Eric R. Gamazon, Ph.D.

Assistant Professor

eric.gamazon@vumc.org

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Faculty Appointments
Assistant Professor of 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 lab develop and apply genomic and computational methods to investigate the genetic architecture of complex traits. 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. An ongoing project involves understanding gene regulation across tissues and cell types to gain insights into disease mechanisms and therapeutic targets. He utilizes large-scale DNA biobank data linked to phenome-scale data, along with data science and computation, to identify genes involved in human health and disease in diverse populations, to discover novel biomarkers, and to enable a comprehensive systems view of the disease phenome.

He leads an R01-funded interdisciplinary laboratory of computational scientists, molecular biologists, and physicists. His lab is a team of computational and wet lab researchers, reflecting diverse research interests.

Ongoing research includes modeling the transcriptional regulatory programs in the brain, in collaboration with human geneticists, neuroscientists, and evolutionary biologists. This work has obvious relevance to understanding the molecular basis of neuropsychiatric and neurodegenerative disorders.

Current research interests in complex traits genetics also include characterizing the genetic architecture of hematopoietic diseases, including Myelodysplastic Syndromes (MDS) and Acute Myeloid Leukemia (AML). He and collaborators are developing functional genomics resources for probing molecular mechanisms underlying hematopoiesis and hematologic disorders. Studies of hematopoietic stem- and progenitor-cells (HSPCs), accumulating genetic modifications, and resulting clonal expansions are of interest.

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., X-ray crystallography, NMR spectroscopy, cryo-electron microscopy).

Since 2010, he has published 160 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.

He is now a Life Member (2019 -- present) of Clare Hall, University of Cambridge, able to return any time to participate in the intellectual life of the college. Clare Hall is the University's "Institute for Advanced Study," a unique college devoted to research and scholarship and a culturally rich and intellectually exciting academic community. In 2018, he was elected to a Clare Hall Visiting Fellowship to advance his research and scholarship and mentor graduate students. 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:

* Appointment to NIH Biostatistical Methods and Research Design (BMRD) study section (2021 – 2025)
* The Neilson Society Lectureship (July 8 2021), Vanderbilt University Medical Center
* Division of Genetic Medicine Research Award in Basic Science, Vanderbilt University Medical Center (2021)
* Election to Sigma Xi (2020)
* Recipient of inaugural NIH Genomic Innovator Award (2019)
* Life Member, Clare Hall, University of Cambridge (2019)
* Elected Fellow of the 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, Statistical Genetics, Evolutionary Genomics, Computational Biology, Psychiatric Genomics, Genetic Epidemiology, Bioinformatics, Transcriptome, Pharmacogenomics, Molecular Dynamics, Density Functional Theory (DFT), Coarse-grained Models, Machine Learning, Hematopoiesis, Stem Cells, Cancer Biology
Publications
Wang B, Gamazon ER. Modeling mutational effects on biochemical phenotypes using convolutional neural networks: application to SARS-CoV-2. IScience [print-electronic]. 2022 Jul 7/15/2022; 25(7): 104500. PMID: 35669036, PMCID: PMC9159778, PII: S2589-0042(22)00771-4, DOI: 10.1016/j.isci.2022.104500, ISSN: 2589-0042.

Gerring ZF, Thorp JG, Gamazon ER, Derks EM. An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes. Eur J Hum Genet [print-electronic]. 2022 May; 30(5): 560-6. PMID: 35217801, PMCID: PMC9090912, PII: 10.1038/s41431-022-01037-6, DOI: 10.1038/s41431-022-01037-6, ISSN: 1476-5438.

Thomeas-McEwing V, Psotka MA, Gamazon ER, Friedman P, Konkashbaev A, Kubo M, Nakamura Y, Ratain MJ, Benza RL, Cox NJ, Gomberg-Maitland MI, Maitland ML. Two polymorphic gene loci associated with treprostinil dose in pulmonary arterial hypertension. Pharmacogenet Genomics [print-electronic]. 2022 Apr 4/7/2022; PMID: 35383711, PII: 01213011-990000000-00001, DOI: 10.1097/FPC.0000000000000463, ISSN: 1744-6880.

Zhou D, Gamazon ER. Integrative transcriptomic, evolutionary, and causal inference framework for region-level analysis: Application to COVID-19. NPJ Genom Med. 2022 Mar 3/22/2022; 7(1): 24. PMID: 35318325, PII: 10.1038/s41525-022-00296-y, DOI: 10.1038/s41525-022-00296-y, ISSN: 2056-7944.

Gerring ZF, Thorp JG, Gamazon ER, Derks EM. A Local Genetic Correlation Analysis Provides Biological Insights Into the Shared Genetic Architecture of Psychiatric and Substance Use Phenotypes. Biol Psychiatry [print-electronic]. 2022 Mar 3/11/2022; PMID: 35525699, PII: S0006-3223(22)01071-X, DOI: 10.1016/j.biopsych.2022.03.001, ISSN: 1873-2402.

Gerring ZF, Thorp JG, Gamazon ER, Derks EM. A Local Genetic Correlation Analysis Provides Biological Insights Into the Shared Genetic Architecture of Psychiatric and Substance Use Phenotypes. Biol Psychiatry [print-electronic]. 2022 Mar 3/11/2022; PMID: 35525699, PII: S0006-3223(22)01071-X, DOI: 10.1016/j.biopsych.2022.03.001, ISSN: 1873-2402.

Gerring ZF, Thorp JG, Gamazon ER, Derks EM. An analysis of genetically regulated gene expression and the role of co-expression networks across 16 psychiatric and substance use phenotypes. Eur J Hum Genet [print-electronic]. 2022 Feb 2/25/2022; PMID: 35217801, PII: 10.1038/s41431-022-01037-6, DOI: 10.1038/s41431-022-01037-6, ISSN: 1476-5438.

Chen HH, Petty LE, North KE, McCormick JB, Fisher-Hoch SP, Gamazon ER, Below JE. Novel diabetes gene discovery through comprehensive characterization and integrative analysis of longitudinal gene expression changes. Hum Mol Genet [print-electronic]. 2022 Feb 2/14/2022; PMID: 35157052, PII: 6528271, DOI: 10.1093/hmg/ddac039, ISSN: 1460-2083.

Chen HH, Petty LE, Sha J, Zhao Y, Kuzma A, Valladares O, , Bush W, Naj AC, Gamazon ER, Below JE. Genetically regulated expression in late-onset Alzheimer's disease implicates risk genes within known and novel loci. Transl Psychiatry. 2021 Dec 12/6/2021; 11(1): 618. PMID: 34873149, PII: 10.1038/s41398-021-01677-0, DOI: 10.1038/s41398-021-01677-0, ISSN: 2158-3188.

Jacome-Sosa M, Miao ZF, Peche VS, Morris EF, Narendran R, Pietka KM, Samovski D, Lo HG, Pietka T, Varro A, Love-Gregory L, Goldenring JR, Kuda O, Gamazon ER, Mills JC, Abumrad NA. CD36 maintains the gastric mucosa and associates with gastric disease. Commun Biol. 2021 Nov 11/2/2021; 4(1): 1247. PMID: 34728772, PMCID: PMC8563937, PII: 10.1038/s42003-021-02765-z, DOI: 10.1038/s42003-021-02765-z, ISSN: 2399-3642.

Wang Y, Yen FS, Zhu XG, Timson RC, Weber R, Xing C, Liu Y, Allwein B, Luo H, Yeh HW, Heissel S, Unlu G, Gamazon ER, Kharas MG, Hite R, Birsoy K. SLC25A39 is necessary for mitochondrial glutathione import in mammalian cells. Nature [print-electronic]. 2021 Oct 10/27/2021; PMID: 34707288, PII: 10.1038/s41586-021-04025-w, DOI: 10.1038/s41586-021-04025-w, ISSN: 1476-4687.

Pietzner M, Wheeler E, Carrasco-Zanini J, Cortes A, Koprulu M, Wörheide MA, Oerton E, Cook J, Stewart ID, Kerrison ND, Luan J, Raffler J, Arnold M, Arlt W, O'Rahilly S, Kastenmüller G, Gamazon ER, Hingorani AD, Scott RA, Wareham NJ, Langenberg C. Mapping the proteo-genomic convergence of human diseases. Science [print-electronic]. 2021 Oct 10/14/2021; eabj1541. PMID: 34648354, DOI: 10.1126/science.abj1541, ISSN: 1095-9203.

Gerring ZF, Gamazon ER, White A, Derks EM. Integrative Network-Based Analysis Reveals Gene Networks and Novel Drug Repositioning Candidates for Alzheimer Disease. Neurol Genet. 2021 Oct; 7(5): e622. PMID: 34532569, PMCID: PMC8441674, PII: NG2021016947, DOI: 10.1212/NXG.0000000000000622, ISSN: 2376-7839.

Liu D, Zhu J, Zhou D, Nikas EG, Mitanis NT, Sun Y, Wu C, Mancuso N, Cox NJ, Wang L, Freedland SJ, Haiman CA, Gamazon ER, Nikas JB, Wu L. A transcriptome-wide association study identifies novel candidate susceptibility genes for prostate cancer risk. Int J Cancer [print-electronic]. 2021 Sep 9/14/2021; PMID: 34520569, DOI: 10.1002/ijc.33808, ISSN: 1097-0215.

Sun Y, Zhu J, Zhou D, Canchi S, Wu C, Cox NJ, Rissman RA, Gamazon ER, Wu L. A transcriptome-wide association study of Alzheimer's disease using prediction models of relevant tissues identifies novel candidate susceptibility genes. Genome Med. 2021 Sep 9/1/2021; 13(1): 141. PMID: 34470669, PII: 10.1186/s13073-021-00959-y, DOI: 10.1186/s13073-021-00959-y, ISSN: 1756-994X.

Sun Y, Zhou D, Rahman MR, Zhu J, Ghoneim D, Cox NJ, Beach TG, Wu C, Gamazon ER, Wu L. A transcriptome-wide association study identifies novel blood-based gene biomarker candidates for Alzheimer's disease risk. Hum Mol Genet [print-electronic]. 2021 Aug 8/13/2021; PMID: 34387340, PII: 6350365, DOI: 10.1093/hmg/ddab229, ISSN: 1460-2083.

Zhou D, Yu D, Scharf JM, Mathews CA, McGrath L, Cook E, Lee SH, Davis LK, Gamazon ER. Contextualizing genetic risk score for disease screening and rare variant discovery. Nat Commun. 2021 Jul 7/20/2021; 12(1): 4418. PMID: 34285202, PII: 10.1038/s41467-021-24387-z, DOI: 10.1038/s41467-021-24387-z, ISSN: 2041-1723.

Gamazon ER. Detecting context-dependent gene regulation. Nat Comput Sci [print-electronic]. 2021 Jun; 1(6): 393-4. PMID: 34532714, PMCID: PMC8439414, DOI: 10.1038/s43588-021-00092-1, ISSN: 2662-8457.

Azevedo T, Dimitri GM, Lió P, Gamazon ER. Multilayer modelling of the human transcriptome and biological mechanisms of complex diseases and traits. NPJ Syst Biol Appl. 2021 May 5/27/2021; 7(1): 24. PMID: 34045472, PII: 10.1038/s41540-021-00186-6, DOI: 10.1038/s41540-021-00186-6, ISSN: 2056-7189.

Highland H, Gamazon E, Below JE. Revisiting Some Useful Statistical Guidelines in Circulation Research in Response to a Changing Landscape. Circ Res [print-electronic]. 2021 May 5/25/2021; PMID: 34032508, DOI: 10.1161/CIRCRESAHA.120.317360, ISSN: 1524-4571.

Hale AT, Bastarache L, Morales DM, Wellons JC, Limbrick DD, Gamazon ER. Multi-omic analysis elucidates the genetic basis of hydrocephalus. Cell Rep. 2021 May 5/4/2021; 35(5): 109085. PMID: 33951428, PII: S2211-1247(21)00418-6, DOI: 10.1016/j.celrep.2021.109085, ISSN: 2211-1247.

Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease. Cell. 2021 Apr 4/13/2021.

Gerring ZF, Mina-Vargas A, Gamazon ER, Derks EM. E-MAGMA: an eQTL-informed method to identify risk genes using genome-wide association study summary statistics. Bioinformatics [print-electronic]. 2021 Feb 2/24/2021; PMID: 33624746, PII: 6149080, DOI: 10.1093/bioinformatics/btab115, ISSN: 1367-4811.

Wang B, Gamazon ER. Modeling mutational effects on biochemical phenotypes using convolutional neural networks: application to SARS-CoV-2. BioRxiv. 2021 Jan 1/28/2021; PMID: 33532766, PMCID: PMC7852230, DOI: 10.1101/2021.01.28.428521.

Barbeira AN, Bonazzola R, Gamazon ER, Liang Y, Park Y, Kim-Hellmuth S, Wang G, Jiang Z, Zhou D, Hormozdiari F, Liu B, Rao A, Hamel AR, Pividori MD, Aguet F, , Bastarache L, Jordan DM, Verbanck M, Do R, , Stephens M, Ardlie K, McCarthy M, Montgomery SB, Segrè AV, Brown CD, Lappalainen T, Wen X, Im HK. Exploiting the GTEx resources to decipher the mechanisms at GWAS loci. Genome Biol. 2021 Jan 1/26/2021; 22(1): 49. PMID: 33499903, PMCID: PMC7836161, PII: 10.1186/s13059-020-02252-4, DOI: 10.1186/s13059-020-02252-4, ISSN: 1474-760X.

Viñas R, Azevedo T, Gamazon ER, Liò P. Deep Learning Enables Fast and Accurate Imputation of Gene Expression. Front Genet. 2021; 12: 624128. PMID: 33927746, PMCID: PMC8076954, DOI: 10.3389/fgene.2021.624128, ISSN: 1664-8021.

Gerring ZF, Vargas AM, Gamazon ER, Derks EM. An integrative systems-based analysis of substance use: eQTL-informed gene-based tests, gene networks, and biological mechanisms. Am J Med Genet B Neuropsychiatr Genet [print-electronic]. 2020 Dec 12/23/2020; PMID: 33369091, DOI: 10.1002/ajmg.b.32829, ISSN: 1552-485X.

Pietzner M, Wheeler E, Carrasco-Zanini J, Raffler J, Kerrison ND, Oerton E, Auyeung VPW, Luan J, Finan C, Casas JP, Ostroff R, Williams SA, Kastenmüller G, Ralser M, Gamazon ER, Wareham NJ, Hingorani AD, Langenberg C. Genetic architecture of host proteins involved in SARS-CoV-2 infection. Nat Commun. 2020 Dec 12/16/2020; 11(1): 6397. PMID: 33328453, PII: 10.1038/s41467-020-19996-z, DOI: 10.1038/s41467-020-19996-z, ISSN: 2041-1723.

Zhou D, Jiang Y, Zhong X, Cox NJ, Liu C, Gamazon ER. A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis. Nat Genet [print-electronic]. 2020 Oct 10/5/2020; PMID: 33020666, PII: 10.1038/s41588-020-0706-2, DOI: 10.1038/s41588-020-0706-2, ISSN: 1546-1718.

Oliva M, Muñoz-Aguirre M, Kim-Hellmuth S, Wucher V, Gewirtz ADH, Cotter DJ, Parsana P, Kasela S, Balliu B, Viñuela A, Castel SE, Mohammadi P, Aguet F, Zou Y, Khramtsova EA, Skol AD, Garrido-Martín D, Reverter F, Brown A, Evans P, Gamazon ER, Payne A, Bonazzola R, Barbeira AN, Hamel AR, Martinez-Perez A, Soria JM, , Pierce BL, Stephens M, Eskin E, Dermitzakis ET, Segrè AV, Im HK, Engelhardt BE, Ardlie KG, Montgomery SB, Battle AJ, Lappalainen T, Guigó R, Stranger BE. The impact of sex on gene expression across human tissues. Science. 2020 Sep 9/11/2020; 369(6509): PMID: 32913072, PII: 369/6509/eaba3066, DOI: 10.1126/science.aba3066, ISSN: 1095-9203.

GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science. 2020 Sep 9/11/2020; 369(6509): 1318-30.

Liu D, Zhou D, Sun Y, Zhu J, Ghoneim D, Wu C, Yao Q, Gamazon ER, Cox NJ, Wu L. A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk. Cancer Res [print-electronic]. 2020 Sep 9/9/2020; PMID: 32907841, PII: 0008-5472.CAN-20-1353, DOI: 10.1158/0008-5472.CAN-20-1353, ISSN: 1538-7445.

Chen HH, Petty LE, Gamazon E, Wells QS, Below JP. Optimizing Genetic Analyses of Serum Lipids in Longitudinal Data. Circ. Res [print-electronic]. 2020 Sep 9/2/2020; PMID: 32873181, DOI: 10.1161/CIRCRESAHA.120.317569, ISSN: 1524-4571.

Zhong X, Yin Z, Jia G, Zhou D, Wei Q, Faucon A, Evans P, Gamazon ER, Li B, Tao R, Rzhetsky A, Bastarache L, Cox NJ. Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. Genet. Med [print-electronic]. 2020 Jul; 22(7): 1191-200. PMID: 32296164, PII: 10.1038/s41436-020-0786-5, DOI: 10.1038/s41436-020-0786-5, ISSN: 1530-0366.

Pietzner M, Wheeler E, Carrasco-Zanini J, Raffler J, Kerrison ND, Oerton E, Auyeung VPW, Luan J, Finan C, Casas JP, Ostroff R, Williams SA, Kastenmüller G, Ralser M, Gamazon ER, Wareham NJ, Hingorani AD, Langenberg C. Genetic architecture of host proteins interacting with SARS-CoV-2. BioRxiv. 2020 Jul 7/1/2020; PMID: 32637948, PMCID: PMC7337378, DOI: 10.1101/2020.07.01.182709.

Phillips CL, Lane A, Gerbing RB, Alonzo TA, Wilkey A, Radloff G, Lange B, Gamazon ER, Dolan ME, Davies SM. Genomic Variants of Cytarabine Sensitivity Associated with Treatment-Related Mortality in Pediatric AML: A Report from the Children's Oncology Group. Clin. Cancer Res [print-electronic]. 2020 Jun 6/15/2020; 26(12): 2891-7. PMID: 32122921, PII: 1078-0432.CCR-19-3117, DOI: 10.1158/1078-0432.CCR-19-3117, ISSN: 1078-0432.

Bayraktar EC, La K, Karpman K, Unlu G, Ozerdem C, Ritter DJ, Alwaseem H, Molina H, Hoffmann HH, Millner A, Atilla-Gokcumen GE, Gamazon ER, Rushing AR, Knapik EW, Basu S, Birsoy K. Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism. Nat Metab [print-electronic]. 2020 Jun; 2(6): 487-98. PMID: 32694732, PII: 10.1038/s42255-020-0206-9, DOI: 10.1038/s42255-020-0206-9, ISSN: 2522-5812.

Gerring ZF, Lupton MK, Edey D, Gamazon ER, Derks EM. An analysis of genetically regulated gene expression across multiple tissues implicates novel gene candidates in Alzheimer's disease. Alzheimers Res Ther. 2020 Apr 4/16/2020; 12(1): 43. PMID: 32299494, PMCID: PMC7164172, PII: 10.1186/s13195-020-00611-8, DOI: 10.1186/s13195-020-00611-8, ISSN: 1758-9193.

Derks EM, Gamazon ER. Transcriptome-wide association analysis offers novel opportunities for clinical translation of genetic discoveries on mental disorders [letter]. World Psychiatry. 2020 Feb; 19(1): 113-4. PMID: 31922671, PMCID: PMC6953546, DOI: 10.1002/wps.20702, ISSN: 1723-8617.

Unlu G, Qi X, Gamazon ER, Melville DB, Patel N, Rushing AR, Hashem M, Al-Faifi A, Chen R, Li B, Cox NJ, Alkuraya FS, Knapik EW. Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Nat. Med [print-electronic]. 2020 Jan; 26(1): 98-109. PMID: 31932796, PII: 10.1038/s41591-019-0705-y, DOI: 10.1038/s41591-019-0705-y, ISSN: 1546-170X.

Evans P, Cox NJ, Gamazon ER. The regulatory genome constrains protein sequence evolution: implications for the search for disease-associated genes. PeerJ. 2020; 8: e9554. PMID: 32765967, PMCID: PMC7380284, PII: 9554, DOI: 10.7717/peerj.9554, ISSN: 2167-8359.

Marees AT, Gamazon ER, Gerring Z, Vorspan F, Fingal J, van den Brink W, Smit DJA, Verweij KJH, Kranzler HR, Sherva R, Farrer L, , Gelernter J, Derks EM. Post-GWAS analysis of six substance use traits improves the identification and functional interpretation of genetic risk loci. Drug Alcohol Depend [print-electronic]. 2019 Nov 11/4/2019; 107703. PMID: 31785998, PII: S0376-8716(19)30480-6, DOI: 10.1016/j.drugalcdep.2019.107703, ISSN: 1879-0046.

Colbran LL, Gamazon ER, Zhou D, Evans P, Cox NJ, Capra JA. Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences. Nat Ecol Evol [print-electronic]. 2019 Oct 10/7/2019; PMID: 31591491, PII: 10.1038/s41559-019-0996-x, DOI: 10.1038/s41559-019-0996-x, ISSN: 2397-334X.

Gerring ZF, Gamazon ER, Derks EM, . A gene co-expression network-based analysis of multiple brain tissues reveals novel genes and molecular pathways underlying major depression. PLoS Genet. 2019 Jul; 15(7): e1008245. PMID: 31306407, PMCID: PMC6658115, PII: PGENETICS-D-19-00182, DOI: 10.1371/journal.pgen.1008245, ISSN: 1553-7404.

El Charif O, Mapes B, Trendowski MR, Wheeler HE, Wing C, Dinh PC, Frisina RD, Feldman DR, Hamilton RJ, Vaughn DJ, Fung C, Kollmannsberger C, Mushiroda T, Kubo M, Gamazon ER, Cox NJ, Huddart R, Ardeshir-Rouhani-Fard S, Monahan P, Fossa SD, Einhorn LH, Travis LB, Dolan ME. Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms. Clin. Cancer Res [print-electronic]. 2019 Jul 7/1/2019; 25(13): 4104-16. PMID: 30952644, PII: 1078-0432.CCR-18-3179, DOI: 10.1158/1078-0432.CCR-18-3179, ISSN: 1078-0432.

Zhong Y, Perera MA, Gamazon ER. On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations. Am. J. Hum. Genet [print-electronic]. 2019 Jun 6/6/2019; 104(6): 1097-115. PMID: 31104770, PMCID: PMC6562007, PII: S0002-9297(19)30155-7, DOI: 10.1016/j.ajhg.2019.04.009, ISSN: 1537-6605.

Gamazon ER, Zwinderman AH, Cox NJ, Denys D, Derks EM. Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits [letter]. Nat. Genet [print-electronic]. 2019 Jun; 51(6): 933-40. PMID: 31086352, PMCID: PMC6590703, PII: 10.1038/s41588-019-0409-8, DOI: 10.1038/s41588-019-0409-8, ISSN: 1546-1718.

Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S, , , , Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA. Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nat. Genet. 2019 Jun; 51(6): 1068. PMID: 31086353, PII: 10.1038/s41588-019-0435-6, DOI: 10.1038/s41588-019-0435-6, ISSN: 1546-1718.

Bruehl S, Gamazon ER, Van de Ven T, Buchheit T, Walsh CG, Mishra P, Ramanujan K, Shaw A. DNA methylation profiles are associated with complex regional pain syndrome following traumatic injury. Pain [print-electronic]. 2019 May 5/22/2019; PMID: 31145213, DOI: 10.1097/j.pain.0000000000001624, ISSN: 1872-6623.

Ferreira MA, Gamazon ER, Al-Ejeh F, Aittomäki K, Andrulis IL, Anton-Culver H, Arason A, Arndt V, Aronson KJ, Arun BK, Asseryanis E, Azzollini J, Balmaña J, Barnes DR, Barrowdale D, Beckmann MW, Behrens S, Benitez J, Bermisheva M, Bialkowska K, Blomqvist C, Bogdanova NV, Bojesen SE, Bolla MK, Borg A, Brauch H, Brenner H, Broeks A, Burwinkel B, Caldés T, Caligo MA, Campa D, Campbell I, Canzian F, Carter J, Carter BD, Castelao JE, Chang-Claude J, Chanock SJ, Christiansen H, Chung WK, Claes KBM, Clarke CL, , , , Couch FJ, Cox A, Cross SS, Czene K, Daly MB, de la Hoya M, Dennis J, Devilee P, Diez O, Dörk T, Dunning AM, Dwek M, Eccles DM, Ejlertsen B, Ellberg C, Engel C, Eriksson M, Fasching PA, Fletcher O, Flyger H, Friedman E, Frost D, Gabrielson M, Gago-Dominguez M, Ganz PA, Gapstur SM, Garber J, García-Closas M, García-Sáenz JA, Gaudet MM, Giles GG, Glendon G, Godwin AK, Goldberg MS, Goldgar DE, González-Neira A, Greene MH, Gronwald J, Guénel P, Haiman CA, Hall P, Hamann U, He W, Heyworth J, Hogervorst FBL, Hollestelle A, Hoover RN, Hopper JL, Hulick PJ, Humphreys K, Imyanitov EN, , , , Isaacs C, Jakimovska M, Jakubowska A, James PA, Janavicius R, Jankowitz RC, John EM, Johnson N, Joseph V, Karlan BY, Khusnutdinova E, Kiiski JI, Ko YD, Jones ME, Konstantopoulou I, Kristensen VN, Laitman Y, Lambrechts D, Lazaro C, Leslie G, Lester J, Lesueur F, Lindström S, Long J, Loud JT, Lubinski J, Makalic E, Mannermaa A, Manoochehri M, Margolin S, Maurer T, Mavroudis D, McGuffog L, Meindl A, Menon U, Michailidou K, Miller A, Montagna M, Moreno F, Moserle L, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Nevelsteen I, Nielsen FC, Nikitina-Zake L, Nussbaum RL, Offit K, Olah E, Olopade OI, Olsson H, Osorio A, Papp J, Park-Simon TW, Parsons MT, Pedersen IS, Peixoto A, Peterlongo P, Pharoah PDP, Plaseska-Karanfilska D, Poppe B, Presneau N, Radice P, Rantala J, Rennert G, Risch HA, Saloustros E, Sanden K, Sawyer EJ, Schmidt MK, Schmutzler RK, Sharma P, Shu XO, Simard J, Singer CF, Soucy P, Southey MC, Spinelli JJ, Spurdle AB, Stone J, Swerdlow AJ, Tapper WJ, Taylor JA, Teixeira MR, Terry MB, Teulé A, Thomassen M, Thöne K, Thull DL, Tischkowitz M, Toland AE, Torres D, Truong T, Tung N, Vachon CM, van Asperen CJ, van den Ouweland AMW, van Rensburg EJ, Vega A, Viel A, Wang Q, Wappenschmidt B, Weitzel JN, Wendt C, Winqvist R, Yang XR, Yannoukakos D, Ziogas A, Kraft P, Antoniou AC, Zheng W, Easton DF, Milne RL, Beesley J, Chenevix-Trench G. Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Nat Commun. 2019 Apr 4/15/2019; 10(1): 1741. PMID: 30988301, PMCID: PMC6465407, PII: 10.1038/s41467-018-08053-5, DOI: 10.1038/s41467-018-08053-5, ISSN: 2041-1723.

Petty LE, Highland HM, Gamazon ER, Hu H, Karhade M, Chen HH, de Vries PS, Grove ML, Aguilar D, Bell GI, Huff CD, Hanis CL, Doddapaneni H, Munzy DM, Gibbs RA, Ma J, Parra EJ, Cruz M, Valladares-Salgado A, Arking DE, Barbeira A, Im HK, Morrison AC, Boerwinkle E, Below JE. Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Hum. Mol. Genet. 2019 Apr 4/1/2019; 28(7): 1212-24. PMID: 30624610, PMCID: PMC6423424, PII: 5256804, DOI: 10.1093/hmg/ddy435, ISSN: 1460-2083.

Huckins LM, Dobbyn A, Ruderfer DM, Hoffman G, Wang W, Pardiñas AF, Rajagopal VM, Als TD, T Nguyen H, Girdhar K, Boocock J, Roussos P, Fromer M, Kramer R, Domenici E, Gamazon ER, Purcell S, , , , Demontis D, Børglum AD, Walters JTR, O'Donovan MC, Sullivan P, Owen MJ, Devlin B, Sieberts SK, Cox NJ, Im HK, Sklar P, Stahl EA. Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. Nat. Genet [print-electronic]. 2019 Apr; 51(4): 659-74. PMID: 30911161, PII: 10.1038/s41588-019-0364-4, DOI: 10.1038/s41588-019-0364-4, ISSN: 1546-1718.

Unlu G, Gamazon ER, Qi X, Levic DS, Bastarache L, Denny JC, Roden DM, Mayzus I, Breyer M, Zhong X, Konkashbaev AI, Rzhetsky A, Knapik EW, Cox NJ. GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. Am. J. Hum. Genet [print-electronic]. 2019 Mar 3/7/2019; 104(3): 503-19. PMID: 30827500, PMCID: PMC6407495, PII: S0002-9297(19)30017-5, DOI: 10.1016/j.ajhg.2019.01.017, ISSN: 1537-6605.

Park CS, De T, Xu Y, Zhong Y, Smithberger E, Alarcon C, Gamazon ER, Perera MA. Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans. NPJ Genom Med. 2019; 4: 29. PMID: 31798965, PMCID: PMC6877651, PII: 102, DOI: 10.1038/s41525-019-0102-y, ISSN: 2056-7944.

Salisbury-Ruf CT, Bertram CC, Vergeade A, Lark DS, Shi Q, Heberling ML, Fortune NL, Okoye GD, Jerome WG, Wells QS, Fessel J, Moslehi J, Chen H, Roberts LJ, Boutaud O, Gamazon ER, Zinkel SS. Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study. Elife. 2018 Oct 10/3/2018; 7: PMID: 30281024, PMCID: PMC6234033, PII: 40907, DOI: 10.7554/eLife.40907, ISSN: 2050-084X.

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.