Publications

Select Publications

Strobl EV, Gamazon ER. (2024) Discovering root causal genes with high throughput perturbations. bioRxiv. doi: 10.1101/2024.01.13.574491.
Strobl EV, Lasko TA, Gamazon ER. (2024) Mitigating pathogenesis for target discovery and disease subtyping. Comput Biol Med. doi: 10.1016/j.compbiomed.2024.108122.
Viñas R, Joshi CK, Georgiev D, Lin P, Dumitrascu B*, Gamazon ER*, Liò P*. (2023) Hypergraph factorization for multi-tissue gene expression imputation. Nature Machine Intelligence. doi: 10.1038/s42256-023-00684-8. *Co-senior authors. Selected for July 2023 cover.
Bhattacharya A, Hirbo JB, Zhou D, Zhou W, Zheng J, Kanai M; Global Biobank Meta-analysis Initiative, Pasaniuc B*, Gamazon ER*, Cox NJ*. (2022) Best practices for multi-ancestry, meta-analytic transcriptome-wide association studies: Lessons from the Global Biobank Meta-analysis Initiative. Cell Genomics. 2022 Oct 12;2(10):100180. doi: 10.1016/j.xgen.2022.100180. *Equal contribution.
Zhou D, Jiang Y, Zhong X, Cox NJ, Liu C, Gamazon ER. (2020) A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis. Nature Genetics. doi: 10.1038/s41588-020-0706-2.
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. (2021) SLC25A39 is necessary for mitochondrial glutathione import in mammalian cells. Nature. 2021 Oct 27. doi: 10.1038/s41586-021-04025-w. Online ahead of print. PMID: 34707288.
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. (2021) Mapping the proteo-genomic convergence of human diseases. Science. 2021 Oct 14:eabj1541. doi: 10.1126/science.abj1541. Online ahead of print. PMID: 34648354.
Contextualizing genetic risk score for disease screening and rare variant discovery. Zhou D, Yu D, Scharf JM, Mathews CA, McGrath L, Cook E, Lee SH, Davis LK, Gamazon ER. (2021) Nature Communications. doi: 10.1038/s41467-021-24387-z.
Gamazon ER, et al. (2019) Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits. Nature Genetics. doi: 10.1038/s41588-019-0409-8.
Zhong Y, Perera MA, Gamazon ER. (2019) On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations. American Journal of Human Genetics. 104(6):1097-1115. doi: 10.1016/j.ajhg.2019.04.009. Epub 2019 May 16.
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 2nd, Boutaud O, Gamazon ER*, Zinkel SS*. (2018) Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study. eLife. *Co-corresponding authors.
Gamazon ER, Segre AV, van de Bunt M, et al. (2018) Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Nature Genetics. doi: 10.1038/s41588-018-0154-4.
The GTEx Consortium* (2017) Genetic effects on gene expression across human tissues. Nature. 550(7675):204-213. doi: 10.1038/nature24277. *Gamazon ER was co-chair of the GTEx GWAS Working Group and a member of the GTEx Analysis Working Group.
Fuchsberger C, et al. (2016) The genetic architecture of type 2 diabetes. Nature. doi: 10.1038/nature18642.
Geeleher P, Gamazon ER, Seoighe C, et al. (2016) Consistency in large pharmacogenomic studies. Nature. doi: 10.1038/nature19838.
Gamazon ER, Wheeler HE, Shah KP, et al. (2015) A gene-based association method for mapping traits using reference transcriptome data. Nature Genetics. doi: 10.1038/ng.3367.
The GTEx Consortium* (2015) The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. Science. 348 (6235):648-660. *Gamazon ER was co-chair of the GTEx GWAS Working Group and a member of the GTEx Analysis Working Group.
Smemo S, Tena JT, Kim K, Gamazon ER, Sakabe, NJ, Gómez-Marín C, ... & Nóbrega MA. (2014) Obesity-associated variants within FTO form long-range functional connections with IRX3. Nature. 507(7492):371-5. doi: 10.1038/nature13138. Epub 2014 Mar 12.
Wang J, Gamazon ER, Pierce BL, et al. (2016) Imputing gene expression in uncollected tissues within and beyond GTEx. American Journal of Human Genetics. pii: S0002-9297(16)00071-9. doi: 10.1016/j.ajhg.2016.02.020.
Perera MA, Cavallari LH, Limdi NA, Gamazon ER, et al. (2013) Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet. 382(9894):790-6.doi: 10.1016/S0140-6736(13)60681-9.
Gamazon ER, Ziliak D, Im HK, LaCroix B, Park DS, et al. (2012) Genetic architecture of microRNA expression: implications for the transcriptome and complex traits. American Journal of Human Genetics. 90(6):1046-63.
Nicolae DL, Gamazon E, Zhang W, et al. (2010) Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. PLoS Genetics. 6(4):e1000888.

Select Peer-reviewed Journal Articles

(> 180 publications)

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. (2021) SLC25A39 is necessary for mitochondrial glutathione import in mammalian cells. Nature. 2021 Oct 27. doi: 10.1038/s41586-021-04025-w. Online ahead of print. PMID: 34707288.
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. (2021) Mapping the proteo-genomic convergence of human diseases. Science. 2021 Oct 14:eabj1541. doi: 10.1126/science.abj1541. Online ahead of print. PMID: 34648354.
Contextualizing genetic risk score for disease screening and rare variant discovery. Zhou D, Yu D, Scharf JM, Mathews CA, McGrath L, Cook E, Lee SH, Davis LK, Gamazon ER. Nature Communications. 2021 Jul 20;12(1):4418. doi: 10.1038/s41467-021-24387-z.
Detecting context-dependent gene regulation. Gamazon ER. Nature Computational Science. 2021 June 24; 1:393-394. doi: 10.1038/s43588-021-00092-1.
Multilayer modeling of the human transcriptome and biological mechanisms of complex diseases and traits. Azevedo T, Dimitri GM, Lio P, Gamazon ER. NPJ Systems Biology and Applications. 2021 May 27;7(1):24. doi: 10.1038/s41540-021-00186-6.
Multi-omic analysis elucidates the genetic basis of hydrocephalus. Hale AT, Bastarache L, Morales DM, Wellons JC 3rd, Limbrick DD Jr, Gamazon ER. Cell Reports. 2021 May 4;35(5):109085. doi: 10.1016/j.celrep.2021.109085.
Revisiting some useful statistical guidelines in Circulation Research in response to a changing landscape. Highland HM, Gamazon ER, Below JE. Circulation Research. 2021 May 28;128(11):1724-1727. doi: 10.1161/CIRCRESAHA.120.317360.
Deep learning enables fast and accurate imputation of gene expression. Vinas R, Azevedo T, Gamazon ER*, Lio P*. Frontiers in Genetics. 2021 Apr 13;12:624128. doi: 10.3389/fgene.2021.624128. eCollection 2021. *Co-corresponding and co-senior authors.
A unified framework for joint-tissue transcriptome-wide association and Mendelian randomization analysis. Zhou D, Jiang Y, Zhong X, Cox NJ, Liu C, Gamazon ER. Nature Genetics. 2020 Nov;52(11):1239-1246. doi: 10.1038/s41588-020-0706-2.
E-MAGMA: an eQTL-informed method to identify risk genes using genome-wide association study summary statistics. Gerring ZF, Mina-Vargas A, Gamazon ER, Derks EM. Bioinformatics. 2021 Feb 24:btab115. doi: 10.1093/bioinformatics/btab115. Online ahead of print. PMID: 33624746.
Exploiting the GTEx resources to decipher the mechanisms at GWAS loci. Barbeira AN*, Bonazzola R*, Gamazon ER*, Liang Y*, Park Y*, et al. Genome Biology. 2021 Jan 26;22(1):49. doi: 10.1186/s13059-020-02252-4. PMID: 33499903. Co-first author.
Genetic architecture of host proteins involved in SARS-CoV-2 infection. 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. Nature Communications. 2020 Dec 16;11(1):6397. doi: 10.1038/s41467-020-19996-z. PMID: 33328453.
An integrative systems-based analysis of substance use: eQTL-informed gene-based tests, gene networks, and biological mechanisms. Gerring ZF, Vargas AM, Gamazon ER, Derks EM. Am J Med Genet B Neuropsychiatr Genet. 2020 Dec 23. doi: 10.1002/ajmg.b.32829. Online ahead of print. PMID: 33369091.
The impact of sex on gene expression across human tissues. 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; GTEx Consortium, 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. Science. 2020 Sep 11;369(6509):eaba3066. doi: 10.1126/science.aba3066.
GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science. 2020 Sep 11;369(6509):1318-1330. doi: 10.1126/science.aaz1776.
A Transcriptome-Wide Association Study Identifies Candidate Susceptibility Genes for Pancreatic Cancer Risk. Liu D, Zhou D, Sun Y, Zhu J, Ghoneim D, Wu C, Yao Q, Gamazon ER, Cox NJ, Wu L. Cancer Research. 2020 Oct 15;80(20):4346-4354. doi: 10.1158/0008-5472.CAN-20-1353. Epub 2020 Sep 9.
Optimizing Genetic Analyses of Serum Lipids in Longitudinal Data. Chen HH, Petty LE, Gamazon ER, Wells QS, Below JE. Circulation Research. 2020 Oct 23;127(10):1337-1339. doi: 10.1161/CIRCRESAHA.120.317569. Epub 2020 Sep 2.
The regulatory genome constrains protein sequence evolution: implications for the search for disease-associated genes. Evans P, Cox NJ, Gamazon ER. PeerJ. 2020 Jul 21;8:e9554. doi: 10.7717/peerj.9554.
Metabolic coessentiality mapping identifies C12orf49 as a regulator of SREBP processing and cholesterol metabolism. 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. Nature Metabolism. 2020 Jun;2(6):487-498. doi: 10.1038/s42255-020-0206-9. Epub 2020 Jun 1.
An analysis of genetically regulated gene expression across multiple tissues implicates novel gene candidates in Alzheimer's disease. Gerring ZF, Lupton MK, Edey D, Gamazon ER, Derks EM. Alzheimers Res Ther. 2020 Apr 16;12(1):43. doi: 10.1186/s13195-020-00611-8. PMID: 32299494.
Genomic Variants of Cytarabine Sensitivity Associated with Treatment-Related Mortality in Pediatric AML: A Report from the Children's Oncology Group. Phillips CL, Lane A, Gerbing RB, Alonzo TA, Wilkey A, Radloff G, Lange B, Gamazon ER, Dolan ME, Davies SM. Clinical Cancer Research. 2020 Jun 15;26(12):2891-2897. doi: 10.1158/1078-0432.CCR-19-3117. Epub 2020 Mar 2. PMID: 32122921.
Electronic health record phenotypes associated with genetically regulated expression of CFTR and application to cystic fibrosis. 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. Genetics in Medicine. 2020 Apr 16. doi: 10.1038/s41436-020-0786-5. Online ahead of print. PMID: 32296164.
Transcriptome-wide association analysis offers novel opportunities for clinical translation of genetic discoveries on mental disorders. Derks EM, Gamazon ER. World Psychiatry. 2020 Feb;19(1):113-114. doi: 10.1002/wps.20702. PMID: 31922671.
Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. Unlu G, Qi X, Gamazon ER*, Melville DB*, et al. Nature Medicine. 2020;26(1):98–109. doi:10.1038/s41591-019-0705-y.
Inferred divergent gene regulation in archaic hominins reveals potential phenotypic differences. Colbran LL, Gamazon ER, Zhou D, Evans P, Cox NJ, Capra JA. Nature Ecology & Evolution. 2019 Oct 7. doi: 10.1038/s41559-019-0996-x. PMID: 31591491. Selected for editorial commentary. Selected for F1000.
Multi-tissue transcriptome analyses identify genetic mechanisms underlying neuropsychiatric traits. Gamazon ER*, Zwinderman AH, et al. Nature Genetics. 2019 Jun;51(6):933-940. doi: 10.1038/s41588-019-0409-8. Epub 2019 May 13. PMID: 31086352. Co-corresponding author. Featured in "Editor's Choice" in Science (14 June 2019).
Hepatocyte gene expression and DNA methylation as ancestry-dependent mechanisms in African Americans. Park CS, De T, Xu Y, Zhong Y, Smithberger E, Alarcon C, Gamazon ER, Perera MA. NPJ Genom Med. 2019 Nov 25;4:29. doi:10.1038/s41525-019-0102-y. eCollection 2019. PMID: 31798965.
Post-GWAS analysis of six substance use traits improves the identification and functional interpretation of genetic risk loci. Marees AT, Gamazon ER, Gerring Z, Vorspan F, Fingal J, van den Brink W, Smit DJA, Verweij KJH, Kranzler HR, Sherva R, Farrer L; International Cannabis Consortium, Gelernter J, Derks EM. Drug Alcohol Depend. 2019 Nov 4:107703. doi: 10.1016/j.drugalcdep.2019.107703. [Epub ahead of print] PMID: 31785998.
On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations. Zhong Y, Perera MA, Gamazon ER. American Journal of Human Genetics. 2019 Jun 6;104(6):1097-1115. doi: 10.1016/j.ajhg.2019.04.009. Epub 2019 May 16. PMID: 31104770. Selected for editorial commentary in "AJHG Editor's Corner."
A gene co-expression network-based analysis of multiple brain tissues reveals novel genes and molecular pathways underlying major depression. Gerring ZF, Gamazon ER, Derks EM for the Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium. PLoS Genetics. 2019 Jul 15;15(7):e1008245. doi: 10.1371/journal.pgen.1008245. eCollection 2019 Jul. PMID: 31306407. Selected for cover of PLoS Genetics.
Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. Ferreira MA, Gamazon ER, Al-Ejeh F, et al. Nature Communications. 2019 Apr 15;10(1):1741. doi: 10.1038/s41467-018-08053-5. PMID: 30988301.
DNA methylation profiles are associated with complex regional pain syndrome following traumatic injury. Bruehl S*, Gamazon ER*, Van de Ven T, et al. Pain. 2019 May 22. doi: 10.1097/j.pain.0000000000001624. [Epub ahead of print] PMID: 31145213. *Equal Contribution.
Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms. El Charif O, Mapes B, Trendowski MR, Wheeler HE, Wing C, Dinh PC Jr, Frisina RD, Feldman DR, Hamilton RJ, Vaughn DJ, Fung C, Kollmannsberger C, Mushiroda T, Kubo M, Gamazon ER, et al. Clinical Cancer Research. 2019 Jul 1;25(13):4104-4116. doi: 10.1158/1078-0432.CCR-18-3179. PMID: 30952644.
Gene expression imputation across multiple brain regions provides insights into schizophrenia risk. 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. Nature Genetics. 2019. PMID: 30911161.
GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish. Unlu G*, Gamazon ER*, Qi X, Levic DS, et al. American Journal of Human Genetics. 2019. 104(3):503-519. PMID: 30827500, PMCID: PMC6407495. *Equal contribution. Selected for editorial commentary in "AJHG Editor's Corner."
Functionally oriented analysis of cardiometabolic traits in a trans-ethnic sample. Petty LE, Highland HM, Gamazon ER, Hu H, Karhade M, Chen HH, de Vries PS, et al. Human Molecular Genetics. 2019. 28(7):1212-1224. PMID: 30624610, PMCID: PMC6423424.
Bid maintains mitochondrial cristae structure and function and protects against cardiac disease in an integrative genomics study. 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 2nd, Boutaud O, Gamazon ER*, Zinkel SS*. eLife. 2018. PMID: 30281024, PMCID: PMC6234033. *Co-corresponding author.
Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation. Gamazon ER*, Segre AV*, van de Bunt M, et al. Nature Genetics. 2018. doi: 10.1038/s41588-018-0154-4. *Co-corresponding authors.
Exploring the role of low-frequency and rare exonic variants in alcohol and tobacco use. Marees AT, Hammerschlag AR, Bastarache L, de Kluiver H, Vorspan F, van den Brink W, Smit DJ, Denys D, Gamazon ER, et al. Drug and alcohol dependence. 2018. 188:94-101. PMID: 29758381.
Regulation of Insulin Receptor Pathway and Glucose Metabolism by CD36 Signaling. 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. Diabetes. 2018. 67(7):1272-1284. PMID: 29748289, PMCID: PMC6014550. Selected to be the July 2019 cover of Diabetes.
Gene and MicroRNA Perturbations of Cellular Response to Pemetrexed Implicate Biological Networks and Enable Imputation of Response in Lung Adenocarcinoma. Gamazon ER*, Trendowski MR, Wen Y, Wing C, Delaney SM, Huh W, Wong S, Cox NJ, Dolan ME*. Scientific Reports. 2018. 8(1):733. PMID:29335598, PMCID: PMC5768793. *Co-corresponding authors.
Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Flannick J, Fuchsberger C, Mahajan A, ..., Gamazon ER, et al. Scientific Data. 2017 Dec 19. doi:10.1038/sdata.2017.179. PMID: 29257133.
An ancestry-based approach for detecting interactions. Park DS, Eskin I, Kang EY, Gamazon ER, Eng C, Gignoux CR, et al. Genetic Epidemiology. 2017 Nov 8. doi: 10.1002/gepi.22087. [Epub ahead of print] PMID: 29114909.
Shared Genetic Control of Brain Activity During Sleep and Insulin Secretion: A Laboratory-Based Family Study. Morselli LL, Gamazon ER, Tasali E, et al. Diabetes. 2017 Oct 30. pii: db161229. doi: 10.2337/db16-1229. [Epub ahead of print] PMID: 29084784.
Genetic effects on gene expression across human tissues. GTEx Consortium. Nature. 2017 Oct 11;550(7675):204-213. doi: 10.1038/nature24277.
Evidence of selection on splicing-associated loci in human populations and relevance to disease loci mapping. Gamazon ER, Konkashbaev A, Derks EM, Cox NJ, Lee Y. Scientific Reports. 2017. 7(1):5980. PMID: 28729732, PMCID: PMC5519721.
Comparison of Breast Cancer Molecular Features and Survival by African and European Ancestry in The Cancer Genome Atlas. 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. JAMA Oncol. 2017 May 4. doi: 10.1001/jamaoncol.2017.0595. [Epub ahead of print] PMID: 28472234.
Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer. Dolan ME, El Charif O, Wheeler HE, Gamazon ER, Ardeshir-Rouhani-Fard S, et al. Clin Cancer Res. 2017 Oct 1;23(19):5757-5768. doi: 10.1158/1078-0432.CCR-16-3224. Epub 2017 Jun 13. PMID: 28611204.
Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record. Wei WQ, Bastarache LA, Carroll RJ, Marlo JE, Osterman TJ, Gamazon ER, Cox NJ, Roden DM, Denny JC. PLoS One. 2017 Jul 7;12(7):e0175508. doi: 10.1371/journal.pone.0175508. eCollection 2017. PMID: 28686612.
A Low-Frequency Inactivating Akt2 Variant Enriched in the Finnish Population is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. 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, et al. Diabetes. 2017 Mar 24. pii: db161329. doi: 10.2337/db16-1329. [Epub ahead of print] PMID: 28341696.
The Relation Between Inflation in Type-I and Type-II Error Rate and Population Divergence in Genome-Wide Association Analysis of Multi-Ethnic Populations. Derks EM, Zwinderman AH, Gamazon ER. Behav Genet. 2017 May;47(3):360-368. doi: 10.1007/s10519-017-9837-3. Epub 2017 Feb 10. PMID: 28185111.
Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma. Hulur I, Skol AD, Gamazon ER, Cox NJ, Onel K. PLoS One. 2017 Oct 3;12(10):e0185730. doi: 10.1371/journal.pone.0185730. eCollection 2017. PMID: 28973033.
Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans. Hernandez W, Gamazon ER, Aquino-Michaels K, Smithberger E, O’Brien TJ, Harralson AF, Tuck M, Barbour A, Cavallari LH, Perera MA. J Thromb Haemost. 2017 Apr;15(4):735-743. doi: 10.1111/jth.13639. Epub 2017 Mar 25. PMID: 28135054.
Variants in WFS1 and other Mendelian deafness genes are associated with cisplatin-associated ototoxicity. Wheeler HE, Gamazon ER, Frisina R, Perez-Cervantes C, El Charif O, Mapes B, Fossa SD, Feldman D, Hamilton R, Vaughn DJ, Beard C, Fung C, Kollmannsberger C, Kim J, Mushiroda T, Kubo M, Ardeshir-Rouhani-Fard S, Einhorn LH, Cox N, Dolan ME, Travis L. Clin Cancer Res. 2016 Dec 30. pii: clincanres.2809.2016. doi: 10.1158/1078-0432.CCR-16-2809. [Epub ahead of print] PMID: 28039263.
Consistency in large pharmacogenomic studies. Geeleher P, Gamazon ER, Seoighe C, Cox NJ, Huang RS. Nature. 2016 December 1. doi: 10.1038/nature19838. PMID: 27905415.
The genetic architecture of type 2 diabetes. Fuchsberger C, Flannick J, Teslovich TM, Mahajan A, Agarwala V, Gaulton KJ, Ma C, Fontanillas P, Moutsianas L, McCarthy DJ, Rivas MA, Perry JR, Sim X, Blackwell TW, Robertson NR, Rayner NW, Cingolani P, Locke AE, Tajes JF, Highland HM, Dupuis J, Chines PS, Lindgren CM, Hartl C, Jackson AU, Chen H, Huyghe JR, van de Bunt M, Pearson RD, Kumar A, Müller-Nurasyid M, Grarup N, Stringham HM, Gamazon ER, Lee J, Chen Y, Scott RA, Below JE, Chen P, Huang J, Go MJ, Stitzel ML, Pasko D, Parker SC, Varga TV, Green T, Beer NL, et al. Nature. 2016 Jul 11. doi: 10.1038/nature18642. [Epub ahead of print]. PMID: 27398621. Nature News. Selected for F1000.
Genome-wide association study identifies pharmacogenomic loci linked with specific antihypertensive drug treatment and new-onset diabetes. Chang SW, McDonough CW, Gong Y, Johnson TA, Tsunoda T, Gamazon ER, Perera MA, et al. Pharmacogenomics J. 2016 Sep 27. doi: 10.1038/tpj.2016.67. [Epub ahead of print]. PMID: 27670767.
STAMS: STRING-assisted module search for genome wide association studies and application to autism. Hillenmeyer S, Davis LK, Gamazon ER, Cook EH, et al. Bioinformatics. 2016 Aug 19. pii: btw530. [Epub ahead of print]. PMID: 27542772.
Genome-wide Association Studies in Women of African Ancestry Identified 3q26.21 as a Novel Susceptibility Locus for Estrogen Receptor Negative Breast Cancer. 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, et al. Human Molecular Genetics. 2016 Sep 4. pii: ddw305. [Epub ahead of print]. PMID: 27594435.
Transcriptional regulation of PNPLA3 and its impact on susceptibility to nonalcoholic fatty liver Disease (NAFLD) in humans. Liu W, Anstee QM, Wang X, Gawrieh S, Gamazon ER, Athinarayanan S, Liu YL, Darlay R, Cordell HJ, Daly AK, Day CP, Chalasani N. Aging. 2016 Oct 13. doi: 10.18632/aging.101067. PMID: 27744419.
Differential expression of systemic inflammatory mediators in amputees with chronic residual limb pain. Chamessian A, Van de Ven T, Buchheit T, Hsia HL, McDuffie M, Gamazon ER, Walsh C, Bruehl S, Buckenmaier C’ 3rd, Shaw A. Pain. 2016 Sep 23. [Epub ahead of print]. PMID: 27682210.
Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx. Wang J, Gamazon ER, Pierce BL, Stranger BE, Im HK, et al. American Journal of Human Genetics. 2016 Mar 29. pii: S0002-9297(16)00071-9. doi: 10.1016/j.ajhg.2016.02.020. [Epub ahead of print] PMID: 27040689.
Novel genetic predictors of venous thromboembolism risk in African Americans. Hernandez W, Gamazon ER, Smithberger E, O’Brien TJ, Harralson AF, Tuck M, Barbour A, Kittles RA, Cavallari LH, Perera MA. Blood. 2016 Feb 17. pii: blood-2015-09-668525. [Epub ahead of print] PMID: 26888256. Commentary. NIH Feature Article.
A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Hungate EA, Vora SR, Gamazon ER, Moriyama T, Best T, Hulur I, Lee Y, et al. Nature Communications. 2016 Feb 12;7:10635. doi: 10.1038/ncomms10635. PMID: 26868379.
Alternative Splicing and Genome Evolution. Gamazon ER. (Jan 2016) In: Encyclopedia of Life Sciences (eLS). John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0026311]
Transcriptomic variation of pharmacogenes in multiple human tissues and lymphoblastoid cell lines. Chhibber A*, French CE*, Yee SW*, Gamazon ER*, Theusch E, Qin X, Webb A, Papp AC, Wang A, Simmons CQ, Konkashbaev A, Chaudhry AS, Mitchel K, Stryke D, Ferrin TE, Weiss ST, Kroetz DL, et al. Pharmacogenomics Journal. 2016;ahead of print. PMID: 26856248. *Contributed equally.
Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. Below JE, Parra EJ, Gamazon ER, Torres J, Krithika S, Candille S, Lu Y, Manichakul A, et al. Scientific Reports. 2016 Jan 19;6:19429. doi: 10.1038/srep19429. PMID: 26780889.
A gene-based association method for mapping traits using reference transcriptome data. Gamazon ER, Wheeler HE, Shah KP, Mozaffari SV, Aquino-Michaels K, et al. Nature Genetics. 2015 Aug 10. doi: 10.1038/ng.3367. [Epub ahead of print] PMID: 26258848.
Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: A report from the children’s oncology group. Kutny MA, Alonzo TA, Gamazon ER, Gerbing RB, Geraghty D, Lange B, et al. Leukemia. 2015 Jul 1. doi: 10.1038/leu.2015.171. [Epub ahead of print] No abstract available. PMID: 26126966.
A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13. Evans PD, Mueller KL, Gamazon ER, Cox NJ, Tomblin JB. Genes Brain Behav. 2015 Jun;14(5):387-97. doi: 10.1111/gbb.12223. PMID: 25997078.
The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans. The GTEx Consortium. Science. 8 May 2015. 348 (6235), 648-660. Selected for front cover in Science. Selected for F1000.
The impact of human copy number variation on gene expression. Gamazon ER, Stranger BE. Briefings in Functional Genomics. 2015 Apr 27. pii: elv017. [Epub ahead of print] Review. PMID: 25922366.
SCAN database: facilitating integrative analyses of cytosine modification and expression QTL. Zhang W*, Gamazon ER*, Zhang X*, Konkashbaev A, Liu C, et al. Database (Oxford). 2015 Mar 27;2015. pii: bav025. doi: 10.1093/database/bav025. Print 2015. PMID: 25818895. *Contributed equally.
Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. Hulur I, Gamazon ER, Skol AD, Xicola RM, Llor X, Onel K, Ellis NA, Kupfer SS. BMC Genomics. 2015 Feb 27;16(1):138. [Epub ahead of print] PMID: 25766683.
MicroRNA biogenesis and cellular proliferation. Lenkala D, Gamazon ER, LaCroix B, Im HK, Huang RS. Transl Research. 2015 Feb 7. pii: S1931-5244(15)00039-0. doi: 10.1016/j.trsl.2015.01.012. [Epub ahead of print] PMID: 25724890.
Structural Architecture of SNP Effects on Complex Traits. Gamazon ER, Cox NJ, Davis LK. American Journal of Human Genetics. 2014 Oct 7. pii: S0002-9297(14)00392-9. doi: 10.1016/j.ajhg.2014.09.009. [Epub ahead of print]. PMID: 25307299. AJHG Editors’ Corner.
Cross-Tissue and Tissue-Specific eQTLs: Partitioning the Heritability of a Complex Trait. Torres JM, Gamazon ER, Parra EJ, Below JE, Valladares-Salgado A, et al. American Journal of Human Genetics. 2014 Nov 6. doi: 10.1016/j.ajhg.2014.10.001. AJHG Editors’ Corner.
Identification of a variant in KDR associated with serum VEGFR2 and pharmacodynamics of pazopanib. Maitland ML, Xu CF, Cheng YC, Kistner-Griffin E, Ryan KA, Karrison TG, Das S, Torgerson D, Gamazon E, Thomeas V, Levine MR, Wilson PA, et al. Clinical Cancer Research. 2014 Nov 19. pii: clincanres.1683.2014. [Epub ahead of print]
Genome-wide Interrogation of Longitudinal FEV1 in Asthmatic Children. Wu K*, Gamazon ER*, Im HK, Geeleher P, et al. American Journal of Respiratory and Critical Care Medicine. 2014. PMID: 25221879. *Contributed equally. Editorial highight.
Genetic variant in folate homeostasis associated with lower warfarin dose in African Americans. Daneshjou R*, Gamazon ER*, Burkley B, Cavallari LH, et al. Blood. 2014 Jul 30. pii: blood-2014-04-568436. [Epub ahead of print]. PMID: 25079360. *Contributed equally. Commentary.
Cytotoxic and Pathogenic Properties of Klebsiella oxytoca. Darby A, Lertpiriyapong K, Sarkar U, Seneviratne U, Park DS, Gamazon ER, Batchelder C, Cheung C, Buckley EM, Taylor NS, Shen Z, Tannenbaum SR, Wishnok JS, Fox JG. PLoS ONE. 2014 Jul 24;9(7):e100542. doi: 10.1371/journal.pone.0100542. eCollection 2014. PMID: 25057966.
Cross-disorder genome-wide analyses suggest a complex genetic relationship between tourette syndrome and obsessive-compulsive disorder. Yu D, Mathews CA, Scharf JM, Neale BM, Davis LK, Gamazon ER, Derks EM, Evans P, Edlund CK, et al. The American Journal of Psychiatry. 2014 Aug 26. doi: 10.1176/appi.ajp.2014.13101306. [Epub ahead of print]. PMID: 25158072.
Genetic association signal near NTN4 in Tourette Syndrome. Paschou P, Yu D, Gerber G, Evans P, Tsetsos F, Davis LK, Karagiannidis I, Chaponis J, Gamazon E, Mueller-Vahl K, Stuhrmann M, Schloegelhofer M, et al. Annals of Neurology. 2014 Jul 10. doi: 10.1002/ana.24215. [Epub ahead of print]. PMID: 25042818.
Linking the genetic architecture of cytosine modifications with human complex traits. Zhang X, Moen EL, Liu C, Mu W, Gamazon ER, Delaney SM, Wing C, Godley LA, Dolan ME, Zhang W. Human Molecular Genetics. 2014 Jun 18. pii: ddu313. [Epub ahead of print]. PMID: 24943591.
Genetic Factors Affecting Gene Transcription and Catalytic Activity of UDP-Glucuronosyltransferases in Human Liver. Liu W, Ramírez J, Gamazon ER, Mirkov S, Chen P, Wu K, et al. Human Molecular Genetics. 2014 May 30. pii: ddu268. [Epub ahead of print]. PMID: 24879639.
Poly-Omic Prediction of Complex Traits: OmicKriging. Wheeler HE, Aquino-Michaels K, Gamazon ER, Trubetskoy VV, et al. (2014), Poly-Omic Prediction of Complex Traits: OmicKriging. Genetic Epidemiology. doi: 10.1002/gepi.21808.
Integrative analyses of genetic variation, epigenetic regulation, and the transcriptome to elucidate the biology of platinum sensitivity. Lacroix B*, Gamazon ER*, Lenkala D, Im HK, Geeleher P, Ziliak D, Cox NJ, Huang RS. BMC Genomics. 2014 Apr 16;15(1):292. doi: 10.1186/1471-2164-15-292. PMID: 24739237. *Contributed equally.
Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. Hart AB, Gamazon ER, Engelhardt BE, Sklar P, Kähler AK, Hultman CM, Sullivan PF, Neale BM, Faraone SV; Psychiatric Genomics Consortium: ADHD Subgroup, et al. Proceedings of the National Academy of Sciences. 2014 Apr 7. PMID: 24711425. ScienceDaily.
Obesity-associated variants within FTO form long-range functional connections with IRX3. Smemo S, Tena JT, Kim K, Gamazon ER, Sakabe, NJ, Gómez-Marín C, ... & Nóbrega MA. Nature. 2014 Mar 12. Selected for F1000. Nature Research Highlight. ScienceDaily.
The impact of microRNA expression on cellular proliferation. Lenkala D, Lacroix B, Gamazon ER, Geeleher P, Im HK, Huang RS. Human Genetics. 2014 Mar 8. PMID: 24609542.
Integrating Cell-Based and Clinical Genome-Wide Studies to Identify Genetic Variants Contributing to Treatment Failure in Neuroblastoma Patients. Pinto N*, Gamazon ER*, Antao N, Myers J, Stark AL, Konkashbaev A, et al. Clinical Pharmacology & Therapeutics. 2014 Feb 18. doi: 10.1038/clpt.2014.37. PMID: 24549002. *Contributed equally. Selected for F1000.
A Genome-wide Association Study of Early-onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age. Ahsan H, Halpern J, Kibriya MG, Pierce BL, Tong L, Gamazon ER, McGuire V, Felberg A, Shi J, Jasmine F, et al. Cancer Epidemiology, Biomarkers & Prevention. 2014 Feb 3. PMID: 24493630.
Genomics of alternative splicing: evolution, development and pathophysiology. Gamazon ER, Stranger BE. Human Genetics. 2014 Jan 1. PMID: 24378600.
A pharmacogenetic study of aldehyde oxidase I in patients treated with XK469. Ramirez J, Kim TW, Liu W, Myers JL, Mirkov S, Owzar K, Watson D, Mulkey F, Gamazon ER, Stock W, Undevia S, Innocenti F, Ratain MJ. Pharmacogenetics and Genomics. 2013 Dec 2. PMID: 24300566.
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture. Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, et al. PLoS Genetics. 2013. PMID: 24204291.
Discovery and Functional Assessment of Gene Variants in the Vascular Endothelial Growth Factor Pathway. Paré-Brunet L, Glubb D, Evans P, Berenguer-Llergo A, Etheridge AS, Skol AD, Di Rienzo A, Duan S, Gamazon ER, Innocenti F. Human Mutation. 2013 Nov 4. doi: 10.1002/humu.22475. PMID: 24186849.
Translating pharmacogenomics discoveries into the clinic: an implementation framework. Huang RS, Gamazon ER. Genome Medicine. 2013 Oct 18;5(10):94. PMID: 24134796
Ethnicity-specific pharmacogenetics: the case of warfarin in African Americans. Hernandez W, Gamazon ER, Aquino-Michaels K, Patel S, O’Brien TJ, Harralson AF, Kittles RA, Barbour A, Tuck M, McIntosh SD, Douglas JN, Nicolae D, Cavallari LH, Perera MA. Pharmacogenomics J. 2013 Sep 10. doi: 10.1038/tpj.2013.34. PMID: 24018621.
The Genotype-Tissue Expression (GTEx) Project. The GTEx Consortium. Nature Genetics. 2013. PMID: 23715323.
Gastric colonisation with a restricted commensal microbiota replicates the promotion of neoplastic lesions by diverse intestinal microbiota in the Helicobacter pylori INS-GAS mouse model of gastric carcinogenesis. Lertpiriyapong K, Whary MT, Muthupalani S, Lofgren JL, Gamazon ER, Feng Y, Ge Z, Wang TC, Fox JG. Gut. 2013. PMID: 23812323. Selected for F1000.
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Perera MA, Cavallari LH, Limdi NA, Gamazon ER, Konkashbaev A, Daneshjou R, Pluzhnikov A, et al. Lancet. 2013. PMID: 23755828. Selected for F1000.
A genome-wide integrative study of microRNAs in human liver. Gamazon ER, Innocenti F, Wei R, Wang L, Zhang M, et al. BMC Genomics. 2013. PMID: 23758991.
(Book chapter) SCAN: a systems biology approach to pharmacogenomic discovery. Gamazon ER, et al. In “Pharmacogenomics, Methods and Protocols”. Humana Press Inc., Totowa, New Jersey, NJ, USA, 2nd edition.
Comprehensive genetic analysis of cytarabine sensitivity in a cell-based model identifies polymorphisms associated with outcome in AML patients. Gamazon ER, Lamba J, Pounds S, Stark AL, Wheeler HE, Cao X, Im HK, Mitra AK, Rubnitz JE, Ribeiro RC, Raimondi S, Campana D, Crews KR, et al. Blood. 2013 Mar 28. [Epub ahead of print]. PMID: 23538338.
Genome-wide discovery of genetic variants affecting tamoxifen sensitivity and their clinical and functional validation. Weng L, Ziliak D, Im HK, Gamazon ER, Philips S, Nguyen AT, Desta Z, Skaar TC; the Consortium on Breast Cancer Pharmacogenomics (COBRA), Flockhart DA, Huang RS. Annals of Oncology. 2013 Mar 18. [Epub ahead of print]. PMID: 23508821.
Fine-mapping of Breast Cancer Genome-wide Association Studies Loci in Women of African Ancestry Identifies Novel Susceptibility Markers. Zheng Y, Ogundiran TO, Falusi AG, Nathanson KL, John EM, Hennis AJ, Ambs S, Domchek SM, Rebbeck TR, Simon MS, Nemesure B, Wu SY, Leske MC, Odetunde A, Niu Q, Zhang J, Afolabi C, Gamazon ER, Cox NJ, Olopade CO, Olufunmilayo OI, Huo D. Carcinogenesis. 2013 Mar 8. [Epub ahead of print]. PMID: 23475944.
Trans-population Analysis of Genetic Mechanisms of Ethnic Disparities in Neuroblastoma Survival. Gamazon ER, Pinto N, Konkashbaev A, Im HK, Diskin SJ, et al. Journal of the National Cancer Institute. 2012 Dec 14. [Epub ahead of print]. PMID: 23243203.
Integrative Genomics: Quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data. Gamazon ER, Huang RS, Dolan ME, Cox NJ, Im HK. Frontiers in Statistical Genetics and Methodology. 3:202. doi: 10.3389/fgene.2012.00202. PMID: 23755062.
Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. Lee Y, Li H, Li J, Rebman E, Achour I, Regan KE, Gamazon ER, Chen JL, et al. Journal of the American Medical Informatics Association. 2013 Jan 25. PMID: 23355459.
Integration of cell line and clinical trial genome-wide analyses supports a polygenic architecture of paclitaxel-induced sensory peripheral neuropathy. Wheeler HE, Gamazon ER, Wing C, Njiaju UO, Njoku C, et al. Clinical Cancer Research. 2012 Nov 30. PMID: 23204130.
An Exponential Combination Procedure for Set-Based Association Tests in Sequencing Studies. Chen LS, Hsu L, Gamazon ER, Cox NJ, Nicolae DL. American Journal of Human Genetics. 15 November 2012. PMID: 23159251.
Small Science: High Stakes. Gamazon ER. Science. 16 November 2012: 338 (6109), 883. PMID: 23161975.
Variants Affecting Exon Skipping Contribute to Complex Traits. Lee Y, Gamazon ER, Rebman E, Lee S, Dolan ME, et al. PLoS Genetics. Epub 2012 Oct 25. PMID: 23133393.
Genetic Risk Factors for Type 2 Diabetes: A Trans-Regulatory Genetic Architecture?. Elbein SC*, Gamazon ER*, Das SK, Rasouli N, Kern PA, et al. American Journal of Human Genetics. 2012 Sep 7;91(3):466-77. PMID: 22958899. *Contributed equally.
Response to Questioning the Limits of Genomic Privacy. Im HK, Gamazon ER, Nicolae DL, Cox NJ. American Journal of Human Genetics. 2012 Sep 7;91(3):579.
Functional genetic screen of human diversity reveals that a methionine salvage enzyme regulates inflammatory cell death. Ko DC, Gamazon ER, Shukla KP, Pfuetzner RA, Whittington D, Holden TD, Brittnacher MJ, Fong C, Radey M, Ogohara C, Stark AL, Akey JM, et al. Proceedings of the National Academy of Sciences. 2012 Aug 28;109(35):E2343-52. PMID: 22837397. Issue Highlight. PNAS Commentary.
Genetic Architecture of MicroRNA Expression: Implications for the Transcriptome and Complex Traits. Gamazon ER, Ziliak D, Im HK, LaCroix B, Park DS, et al. American Journal of Human Genetics. 2012 Jun 8;90(6):1046-63. PMID: 22658545. AJHG Editors’ Corner.
The regulatory effect of miRNAs is a heritable genetic trait in humans. Geeleher P, Huang SR, Gamazon ER, Golden A, Seoighe C. BMC Genomics. PMID: 23272639.
Clinical translation of cell-based pharmacogenomic discovery. Cox NJ, Gamazon ER, Wheeler HE, Dolan ME. Clinical Pharmacology and Therapeutics. 2012 Aug 22. PMID: 22910437.
Genome-wide association study of Tourette Syndrome. Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, et al. Molecular Psychiatry. 2012 Aug 14. PMID: 22889924. ScienceDaily.
Genome-wide Association Study of Obsessive-Compulsive Disorder. Stewart SE, Yu D, Scharf JM, Neale BM, Fagerness JA, Mathews CA, Arnold PD, Evans PD, Gamazon ER, et al. Molecular Psychiatry. 2012 Aug 14. PMID: 22889921. ScienceDaily.
Genome-wide approaches in pharmacogenomics: heritability estimation and pharmacoethnicity as primary challenges. Gamazon ER*, Perera M. Pharmacogenomics. 2012 Jul;13(10):1101-4. PMID: 22909197. *Corresponding author. Invited editorial.
Campylobacter jejuni Type VI Secretion System: Roles in Adaptation to Deoxycholic Acid, Host Cell Adherence, Invasion, and In Vivo Colonization. Lertpiriyapong K, Gamazon ER, Feng Y, Park DS, Pang J, et al. PLoS ONE. 2012;7(8):e42842. PMID: 22952616.
Mixed Effects Modeling of Proliferation Rates in Cell-Based Models: Consequence for Pharmacogenomics and Cancer. Im HK, Gamazon ER, Stark AL, et al. PLoS Genetics. 2012 Feb;8(2):e1002525. PMID: 22346769.
Genetic variation that predicts platinum sensitivity reveals the role of miR-193b* in chemotherapeutic susceptibility. Ziliak D, Gamazon ER, Lacroix B, Kyung Im H, Wen Y, et al. Molecular Cancer Therapeutics. 2012 Aug 28. PMID: 22752226.
The limits of genome-wide methods for pharmacogenomic testing. Gamazon ER, Skol AD, Perera MA Pharmacogenetics and Genomics. 2012 Apr;22(4):261-72. PMID: 22344246.
On Sharing Quantitative Trait GWAS Results in an Era of Multiple-omics Data and the Limits of Genomic Privacy. Im HK, Gamazon ER, Nicolae DL, Cox NJ. American Journal of Human Genetics. 2012 Apr 6;90(4):591-8. PMID: 22463877.
Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci. Davis LK, Gamazon ER, Kistner-Griffin E, Badner JA, Liu C, et al. Molecular Autism. 2012 May 16;3(1):3. PMID 22591576.
Genetic Susceptibility to Type 2 Diabetes and Breast Cancer Risk in Women of European and African Ancestry. Hou N, Zheng Y, Gamazon ER, Ogundiran TO, Adebamowo C, et al. Cancer Epidemiol Biomarkers Prev. 2012 Mar;21(3):552-6. PMID: 22237986.
Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants. Gamazon ER, Badner JA, Cheng L, Zhang C, Zhang D, Cox NJ, Gershon ES, et al. Molecular Psychiatry. 2012 Jan 3. PMID: 22212596.
Whole-genome studies identify solute carrier transporters in cellular susceptibility to paclitaxel. Njiaju UO, Gamazon ER, Gorsic LK, Delaney SM, Wheeler HE, et al. Pharmacogenetics and Genomics. 2012 Jul;22(7):498-507. PMID: 22437668.
An eQTL-based method identifies CTTN and ZMAT3 as pemetrexed susceptibility markers. Wen Y*, Gamazon ER*, Bleibel WK, Wing C, Mi S, et al. Human Molecular Genetics. 2012 Apr 1;21(7):1470-80. PMID: 22171072. *Contributed equally.
Identification of novel germline polymorphisms governing capecitabine sensitivity. O’Donnell PH, Stark AL, Gamazon ER, Wheeler HE, McIlwee BE, et al. 2012 Aug 15;118(16):4063-73. Cancer.
The Missing Association: Sequencing-Based Discovery of Novel SNPs in VKORC1 and CYP2C9 that Affect Warfarin Dose in African Americans. Perera MA, Gamazon E, Cavallari LH, Patel SR, Poindexter S, et al. Clinical Pharmacology and Therapeutics. 2011 Mar;89(3):408-15. PMID: 21270790. Selected for F1000.
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. Gamazon ER, Nicolae DL, Cox NJ. PLoS Genetics. 2011 Feb 3;7(2):e1001292. PMID: 21304891.
Comprehensive Evaluation of the Contribution of X Chromosome Genes to Platinum Sensitivity. Gamazon ER, Im HK, O’Donnell PH, Ziliak D, Stark AL, et al. Molecular Cancer Therapeutics. 2011 Mar;10(3):472-80. PMID: 21252287.
Germline Polymorphisms Discovered via a Cell-based Genome-wide Approach Predict Platinum Response in Head and Neck Cancers. Ziliak D, O’Donnell PH, Im HK, Gamazon ER, Chen P, et al. Translational Research. 2011 May;157(5):265-72. PMID: 21497773.
Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. Innocenti F, Cooper GM, Stanaway IB, Gamazon ER, Smith JD, et al. PLoS Genetics. 2011 May;7(5):e1002078. PMID: 21637794.
Genome-Wide Association and Meta-Analysis in Populations from Starr County, Texas and Mexico City Identify Type 2 Diabetes Susceptibility Loci and Enrichment for eQTLs in Top Signals. Below JE, Gamazon ER, Morrison JV, Konkashbaev A, Pluzhnikov A, et al. Diabetologia. 2011 Aug;54(8):2047-55. PMID: 21647700.
Population differences in microRNA expression and biological implications. Huang RS, Gamazon ER, Ziliak D, Wen Y, Im HK, et al. RNA Biology. 2011 Jul 1;8(4):692-701. PMID: 21691150.
Copy number polymorphisms and anticancer pharmacogenomics. Gamazon ER, Huang RS, Dolan ME, Cox NJ. Genome Biology. 2011;12(5):R46. PMID: 21609475.
Platinum sensitivity-related germline polymorphism discovered via a cell-based approach and analysis of its association with outcome in ovarian cancer patients. Huang RS, Johnatty SE, Gamazon ER, Im HK, Ziliak D, et al. Clinical Cancer Research. 2011 Aug 15;17(16):5490-500. PMID: 21705454.
Genome-wide local ancestry approach identifies genes and variants associated with chemotherapeutic susceptibility in African Americans. Wheeler HE, Gorsic LK, Welsh M, Stark AL, Gamazon ER, et al. PLoS One. 2011;6(7):e21920. PMID: 21755009.
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations. Wheeler HE, Gamazon ER, Stark AL, O’Donnell PH, Gorsic LK, et al. The Pharmacogenomics Journal. 2011 Aug 16. PMID: 21844884.
Exprtarget: an integrative approach to predicting human microRNA targets. Gamazon ER, Im HK, Duan S, et al. PLoS One. 2010 Oct 21;5(10):e13534. PMID: 20975837.
Chemotherapeutic drug susceptibility associated SNPs are enriched in expression quantitative trait loci. Gamazon ER, Huang RS, Cox NJ, Dolan ME. Proceedings of the National Academy of Sciences. 2010 May 18;107(20):9287-92. Epub 2010 May 4. PMID: 20442332.
Population differences in platinum toxicity as a means to identify novel genetic susceptibility variants. O’Donnell PH, Gamazon E, Zhang W, Stark AL, Kistner-Griffin EO, et al. Pharmacogenet Genomics. 2010 May;20(5):327-37. PMID: 20393316.
Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS. Nicolae DL, Gamazon E, Zhang W, et al. PLoS Genetics. 2010 Apr 1;6(4):e1000888. PMID: 20369019.
PACdb: a database for cell-based pharmacogenomics. Gamazon ER, Duan S, Zhang W, Huang RS, Kistner EO, et al. Pharmacogenet Genomics. 2010 Apr;20(4):269-73. PMID: 20216476.
Comprehensive survey of SNPs in the Affymetrix exon array using the 1000 Genomes dataset. Gamazon ER, Zhang W, Dolan ME, Cox NJ. PLoS One. 2010 Feb 23;5(2):e9366. PMID: 20186275.
SCAN: SNP and copy number annotation. Gamazon ER, Zhang W, Konkashbaev A, Duan S, Kistner EO, et al. Bioinformatics. 2010 Jan 15;26(2):259-62. PMID: 19933162.
Biomolecular Systems of Disease Buried Across Multiple GWAS Unveiled by Information Theory and Ontology. Lee Y, Li J, Gamazon E, Chen JL, Tikhomirov A, et al. Proceedings of the 2010 AMIA Summit on Translational Bioinformatics.
A pharmacogene database enhanced by the 1000 Genomes Project. Gamazon ER, Zhang W, Huang RS, Dolan ME, Cox NJ. Pharmacogenet Genomics. 2009 Oct;19(10):829-32. PMID: 19745786.

Select Preprints

Gamazon ER et al. The convergence of eQTL mapping, heritability estimation and polygenic modeling: emerging spectrum of risk variation in bipolar disorder. arXiv 1303.6227 (2013).
Gamazon ER and Park DS. SNP-based heritability estimation: measurement noise, population stratification and stability. bioRxiv doi: 10.1101/040055 (2016).
Shah K, Wheeler HE, Gamazon ER, Nicolae D, et al. Genetic predictors of gene expression associated with risk of bipolar disorder. bioRxiv doi: 10.1101/043752 (2016).
Aguet F, Brown AA, Castel S, Davis JR, Mohammadi P, Segre AV, Zappala Z, Abell NS, Fresard L, Gamazon ER, Gelfand E, Gloudemans MJ, He Y, Hormozdiari F, et al. Local genetic effects on gene expression across 44 human tissues. bioRxiv doi:10.1101/074450 (2016).
Jo B, He Y, Strober BJ, Parsana P, Aguet F, Brown AA, Castel SE, Gamazon ER, Gewirtz A, Gliner G, Han B, et al. Distant regulatory effects of genetic variation in multiple human tissues. bioRxiv doi:10.1101/074419 (2016).
Gerring ZF, Gamazon ER, White A, Derks EM. An Integrative Network-based Analysis Reveals Gene Networks, Biological Mechanisms, and Novel Drug Targets in Alzheimer’s Disease. bioRxiv 853580; doi: https://doi.org/10.1101/853580 (2019).
Barbeira AN*, Bonazzola R*, Gamazon ER*, Liang Y*, Park Y*, Kim-Hellmuth S, et al. Widespread dose-dependent effects of RNA expression and splicing on complex diseases and traits. bioRxiv 814350; doi: https://doi.org/10.1101/814350 (2020). *Equal contribution.
GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. bioRxiv 787903; doi: https://doi.org/10.1101/787903 (2019).
Wang B, Gamazon ER. Towards mechanistic models of mutational effects: Deep Learning on Alzheimer’s Aβ peptide. bioRxiv 473403; doi: https://doi.org/10.1101/2021.12.19.473403 (2021).
Razavi S, Gamazon ER. Neural-Network-Directed Genetic Programmer for Discovery of Governing Equations. arXiv. doi:https://arxiv.org/abs/2203.08808 (2022).
Wang B, Zinkel SS, Gamazon ER. Mechanistic Deep Learning Framework on Cell Traits Derived from Single-Cell Mass Cytometry Data. bioRxiv 504669; doi: https://doi.org/10.1101/2022.08.22.504669 (2022).
Viñas R, Joshi CK, Georgiev D, Dumitrascu B*, Gamazon ER*, Liò P*. Hypergraph factorisation for multi-tissue gene expression imputation. bioRxiv 502211; doi: https://doi.org/10.1101/2022.07.31.502211 (2022). *Equal contribution.
Kenny TC, Khan A, Son Y, Yue L, Heissel S, Gamazon ER, Alwaseem H, Hite R, Birsoy K. Integrative genetic analysis identifies FLVCR1 as an essential component of choline transport in mammals. bioRxiv 509986; doi: https://doi.org/10.1101/2022.10.05.509986 (2022).