirez J, Liu W, Lin YS, Moloney C, Aldred SF, Trinklein ND, Schuetz E, Nickerson DA, Thummel KE, Rieder MJ, Rettie AE, Ratain MJ, Cox NJ, Brown CD. Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. PLoS Genet [print-electronic]. 2011 May; 7(5): e1002078. PMID: 21637794, PMCID: PMC3102751, PII: PGENETICS-D-10-00319, DOI: 10.1371/journal.pgen.1002078, ISSN: 1553-7404.

Ziliak D, O'Donnell PH, Im HK, Gamazon ER, Chen P, Delaney S, Shukla S, Das S, Cox NJ, Vokes EE, Cohen EE, Dolan ME, Huang RS. Germline polymorphisms discovered via a cell-based, genome-wide approach predict platinum response in head and neck cancers. Transl Res [print-electronic]. 2011 May; 157(5): 265-72. PMID: 21497773, PMCID: PMC3079878, PII: S1931-5244(11)00011-9, DOI: 10.1016/j.trsl.2011.01.005, ISSN: 1878-1810.

Perera MA, Gamazon E, Cavallari LH, Patel SR, Poindexter S, Kittles RA, Nicolae D, Cox NJ. The missing association: sequencing-based discovery of novel SNPs in VKORC1 and CYP2C9 that affect warfarin dose in African Americans. Clin. Pharmacol. Ther [print-electronic]. 2011 Mar; 89(3): 408-15. PMID: 21270790, PMCID: PMC3625373, PII: clpt2010322, DOI: 10.1038/clpt.2010.322, ISSN: 1532-6535.

Gamazon ER, Im HK, O'Donnell PH, Ziliak D, Stark AL, Cox NJ, Dolan ME, Huang RS. Comprehensive evaluation of the contribution of X chromosome genes to platinum sensitivity. Mol. Cancer Ther [print-electronic]. 2011 Mar; 10(3): 472-80. PMID: 21252287, PMCID: PMC3079551, PII: 1535-7163.MCT-10-0910, DOI: 10.1158/1535-7163.MCT-10-0910, ISSN: 1538-8514.

Gamazon ER, Nicolae DL, Cox NJ. A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. PLoS Genet. 2011 Feb 2/3/2011; 7(2): e1001292. PMID: 21304891, PMCID: PMC3033384, DOI: 10.1371/journal.pgen.1001292, ISSN: 1553-7404.

Wheeler HE, Gorsic LK, Welsh M, Stark AL, Gamazon ER, Cox NJ, Dolan ME. Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans. PLoS ONE [print-electronic]. 2011; 6(7): e21920. PMID: 21755009, PMCID: PMC3130766, PII: PONE-D-11-07657, DOI: 10.1371/journal.pone.0021920, ISSN: 1932-6203.

Gamazon ER, Huang RS, Dolan ME, Cox NJ. Copy number polymorphisms and anticancer pharmacogenomics. Genome Biol [print-electronic]. 2011; 12(5): R46. PMID: 21609475, PMCID: PMC3219969, PII: gb-2011-12-5-r46, DOI: 10.1186/gb-2011-12-5-r46, ISSN: 1474-760X.

Gamazon ER, Im HK, Duan S, Lussier YA, Cox NJ, Dolan ME, Zhang W. Exprtarget: an integrative approach to predicting human microRNA targets. PLoS ONE. 2010 Oct 10/21/2010; 5(10): e13534. PMID: 20975837, PMCID: PMC2958831, DOI: 10.1371/journal.pone.0013534, ISSN: 1932-6203.

Gamazon ER, Huang RS, Cox NJ, Dolan ME. Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Proc. Natl. Acad. Sci. U.S.A [print-electronic]. 2010 May 5/18/2010; 107(20): 9287-92. PMID: 20442332, PMCID: PMC2889115, PII: 1001827107, DOI: 10.1073/pnas.1001827107, ISSN: 1091-6490.

O'Donnell PH, Gamazon E, Zhang W, Stark AL, Kistner-Griffin EO, Stephanie Huang R, Eileen Dolan M. Population differences in platinum toxicity as a means to identify novel genetic susceptibility variants. Pharmacogenet. Genomics. 2010 May; 20(5): 327-37. PMID: 20393316, PMCID: PMC2908307, PII: 01213011-201005000-00006, DOI: 10.1097/FPC.0b013e3283396c4e, ISSN: 1744-6880.

Nicolae DL, Gamazon E, Zhang W, Duan S, Dolan ME, Cox NJ. Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genet. 2010 Apr 4/1/2010; 6(4): e1000888. PMID: 20369019, PMCID: PMC2848547, DOI: 10.1371/journal.pgen.1000888, ISSN: 1553-7404.

Gamazon ER, Duan S, Zhang W, Huang RS, Kistner EO, Dolan ME, Cox NJ. PACdb: a database for cell-based pharmacogenomics. Pharmacogenet. Genomics. 2010 Apr; 20(4): 269-73. PMID: 20216476, PMCID: PMC2914089, DOI: 10.1097/FPC.0b013e328337b8d6, ISSN: 1744-6880.

Lee Y, Li J, Gamazon E, Chen JL, Tikhomirov A, Cox NJ, Lussier YA. Biomolecular Systems of Disease Buried Across Multiple GWAS Unveiled by Information Theory and Ontology. AMIA Jt Summits Transl Sci Proc. 2010 Mar 3/1/2010; 2010: 31-5. PMID: 21347143, PMCID: PMC3041547, ISSN: 2153-4063.

Gamazon ER, Zhang W, Dolan ME, Cox NJ. Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset. PLoS ONE. 2010 Feb 2/23/2010; 5(2): e9366. PMID: 20186275, PMCID: PMC2826392, DOI: 10.1371/journal.pone.0009366, ISSN: 1932-6203.

Gamazon ER, Zhang W, Konkashbaev A, Duan S, Kistner EO, Nicolae DL, Dolan ME, Cox NJ. SCAN: SNP and copy number annotation. Bioinformatics [print-electronic]. 2010 Jan 1/15/2010; 26(2): 259-62. PMID: 19933162, PMCID: PMC2852202, PII: btp644, DOI: 10.1093/bioinformatics/btp644, ISSN: 1367-4811.

Gamazon ER, Zhang W, Huang RS, Dolan ME, Cox NJ. A pharmacogene database enhanced by the 1000 Genomes Project. Pharmacogenet. Genomics. 2009 Oct; 19(10): 829-32. PMID: 19745786, PMCID: PMC2935084, DOI: 10.1097/FPC.0b013e3283317bac, ISSN: 1744-6872.