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The search results on this publication page are automated on a monthly schedule based on acknowledgement of NIH Common Fund award numbers and intramural awards. Therefore, this list is not an exhaustive or error-free account of the program’s publications.

Title Authors Journal PubMedID Publication Date
Quantification of population structure using correlated SNPs by shrinkage principal components. Zou, Fei; Lee, Seunggeun; Knowles, Michael R; Wright, Fred A Human heredity. 20413978 2010;
Toxicogenetics: population-based testing of drug and chemical safety in mouse models. Rusyn, Ivan; Gatti, Daniel M; Wiltshire, Timothy; Wilshire, Timothy; Kleeberger, Steven R; Threadgill, David W Pharmacogenomics 20704464 2010 Aug
Heading down the wrong pathway: on the influence of correlation within gene sets. Gatti, Daniel M; Barry, William T; Nobel, Andrew B; Rusyn, Ivan; Wright, Fred A BMC genomics 20955544 2010
DiNAMIC: a method to identify recurrent DNA copy number aberrations in tumors. Walter, Vonn; Nobel, Andrew B; Wright, Fred A Bioinformatics (Oxford, England) 21183584 2011 Mar 1
A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci. Gamazon, Eric R; Nicolae, Dan L; Cox, Nancy J PLoS genetics 21304891 2011
Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Small, Kerrin S; Hedman, Asa K; Grundberg, Elin; Nica, Alexandra C; Thorleifsson, Gudmar; Kong, Augustine; Thorsteindottir, Unnur; Shin, So-Youn; Richards, Hannah B; GIANT Consortium; MAGIC Investigators; DIAGRAM Consortium; Soranzo, Nicole; Ahmadi, Kourosh R; Lindgren, Cecilia M; Stefansson, Kari; Dermitzakis, Emmanouil T; Deloukas, Panos; Spector, Timothy D; McCarthy, Mark I; MuTHER Consortium Nature genetics 21572415 2011 Jun
Copy number polymorphisms and anticancer pharmacogenomics. Gamazon, Eric R; Huang, R Stephanie; Dolan, M Eileen; Cox, Nancy J Genome biology 21609475 2011
Phosphorylation of Spo0A by the histidine kinase KinD requires the lipoprotein med in Bacillus subtilis. Banse, Allison V; Hobbs, Errett C; Losick, Richard Journal of bacteriology 21622736 2011 Aug
Rare and common regulatory variation in population-scale sequenced human genomes. Montgomery, Stephen B; Lappalainen, Tuuli; Gutierrez-Arcelus, Maria; Dermitzakis, Emmanouil T PLoS genetics 21811411 2011 Jul
Estimation of alternative splicing variability in human populations. Gonzalez-Porta, Mar; Calvo, Miquel; Sammeth, Michael; Guigo, Roderic Genome research 22113879 2012 Mar
seeQTL: a searchable database for human eQTLs. Xia, Kai; Shabalin, Andrey A; Huang, Shunping; Madar, Vered; Zhou, Yi-Hui; Wang, Wei; Zou, Fei; Sun, Wei; Sullivan, Patrick F; Wright, Fred A Bioinformatics (Oxford, England) 22171328 2012 Feb 1
Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants. Gamazon, E R; Badner, J A; Cheng, L; Zhang, C; Zhang, D; Cox, N J; Gershon, E S; Kelsoe, J R; Greenwood, T A; Nievergelt, C M; Chen, C; McKinney, R; Shilling, P D; Schork, N J; Smith, E N; Bloss, C S; Nurnberger, J I; Edenberg, H J; Foroud, T; Koller, D L Molecular psychiatry 22212596 2013 Mar
Dissecting the regulatory architecture of gene expression QTLs. Gaffney, Daniel J; Veyrieras, Jean-Baptiste; Degner, Jacob F; Pique-Regi, Roger; Pai, Athma A; Crawford, Gregory E; Stephens, Matthew; Gilad, Yoav; Pritchard, Jonathan K Genome biology 22293038 2012
Computational tools for discovery and interpretation of expression quantitative trait loci. Wright, Fred A; Shabalin, Andrey A; Rusyn, Ivan Pharmacogenomics 22304583 2012 Feb
DNaseýýýI sensitivity QTLs are a major determinant of human expression variation. Degner, Jacob F; Pai, Athma A; Pique-Regi, Roger; Veyrieras, Jean-Baptiste; Gaffney, Daniel J; Pickrell, Joseph K; De Leon, Sherryl; Michelini, Katelyn; Lewellen, Noah; Crawford, Gregory E; Stephens, Matthew; Gilad, Yoav; Pritchard, Jonathan K Nature 22307276 2012 Feb 16
Exon-specific QTLs skew the inferred distribution of expression QTLs detected using gene expression array data. Veyrieras, Jean-Baptiste; Gaffney, Daniel J; Pickrell, Joseph K; Gilad, Yoav; Stephens, Matthew; Pritchard, Jonathan K PloS one 22359548 2012
On sharing quantitative trait GWAS results in an era of multiple-omics data and the limits of genomic privacy. Im, Hae Kyung; Gamazon, Eric R; Nicolae, Dan L; Cox, Nancy J American journal of human genetics 22463877 2012 Apr 6
Matrix eQTL: ultra fast eQTL analysis via large matrix operations. Shabalin, Andrey A Bioinformatics (Oxford, England) 22492648 2012 May 15
Reprioritizing genetic associations in hit regions using LASSO-based resample model averaging. Valdar, William; Sabourin, Jeremy; Nobel, Andrew; Holmes, Christopher C Genetic epidemiology 22549815 2012 Jul
Quantile-based permutation thresholds for quantitative trait loci hotspots. Neto, Elias Chaibub; Keller, Mark P; Broman, Andrew F; Attie, Alan D; Jansen, Ritsert C; Broman, Karl W; Yandell, Brian S Genetics 22661325 2012 Aug
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Grundberg, Elin; Small, Kerrin S; Hedman, Åsa K; Nica, Alexandra C; Buil, Alfonso; Keildson, Sarah; Bell, Jordana T; Yang, Tsun-Po; Meduri, Eshwar; Barrett, Amy; Nisbett, James; Sekowska, Magdalena; Wilk, Alicja; Shin, So-Youn; Glass, Daniel; Travers, Mary; Min, Josine L; Ring, Sue; Ho, Karen; Thorleifsson, Gudmar; Kong, Augustine; Thorsteindottir, Unnur; Ainali, Chrysanthi; Dimas, Antigone S; Hassanali, Neelam; Ingle, Catherine; Knowles, David; Krestyaninova, Maria; Lowe, Christopher E; Di Meglio, Paola; Montgomery, Stephen B; Parts, Leopold; Potter, Simon; Surdulescu, Gabriela; Tsaprouni, Loukia; Tsoka, Sophia; Bataille, Veronique; Durbin, Richard; Nestle, Frank O; O'Rahilly, Stephen; Soranzo, Nicole; Lindgren, Cecilia M; Zondervan, Krina T; Ahmadi, Kourosh R; Schadt, Eric E; Stefansson, Kari; Smith, George Davey; McCarthy, Mark I; Deloukas, Panos; Dermitzakis, Emmanouil T; Spector, Tim D; Multiple Tissue Human Expression Resource (MuTHER) Consortium Nature genetics. 22941192 2012 Oct;
Genetic risk factors for type 2 diabetes: a trans-regulatory genetic architecture? Elbein, Steven C; Gamazon, Eric R; Das, Swapan K; Rasouli, Neda; Kern, Philip A; Cox, Nancy J American journal of human genetics 22958899 2012 Sep 7
Sex-biased genetic effects on gene regulation in humans. Dimas, Antigone S; Nica, Alexandra C; Montgomery, Stephen B; Stranger, Barbara E; Raj, Towfique; Buil, Alfonso; Giger, Thomas; Lappalainen, Tuuli; Gutierrez-Arcelus, Maria; MuTHER Consortium; McCarthy, Mark I; Dermitzakis, Emmanouil T Genome research 22960374 2012 Dec
The GEM mapper: fast, accurate and versatile alignment by filtration. Marco-Sola, Santiago; Sammeth, Michael; Guigo, Roderic; Ribeca, Paolo Nature methods 23103880 2012 Dec
Variants affecting exon skipping contribute to complex traits. Lee, Younghee; Gamazon, Eric R; Rebman, Ellen; Lee, Yeunsook; Lee, Sanghyuk; Dolan, M Eileen; Cox, Nancy J; Lussier, Yves A PLoS genetics 23133393 2012
An exponential combination procedure for set-based association tests in sequencing studies. Chen, Lin S; Hsu, Li; Gamazon, Eric R; Cox, Nancy J; Nicolae, Dan L American journal of human genetics 23159251 2012 Dec 7
Controls of nucleosome positioning in the human genome. Gaffney, Daniel J; McVicker, Graham; Pai, Athma A; Fondufe-Mittendorf, Yvonne N; Lewellen, Noah; Michelini, Katelyn; Widom, Jonathan; Gilad, Yoav; Pritchard, Jonathan K PLoS genetics 23166509 2012
Integrative analysis of a cross-loci regulation network identifies App as a gene regulating insulin secretion from pancreatic islets. Tu, Zhidong; Keller, Mark P; Zhang, Chunsheng; Rabaglia, Mary E; Greenawalt, Danielle M; Yang, Xia; Wang, I-Ming; Dai, Hongyue; Bruss, Matthew D; Lum, Pek Y; Zhou, Yun-Ping; Kemp, Daniel M; Kendziorski, Christina; Yandell, Brian S; Attie, Alan D; Schadt, Eric E; Zhu, Jun PLoS genetics 23236292 2012
Trans-population analysis of genetic mechanisms of ethnic disparities in neuroblastoma survival. Gamazon, Eric R; Pinto, Navin; Konkashbaev, Anuar; Im, Hae Kyung; Diskin, Sharon J; London, Wendy B; Maris, John M; Dolan, M Eileen; Cox, Nancy J; Cohn, Susan L Journal of the National Cancer Institute 23243203 2013 Feb 20
Modeling causality for pairs of phenotypes in system genetics. Neto, Elias Chaibub; Broman, Aimee T; Keller, Mark P; Attie, Alan D; Zhang, Bin; Zhu, Jun; Yandell, Brian S Genetics 23288936 2013 Mar
Network models of genome-wide association studies uncover the topological centrality of protein interactions in complex diseases. Lee, Younghee; Li, Haiquan; Li, Jianrong; Rebman, Ellen; Achour, Ikbel; Regan, Kelly E; Gamazon, Eric R; Chen, James L; Yang, Xinan Holly; Cox, Nancy J; Lussier, Yves A Journal of the American Medical Informatics Association : JAMIA 23355459 2013 Jul-Aug
Transcriptome analyses of primitively eusocial wasps reveal novel insights into the evolution of sociality and the origin of alternative phenotypes. Ferreira, Pedro G; Patalano, Solenn; Chauhan, Ritika; Ffrench-Constant, Richard; Gabaldón, Toni; Guigó, Roderic; Sumner, Seirian Genome biology. 23442883 2013;
Marbled inflation from population structure in gene-based association studies with rare variants. Liu, Qianying; Nicolae, Dan L; Chen, Lin S Genetic epidemiology 23468125 2013 Apr
eQTL Mapping Using RNA-seq Data. Sun, Wei; Hu, Yijuan Statistics in biosciences 23667399 2013 May 1
A statistical framework for joint eQTL analysis in multiple tissues. Flutre, Timothee; Wen, Xiaoquan; Pritchard, Jonathan; Stephens, Matthew PLoS genetics 23671422 2013 May
The Genotype-Tissue Expression (GTEx) project. Lonsdale J, Thomas J, Salvatore M, Phillips R, Lo E, Shad S, Hasz R, Walters G, Garcia F, Young N, Foster B, Moser M, Karasik E, Gillard B, Ramsey K, Sullivan S, Bridge J, Magazine H, Syron J, Fleming J, Siminoff L, Traino H, et al. Nat Genet 23715323 2013 May 29
JOINT AND INDIVIDUAL VARIATION EXPLAINED (JIVE) FOR INTEGRATED ANALYSIS OF MULTIPLE DATA TYPES. Lock, Eric F; Hoadley, Katherine A; Marron, J S; Nobel, Andrew B The annals of applied statistics 23745156 2013 Mar 1
Validation of Monte Carlo estimates of three-class ideal observer operating points for normal data. Edwards, Darrin C Academic radiology 23747155 2013 Jul
Integrative genomics: quantifying significance of phenotype-genotype relationships from multiple sources of high-throughput data. Gamazon, Eric R; Huang, R Stephanie; Dolan, M Eileen; Cox, Nancy J; Im, Hae Kyung Frontiers in genetics. 23755062 2012;
A genome-wide integrative study of microRNAs in human liver. Gamazon, Eric R; Innocenti, Federico; Wei, Rongrong; Wang, Libo; Zhang, Min; Mirkov, Snezana; Ramirez, Jacqueline; Huang, R Stephanie; Cox, Nancy J; Ratain, Mark J; Liu, Wanqing BMC genomics 23758991 2013
DNase I-hypersensitive exons colocalize with promoters and distal regulatory elements. Mercer, Tim R; Edwards, Stacey L; Clark, Michael B; Neph, Shane J; Wang, Hao; Stergachis, Andrew B; John, Sam; Sandstrom, Richard; Li, Guoliang; Sandhu, Kuljeet S; Ruan, Yijun; Nielsen, Lars K; Mattick, John S; Stamatoyannopoulos, John A Nature genetics 23793028 2013 Aug
SCAN: a systems biology approach to pharmacogenomic discovery. Gamazon, Eric R; Huang, R Stephanie; Cox, Nancy J Methods in molecular biology (Clifton, N.J.) 23824859 2013
Gene expression changes with age in skin, adipose tissue, blood and brain. Glass, Daniel; Viñuela, Ana; Davies, Matthew N; Ramasamy, Adaikalavan; Parts, Leopold; Knowles, David; Brown, Andrew A; Hedman, Asa K; Small, Kerrin S; Buil, Alfonso; Grundberg, Elin; Nica, Alexandra C; Di Meglio, Paola; Nestle, Frank O; Ryten, Mina; UK Brain Expression consortium; MuTHER consortium; Durbin, Richard; McCarthy, Mark I; Deloukas, Panagiotis; Dermitzakis, Emmanouil T; Weale, Michael E; Bataille, Veronique; Spector, Tim D Genome biology. 23889843 2013;
Efficiently identifying significant associations in genome-wide association studies. Kostem, Emrah; Eskin, Eleazar Journal of computational biology : a journal of computational molecular cell biology. 24033261 2013 Oct;
Transcriptome and genome sequencing uncovers functional variation in humans. Lappalainen, Tuuli; Sammeth, Michael; Friedlander, Marc R; 't Hoen, Peter A C; Monlong, Jean; Rivas, Manuel A; Gonzalez-Porta, Mar; Kurbatova, Natalja; Griebel, Thasso; Ferreira, Pedro G; Barann, Matthias; Wieland, Thomas; Greger, Liliana; van Iterson, Ma Nature 24037378 2013 Sep 26
Reproducibility of high-throughput mRNA and small RNA sequencing across laboratories. 't Hoen, Peter A C; Friedlander, Marc R; Almlof, Jonas; Sammeth, Michael; Pulyakhina, Irina; Anvar, Seyed Yahya; Laros, Jeroen F J; Buermans, Henk P J; Karlberg, Olof; Brannvall, Mathias; GEUVADIS Consortium; den Dunnen, Johan T; van Ommen, Gert-Jan B; Gu Nature biotechnology 24037425 2013 Nov
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Battle, Alexis; Mostafavi, Sara; Zhu, Xiaowei; Potash, James B; Weissman, Myrna M; McCormick, Courtney; Haudenschild, Christian D; Beckman, Kenneth B; Shi, Jianxin; Mei, Rui; Urban, Alexander E; Montgomery, Stephen B; Levinson, Douglas F; Koller, Daphne Genome research 24092820 2013 Nov 27
Reduced burden of very large and rare CNVs in bipolar affective disorder. Grozeva, Detelina; Kirov, George; Conrad, Donald F; Barnes, Chris P; Hurles, Matthew; Owen, Michael J; O'Donovan, Michael C; Craddock, Nick Bipolar disorders. 24127788 2013 Dec;
Quantitative allelic test-a fast test for very large association studies. Lee, Sang Mee; Karrison, Theodore G; Cox, Nancy J; Im, Hae Kyung Genetic epidemiology 24185610 2013 Dec
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. Davis, Lea K; Yu, Dongmei; Keenan, Clare L; Gamazon, Eric R; Konkashbaev, Anuar I; Derks, Eske M; Neale, Benjamin M; Yang, Jian; Lee, S Hong; Evans, Patrick; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, Oscar J; Bloch PLoS genetics 24204291 2013 Oct
Epigenome-wide differences in pathology-free regions of multiple sclerosis-affected brains. Huynh, Jimmy L; Garg, Paras; Thin, Tin Htwe; Yoo, Seungyeul; Dutta, Ranjan; Trapp, Bruce D; Haroutunian, Vahram; Zhu, Jun; Donovan, Michael J; Sharp, Andrew J; Casaccia, Patrizia Nature neuroscience 24270187 2014 Jan
Type I interferon signaling genes in recurrent major depression: increased expression detected by whole-blood RNA sequencing. Mostafavi, S; Battle, A; Zhu, X; Potash, J B; Weissman, M M; Shi, J; Beckman, K; Haudenschild, C; McCormick, C; Mei, R; Gameroff, M J; Gindes, H; Adams, P; Goes, F S; Mondimore, F M; MacKinnon, D F; Notes, L; Schweizer, B; Furman, D; Montgomery, S B; Urban, A E; Koller, D; Levinson, D F Molecular psychiatry. 24296977 2014 Dec;
RNA-Seq optimization with eQTL gold standards. Ellis, Shannon E; Gupta, Simone; Ashar, Foram N; Bader, Joel S; West, Andrew B; Arking, Dan E BMC genomics 24341889 2013
Meta-analysis identifies gene-by-environment interactions as demonstrated in a study of 4,965 mice. Kang, Eun Yong; Han, Buhm; Furlotte, Nicholas; Joo, Jong Wha J; Shih, Diana; Davis, Richard C; Lusis, Aldons J; Eskin, Eleazar PLoS genetics 24415945 2014 Jan
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, Habibul; Halpern, Jerry; Kibriya, Muhammad G; Pierce, Brandon L; Tong, Lin; Gamazon, Eric; McGuire, Valerie; Felberg, Anna; Shi, Jianxin; Jasmine, Farzana; Roy, Shantanu; Brutus, Rachelle; Argos, Maria; Melkonian, Stephanie; Chang-Claude, Jenny; An Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 24493630 2014 Apr
Obesity-associated variants within FTO form long-range functional connections with IRX3. Smemo, Scott; Tena, Juan J; Kim, Kyoung-Han; Gamazon, Eric R; Sakabe, Noboru J; Gomez-Marin, Carlos; Aneas, Ivy; Credidio, Flavia L; Sobreira, Debora R; Wasserman, Nora F; Lee, Ju Hee; Puviindran, Vijitha; Tam, Davis; Shen, Michael; Son, Joe Eun; Vakili, Nature 24646999 2014 Mar 20
Effectively identifying regulatory hotspots while capturing expression heterogeneity in gene expression studies. Joo, Jong Wha J; Sul, Jae Hoon; Han, Buhm; Ye, Chun; Eskin, Eleazar Genome biology 24708878 2014 Apr 7
Genetic variation associated with euphorigenic effects of d-amphetamine is associated with diminished risk for schizophrenia and attention deficit hyperactivity disorder. Hart, Amy B; Gamazon, Eric R; Engelhardt, Barbara E; Sklar, Pamela; Kahler, Anna K; Hultman, Christina M; Sullivan, Patrick F; Neale, Benjamin M; Faraone, Stephen V; Psychiatric Genomics Consortium: ADHD Subgroup; de Wit, Harriet; Cox, Nancy J; Palmer, Ab Proceedings of the National Academy of Sciences of the United States of America 24711425 2014 Apr 22
Heritability and genomics of gene expression in peripheral blood. Wright, Fred A; Sullivan, Patrick F; Brooks, Andrew I; Zou, Fei; Sun, Wei; Xia, Kai; Madar, Vered; Jansen, Rick; Chung, Wonil; Zhou, Yi-Hui; Abdellaoui, Abdel; Batista, Sandra; Butler, Casey; Chen, Guanhua; Chen, Ting-Huei; D'Ambrosio, David; Gallins, Pau Nature genetics 24728292 2014 May
Validating single-cell genomics for the study of renal development. Jain, Sanjay; Noordam, Michiel J; Hoshi, Masato; Vallania, Francesco L; Conrad, Donald F Kidney international. 24759149 2014 Nov;
Guidelines for investigating causality of sequence variants in human disease. MacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; Shendure, J; Abecasis, G R; Adams, D R; Altman, R B; Antonarakis, S E; Ashley, E A; Barrett, J C; Biesecker, L G; Conrad, D F; Cooper, G M; Cox, N J; Daly, M J; Gerstein, M B; Goldstein, D B; Hirschhorn, J N; Leal, S M; Pennacchio, L A; Stamatoyannopoulos, J A; Sunyaev, S R; Valle, D; Voight, B F; Winckler, W; Gunter, C Nature. 24759409 2014 Apr 24;
Determining causality and consequence of expression quantitative trait loci. Battle, A; Montgomery, S B Human genetics 24770875 2014 Jun
Bicc1 is a genetic determinant of osteoblastogenesis and bone mineral density. Mesner, Larry D; Ray, Brianne; Hsu, Yi-Hsiang; Manichaikul, Ani; Lum, Eric; Bryda, Elizabeth C; Rich, Stephen S; Rosen, Clifford J; Criqui, Michael H; Allison, Matthew; Budoff, Matthew J; Clemens, Thomas L; Farber, Charles R The Journal of clinical investigation 24789909 2014 Jun 2
Poly-Omic Prediction of Complex Traits: OmicKriging. Wheeler, Heather E; Aquino-Michaels, Keston; Gamazon, Eric R; Trubetskoy, Vassily V; Dolan, M Eileen; Huang, R Stephanie; Cox, Nancy J; Im, Hae Kyung Genetic epidemiology 24799323 2014 May 2
Partial correlation matrix estimation using ridge penalty followed by thresholding and re-estimation. Ha, Min Jin; Sun, Wei Biometrics 24845967 2014 May 20
GWAS to Sequencing: Divergence in Study Design and Analysis. King, Christopher Ryan; Nicolae, Dan L Genes. 24879455 2014;
Allele-specific expression and eQTL analysis in mouse adipose tissue. Hasin-Brumshtein, Yehudit; Hormozdiari, Farhad; Martin, Lisa; van Nas, Atila; Eskin, Eleazar; Lusis, Aldons J; Drake, Thomas A BMC genomics 24927774 2014
Accurate viral population assembly from ultra-deep sequencing data. Mangul, Serghei; Wu, Nicholas C; Mancuso, Nicholas; Zelikovsky, Alex; Sun, Ren; Eskin, Eleazar Bioinformatics (Oxford, England) 24932001 2014 Jun 15
Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs. Zhang, Xiaoling; Gierman, Hinco J; Levy, Daniel; Plump, Andrew; Dobrin, Radu; Goring, Harald H H; Curran, Joanne E; Johnson, Matthew P; Blangero, John; Kim, Stuart K; O'Donnell, Christopher J; Emilsson, Valur; Johnson, Andrew D BMC genomics. 24973796 2014 Jun 27;
Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13. Tomlinson 4th, M Joseph; Pitsillides, Achilleas; Pickin, Rebecca; Mika, Matthew; Keene, Keith L; Hou, Xuanlin; Mychaleckyj, Josyf; Chen, Wei-Min; Concannon, Patrick; Onengut-Gumuscu, Suna Diabetes. 25008175 2014 Dec;
Putative cis-regulatory drivers in colorectal cancer. Ongen, Halit; Andersen, Claus L; Bramsen, Jesper B; Oster, Bodil; Rasmussen, Mads H; Ferreira, Pedro G; Sandoval, Juan; Vidal, Enrique; Whiffin, Nicola; Planchon, Alexandra; Padioleau, Ismael; Bielser, Deborah; Romano, Luciana; Tomlinson, Ian; Houlston, Richard S; Esteller, Manel; Orntoft, Torben F; Dermitzakis, Emmanouil T Nature. 25079323 2014 Aug 07;
Common dysregulation network in the human prefrontal cortex underlies two neurodegenerative diseases. Narayanan, Manikandan; Huynh, Jimmy L; Wang, Kai; Yang, Xia; Yoo, Seungyeul; McElwee, Joshua; Zhang, Bin; Zhang, Chunsheng; Lamb, John R; Xie, Tao; Suver, Christine; Molony, Cliona; Melquist, Stacey; Johnson, Andrew D; Fan, Guoping; Stone, David J; Schadt Molecular systems biology 25080494 2014
Transcriptome assembly and quantification from Ion Torrent RNA-Seq data. Mangul, Serghei; Caciula, Adrian; Al Seesi, Sahar; Brinza, Dumitru; M?ndoiu, Ion; Zelikovsky, Alex BMC genomics. 25082147 2014;
Identifying causal variants at loci with multiple signals of association. Hormozdiari, Farhad; Kostem, Emrah; Kang, Eun Yong; Pasaniuc, Bogdan; Eskin, Eleazar Genetics. 25104515 2014 Oct;
Identification of genetic variants associated with alternative splicing using sQTLseekeR. Monlong, Jean; Calvo, Miquel; Ferreira, Pedro G; Guigo, Roderic Nature communications. 25140736 2014;
IRBIS: a systematic search for conserved complementarity. Pervouchine, Dmitri D RNA (New York, N.Y.). 25142064 2014 Oct;
Convergence of Sample Eigenvalues, Eigenvectors, and Principal Component Scores for Ultra-High Dimensional Data. Lee, Seunggeun; Zou, Fei; Wright, Fred A Biometrika 25143634 2014 Jun
Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD. Yu, Dongmei; Mathews, Carol A; Scharf, Jeremiah M; Neale, Benjamin M; Davis, Lea K; Gamazon, Eric R; Derks, Eske M; Evans, Patrick; Edlund, Christopher K; Crane, Jacquelyn; Fagerness, Jesen A; Osiecki, Lisa; Gallagher, Patience; Gerber, Gloria; Haddad, Stephen; Illmann, Cornelia; McGrath, Lauren M; Mayerfeld, Catherine; Arepalli, Sampath; Barlassina, Cristina; Barr, Cathy L; Bellodi, Laura; Benarroch, Fortu; Berrio, Gabriel Bedoya; Bienvenu, O Joseph; Black, Donald W; Bloch, Michael H; Brentani, Helena; Bruun, Ruth D; Budman, Cathy L; Camarena, Beatriz; Campbell, Desmond D; Cappi, Carolina; Silgado, Julio C Cardona; Cavallini, Maria C; Chavira, Denise A; Chouinard, Sylvain; Cook, Edwin H; Cookson, M R; Coric, Vladimir; Cullen, Bernadette; Cusi, Daniele; Delorme, Richard; Denys, Damiaan; Dion, Yves; Eapen, Valsama; Egberts, Karin; Falkai, Peter; Fernandez, Thomas; Fournier, Eduardo; Garrido, Helena; Geller, Daniel; Gilbert, Donald L; Girard, Simon L; Grabe, Hans J; Grados, Marco A; Greenberg, Benjamin D; Gross-Tsur, Varda; Grunblatt, Edna; Hardy, John; Heiman, Gary A; Hemmings, Sian M J; Herrera, Luis D; Hezel, Dianne M; Hoekstra, Pieter J; Jankovic, Joseph; Kennedy, James L; King, Robert A; Konkashbaev, Anuar I; Kremeyer, Barbara; Kurlan, Roger; Lanzagorta, Nuria; Leboyer, Marion; Leckman, James F; Lennertz, Leonhard; Liu, Chunyu; Lochner, Christine; Lowe, Thomas L; Lupoli, Sara; Macciardi, Fabio; Maier, Wolfgang; Manunta, Paolo; Marconi, Maurizio; McCracken, James T; Mesa Restrepo, Sandra C; Moessner, Rainald; Moorjani, Priya; Morgan, Jubel; Muller, Heike; Murphy, Dennis L; Naarden, Allan L; Nurmi, Erika; Ochoa, William Cornejo; Ophoff, Roel A; Pakstis, Andrew J; Pato, Michele T; Pato, Carlos N; Piacentini, John; Pittenger, Christopher; Pollak, Yehuda; Rauch, Scott L; Renner, Tobias; Reus, Victor I; Richter, Margaret A; Riddle, Mark A; Robertson, Mary M; Romero, Roxana; Rosario, Maria C; Rosenberg, David; Ruhrmann, Stephan; Sabatti, Chiara; Salvi, Erika; Sampaio, Aline S; Samuels, Jack; Sandor, Paul; Service, Susan K; Sheppard, Brooke; Singer, Harvey S; Smit, Jan H; Stein, Dan J; Strengman, Eric; Tischfield, Jay A; Turiel, Maurizio; Valencia Duarte, Ana V; Vallada, Homero; Veenstra-VanderWeele, Jeremy; Walitza, Susanne; Wang, Ying; Weale, Mike; Weiss, Robert; Wendland, Jens R; Westenberg, Herman G M; Shugart, Yin Yao; Hounie, Ana G; Miguel, Euripedes C; Nicolini, Humberto; Wagner, Michael; Ruiz-Linares, Andres; Cath, Danielle C; McMahon, William; Posthuma, Danielle; Oostra, Ben A; Nestadt, Gerald; Rouleau, Guy A; Purcell, Shaun; Jenike, Michael A; Heutink, Peter; Hanna, Gregory L; Conti, David V; Arnold, Paul D; Freimer, Nelson B; Stewart, S Evelyn; Knowles, James A; Cox, Nancy J; Pauls, David L The American journal of psychiatry. 25158072 2015 Jan;
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. NULL Human molecular genetics. 25168388 2015 Jan 1;
Space Time Clustering and the Permutation Moments of Quadratic Form. Zhou, Yi-Hui; Mayhew, Gregory; Sun, Zhibin; Xu, Xiaolin; Zou, Fei; Wright, Fred A Stat. 25210205 2013 Jan 1;
Genome-wide interrogation of longitudinal FEV1 in children with asthma. Wu, Kehua; Gamazon, Eric R; Im, Hae Kyung; Geeleher, Paul; White, Steven R; Solway, Julian; Clemmer, George L; Weiss, Scott T; Tantisira, Kelan G; Cox, Nancy J; Ratain, Mark J; Huang, R Stephanie American journal of respiratory and critical care medicine. 25221879 2014 Sep 15;
Allelic mapping bias in RNA-sequencing is not a major confounder in eQTL studies. Panousis, Nikolaos I; Gutierrez-Arcelus, Maria; Dermitzakis, Emmanouil T; Lappalainen, Tuuli Genome biology. 25239376 2014;
Structural architecture of SNP effects on complex traits. Gamazon, Eric R; Cox, Nancy J; Davis, Lea K American journal of human genetics. 25307299 2014 Nov 6;
Comparison of the transcriptional landscapes between human and mouse tissues. Lin, Shin; Lin, Yiing; Nery, Joseph R; Urich, Mark A; Breschi, Alessandra; Davis, Carrie A; Dobin, Alexander; Zaleski, Christopher; Beer, Michael A; Chapman, William C; Gingeras, Thomas R; Ecker, Joseph R; Snyder, Michael P Proceedings of the National Academy of Sciences of the United States of America. 25413365 2014 Dec 2;
Fine-mapping additive and dominant SNP effects using group-LASSO and fractional resample model averaging. Sabourin, Jeremy; Nobel, Andrew B; Valdar, William Genetic epidemiology. 25417853 2015 Feb;
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A robust blood gene expression-based prognostic model for castration-resistant prostate cancer. Wang, Li; Gong, Yixuan; Chippada-Venkata, Uma; Heck, Matthias Michael; Retz, Margitta; Nawroth, Roman; Galsky, Matthew; Tsao, Che-Kai; Schadt, Eric; de Bono, Johann; Olmos, David; Zhu, Jun; Oh, William K BMC medicine. 26297150 2015;
Integrative analysis of RNA, translation, and protein levels reveals distinct regulatory variation across humans. Cenik, Can; Cenik, Elif Sarinay; Byeon, Gun W; Grubert, Fabian; Candille, Sophie I; Spacek, Damek; Alsallakh, Bilal; Tilgner, Hagen; Araya, Carlos L; Tang, Hua; Ricci, Emiliano; Snyder, Michael P Genome research. 26297486 2015 Nov;
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A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project. Carithers, Latarsha J; Ardlie, Kristin; Barcus, Mary; Branton, Philip A; Britton, Angela; Buia, Stephen A; Compton, Carolyn C; DeLuca, David S; Peter-Demchok, Joanne; Gelfand, Ellen T; Guan, Ping; Korzeniewski, Greg E; Lockhart, Nicole C; Rabiner, Chana A Biopreservation and biobanking 26484571 2015 Oct
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IsoDOT Detects Differential RNA-isoform Expression/Usage with respect to a Categorical or Continuous Covariate with High Sensitivity and Specificity. Sun, Wei; Liu, Yufeng; Crowley, James J; Chen, Ting-Hued; Zhou, Hua; Chu, Haitao; Huang, Shunping; Kuan, Pei-Fen; Li, Yuan; Miller, Darla R; Shaw, Ginger D; Wu, Yichao; Zhabotynsky, Vasyl; McMillan, Leonard; Zou, Fei; Sullivan, Patrick F; de Villena, Fernando Pardo-Manuel Journal of the American Statistical Association. 26617424 2015;
Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors. van de Bunt, Martijn; Manning Fox, Jocelyn E; Dai, Xiaoqing; Barrett, Amy; Grey, Caleb; Li, Lei; Bennett, Amanda J; Johnson, Paul R; Rajotte, Raymond V; Gaulton, Kyle J; Dermitzakis, Emmanouil T; MacDonald, Patrick E; McCarthy, Mark I; Gloyn, Anna L PLoS genetics. 26624892 2015 Dec;
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HaploReg v4: systematic mining of putative causal variants, cell types, regulators and target genes for human complex traits and disease. Ward, Lucas D; Kellis, Manolis Nucleic acids research 26657631 2016 Jan 04
Common variants on 17q25 and gene-gene interactions conferring risk of schizophrenia in Han Chinese population and regulating gene expressions in human brain. Guan, L; Wang, Q; Wang, L; Wu, B; Chen, Y; Liu, F; Ye, F; Zhang, T; Li, K; Yan, B; Lu, C; Su, L; Jin, G; Wang, H; Tian, H; Wang, L; Chen, Z; Wang, Y; Chen, J; Yuan, Y; Cong, W; Zheng, J; Wang, J; Xu, X; Liu, H; Xiao, W; Han, C; Zhang, Y; Jia, F; Qiao, X; Genetic REsearch on schizophrenia neTwork-China and Netherland (GREAT-CN); Zhang, D; Zhang, M; Ma, H Molecular psychiatry. 26728569 2016 09;
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An Efficient Multiple-Testing Adjustment for eQTL Studies that Accounts for Linkage Disequilibrium between Variants. Davis, Joe R; Fresard, Laure; Knowles, David A; Pala, Mauro; Bustamante, Carlos D; Battle, Alexis; Montgomery, Stephen B American journal of human genetics 26749306 2016 Jan 07
Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases. Yang, Jialiang; Huang, Tao; Petralia, Francesca; Long, Quan; Zhang, Bin; Argmann, Carmen; Zhao, Yong; Mobbs, Charles V; Schadt, Eric E; Zhu, Jun; Tu, Zhidong; GTEx Consortium Scientific reports. 26795431 2016 Jan 21;
Inter-tissue coexpression network analysis reveals DPP4 as an important gene in heart to blood communication. Long, Quan; Argmann, Carmen; Houten, Sander M; Huang, Tao; Peng, Siwu; Zhao, Yong; Tu, Zhidong; GTEx Consortium; Zhu, Jun Genome medicine 26856537 2016 Feb 09
A variant at 9p21.3 functionally implicates CDKN2B in paediatric B-cell precursor acute lymphoblastic leukaemia aetiology. Hungate, Eric A; Vora, Sapana R; Gamazon, Eric R; Moriyama, Takaya; Best, Timothy; Hulur, Imge; Lee, Younghee; Evans, Tiffany-Jane; Ellinghaus, Eva; Stanulla, Martin; Rudant, Jéremie; Orsi, Laurent; Clavel, Jacqueline; Milne, Elizabeth; Scott, Rodney J; Pui, Ching-Hon; Cox, Nancy J; Loh, Mignon L; Yang, Jun J; Skol, Andrew D; Onel, Kenan Nature communications 26868379 2016 Feb 12
Novel genetic predictors of venous thromboembolism risk in African Americans. Hernandez, Wenndy; Gamazon, Eric R; Smithberger, Erin; O'Brien, Travis J; Harralson, Arthur F; Tuck, Matthew; Barbour, April; Kittles, Rick A; Cavallari, Larisa H; Perera, Minoli A Blood. 26888256 2016 Apr 14;
Accounting for Population Structure in Gene-by-Environment Interactions in Genome-Wide Association Studies Using Mixed Models. Sul, Jae Hoon; Bilow, Michael; Yang, Wen-Yun; Kostem, Emrah; Furlotte, Nick; He, Dan; Eskin, Eleazar PLoS genetics 26943367 2016 Mar
Molecular insights into the OGG1 gene, a cancer risk modifier in BRCA1 and BRCA2 mutations carriers. Benitez-Buelga, Carlos; Vaclová, Tereza; Ferreira, Sofia; Urioste, Miguel; Inglada-Perez, Lucia; Soberón, Nora; Blasco, Maria A; Osorio, Ana; Benitez, Javier Oncotarget. 27015555 2016 May 03;
Sparse PCA corrects for cell type heterogeneity in epigenome-wide association studies. Rahmani, Elior; Zaitlen, Noah; Baran, Yael; Eng, Celeste; Hu, Donglei; Galanter, Joshua; Oh, Sam; Burchard, Esteban G; Eskin, Eleazar; Zou, James; Halperin, Eran Nature methods. 27018579 2016 May;
Multiple testing correction in linear mixed models. Joo, Jong Wha J; Hormozdiari, Farhad; Han, Buhm; Eskin, Eleazar Genome biology 27039378 2016 Apr 01
Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx. Wang, Jiebiao; Gamazon, Eric R; Pierce, Brandon L; Stranger, Barbara E; Im, Hae Kyung; Gibbons, Robert D; Cox, Nancy J; Nicolae, Dan L; Chen, Lin S American journal of human genetics. 27040689 2016 Apr 7;
RNA splicing is a primary link between genetic variation and disease. Li, Yang I; van de Geijn, Bryce; Raj, Anil; Knowles, David A; Petti, Allegra A; Golan, David; Gilad, Yoav; Pritchard, Jonathan K Science (New York, N.Y.). 27126046 2016 Apr 29;
Functional Characterization of DNA Methylation in the Oligodendrocyte Lineage. Moyon, Sarah; Huynh, Jimmy L; Dutta, Dipankar; Zhang, Fan; Ma, Dan; Yoo, Seungyeul; Lawrence, Rebecca; Wegner, Michael; John, Gareth R; Emery, Ben; Lubetzki, Catherine; Franklin, Robin J M; Fan, Guoping; Zhu, Jun; Dupree, Jeffrey L; Casaccia, Patrizia Cell reports. 27149841 2016 Apr 13;
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A human-specific AS3MT isoform and BORCS7 are molecular risk factors in the 10q24.32 schizophrenia-associated locus. Li, Ming; Jaffe, Andrew E; Straub, Richard E; Tao, Ran; Shin, Joo Heon; Wang, Yanhong; Chen, Qiang; Li, Chao; Jia, Yankai; Ohi, Kazutaka; Maher, Brady J; Brandon, Nicholas J; Cross, Alan; Chenoweth, Joshua G; Hoeppner, Daniel J; Wei, Huijun; Hyde, Thomas M; McKay, Ronald; Kleinman, Joel E; Weinberger, Daniel R Nature medicine. 27158905 2016 06;
Characterization of Expression Quantitative Trait Loci in Pedigrees from Colombia and Costa Rica Ascertained for Bipolar Disorder. Peterson, Christine B; Service, Susan K; Jasinska, Anna J; Gao, Fuying; Zelaya, Ivette; Teshiba, Terri M; Bearden, Carrie E; Cantor, Rita M; Reus, Victor I; Macaya, Gabriel; López-Jaramillo, Carlos; Bogomolov, Marina; Benjamini, Yoav; Eskin, Eleazar; Coppola, Giovanni; Freimer, Nelson B; Sabatti, Chiara PLoS genetics 27176483 2016 05
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Telomere length measurement by a novel Luminex-based assay: a blinded comparison to Southern blot. Pierce, Brandon L; Jasmine, Farzana; Roy, Shantanu; Zhang, Chenan; Aviv, Abraham; Hunt, Steven C; Ahsan, Habibul; Kibriya, Muhammad G International journal of molecular epidemiology and genetics. 27186324 2016;
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Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. Wong, Sunnie Yan-Wai; Beamer, Lesa J; Gadomski, Therese; Honzik, Tomas; Mohamed, Miski; Wortmann, Saskia B; Brocke Holmefjord, Katja S; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Ackermann, Amanda; Stanley, Charles A; Rymen, Da The Journal of pediatrics. 27206562 2016 Aug;
Efficient Integrative Multi-SNP Association Analysis via Deterministic Approximation of Posteriors. Wen, Xiaoquan; Lee, Yeji; Luca, Francesca; Pique-Regi, Roger American journal of human genetics. 27236919 2016 Jun 2;
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Sex-Specific and Time-Varying Associations Between Cigarette Smoking and Telomere Length Among Older Adults. Zhang, Chenan; Lauderdale, Diane S; Pierce, Brandon L American journal of epidemiology. 27856448 2016 Dec 15;
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Integrating GWAS and Co-expression Network Data Identifies Bone Mineral Density Genes SPTBN1 and MARK3 and an Osteoblast Functional Module. Calabrese, Gina M; Mesner, Larry D; Stains, Joseph P; Tommasini, Steven M; Horowitz, Mark C; Rosen, Clifford J; Farber, Charles R Cell systems. 27866947 2017 Jan 25;
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Genomic Characterization of Metformin Hepatic Response. Luizon, Marcelo R; Eckalbar, Walter L; Wang, Yao; Jones, Stacy L; Smith, Robin P; Laurance, Megan; Lin, Lawrence; Gallins, Paul J; Etheridge, Amy S; Wright, Fred; Zhou, Yihui; Molony, Cliona; Innocenti, Federico; Yee, Sook Wah; Giacomini, Kathleen M; Ahit PLoS genetics. 27902686 2016 Nov;
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A tiered, Bayesian approach to estimating of population variability for regulatory decision-making. Chiu, Weihsueh A; Wright, Fred A; Rusyn, Ivan ALTEX. 27960008 2016 Dec 13;
Targeted bisulfite sequencing of the dynamic DNA methylome. Ziller, Michael J; Stamenova, Elena K; Gu, Hongcang; Gnirke, Andreas; Meissner, Alexander Epigenetics & chromatin. 27980681 2016;
Variants in WFS1 and other Mendelian deafness genes are associated with cisplatin-associated ototoxicity. Wheeler, Heather E; Gamazon, Eric R; Frisina, Robert; Perez-Cervantes, Carlos; El Charif, Omar; Mapes, Brandon; Fossa, Sophie D; Feldman, Darren; Hamilton, Robert; Vaughn, David J; Beard, Clair; Fung, Chunkit; Kollmannsberger, Christian; Kim, Jeri; Mushir Clinical cancer research : an official journal of the American Association for Cancer Research. 28039263 2016 Dec 30;
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Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice. Carrat, Gaelle R; Hu, Ming; Nguyen-Tu, Marie-Sophie; Chabosseau, Pauline; Gaulton, Kyle J; van de Bunt, Martijn; Siddiq, Afshan; Falchi, Mario; Thurner, Matthias; Canouil, Mickaël; Pattou, Francois; Leclerc, Isabelle; Pullen, Timothy J; Cane, Matthew C; P American journal of human genetics. 28132686 2017 Feb 02;
Integrated analysis of genetic variation and gene expression reveals novel variant for increased warfarin dose requirement in African Americans. Hernandez, W; Gamazon, E R; Aquino-Michaels, K; Smithberger, E; O'Brien, T J; Harralson, A F; Tuck, M; Barbour, A; Cavallari, L H; Perera, M A Journal of thrombosis and haemostasis : JTH. 28135054 2017 04;
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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, E M; Zwinderman, A H; Gamazon, E R Behavior genetics. 28185111 2017 May;
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A genome-wide association study yields five novel thyroid cancer risk loci. Gudmundsson, Julius; Thorleifsson, Gudmar; Sigurdsson, Jon K; Stefansdottir, Lilja; Jonasson, Jon G; Gudjonsson, Sigurjon A; Gudbjartsson, Daniel F; Masson, Gisli; Johannsdottir, Hrefna; Halldorsson, Gisli H; Stacey, Simon N; Helgason, Hannes; Sulem, Patr Nature communications. 28195142 2017 Feb 14;
Pathway-wide association study identifies five shared pathways associated with schizophrenia in three ancestral distinct populations. Liu, C; Bousman, C A; Pantelis, C; Skafidas, E; Zhang, D; Yue, W; Everall, I P Translational psychiatry. 28221366 2017 Feb 21;
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Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy. Kernohan, Kristin D; Frésard, Laure; Zappala, Zachary; Hartley, Taila; Smith, Kevin S; Wagner, Justin; Xu, Hongbin; McBride, Arran; Bourque, Pierre R; Consortium, Care Rare Canada; Bennett, Steffany A L; Dyment, David A; Boycott, Kym M; Montgomery, Stephen B; Warman Chardon, Jodi Human mutation. 28251733 2017 06;
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PML nuclear bodies contribute to the basal expression of the mTOR inhibitor DDIT4. Salsman, Jayme; Stathakis, Alex; Parker, Ellen; Chung, Dudley; Anthes, Livia E; Koskowich, Kara L; Lahsaee, Sara; Gaston, Daniel; Kukurba, Kimberly R; Smith, Kevin S; Chute, Ian C; Léger, Daniel; Frost, Laura D; Montgomery, Stephen B; Lewis, Stephen M; Es Scientific reports. 28332630 2017 Mar 23;
A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk. Manning, Alisa (see original citation for additional authors) Diabetes. 28341696 2017 Jul;
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Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci. Pashos, Evanthia E; Park, YoSon; Wang, Xiao; Raghavan, Avanthi; Yang, Wenli; Abbey, Deepti; Peters, Derek T; Arbelaez, Juan; Hernandez, Mayda; Kuperwasser, Nicolas; Li, Wenjun; Lian, Zhaorui; Liu, Ying; Lv, Wenjian; Lytle-Gabbin, Stacey L; Marchadier, Dawn H; Rogov, Peter; Shi, Jianting; Slovik, Katherine J; Stylianou, Ioannis M; Wang, Li; Yan, Ruilan; Zhang, Xiaolan; Kathiresan, Sekar; Duncan, Stephen A; Mikkelsen, Tarjei S; Morrisey, Edward E; Rader, Daniel J; Brown, Christopher D; Musunuru, Kiran Cell stem cell. 28388432 2017 Apr 06;
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Reproducible RNA-seq analysis using recount2. Collado-Torres, Leonardo; Nellore, Abhinav; Kammers, Kai; Ellis, Shannon E; Taub, Margaret A; Hansen, Kasper D; Jaffe, Andrew E; Langmead, Ben; Leek, Jeffrey T Nature biotechnology. 28398307 2017 04 11;
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Widespread Allelic Heterogeneity in Complex Traits. Hormozdiari, Farhad; Zhu, Anthony; Kichaev, Gleb; Ju, Chelsea J-T; Segrè, Ayellet V; Joo, Jong Wha J; Won, Hyejung; Sankararaman, Sriram; Pasaniuc, Bogdan; Shifman, Sagiv; Eskin, Eleazar American journal of human genetics. 28475861 2017 May 04;
Allele-specific expression reveals interactions between genetic variation and environment. Knowles, David A; Davis, Joe R; Edgington, Hilary; Raj, Anil; Favé, Marie-Julie; Zhu, Xiaowei; Potash, James B; Weissman, Myrna M; Shi, Jianxin; Levinson, Douglas F; Awadalla, Philip; Mostafavi, Sara; Montgomery, Stephen B; Battle, Alexis Nature methods. 28530654 2017 Jul;
Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve. Yang, Bo; Zhou, Wei; Jiao, Jiao; Nielsen, Jonas B; Mathis, Michael R; Heydarpour, Mahyar; Lettre, Guillaume; Folkersen, Lasse; Prakash, Siddharth; Schurmann, Claudia; Fritsche, Lars; Farnum, Gregory A; Lin, Maoxuan; Othman, Mohammad; Hornsby, Whitney; Driscoll, Anisa; Levasseur, Alexandra; Thomas, Marc; Farhat, Linda; Dubé, Marie-Pierre; Isselbacher, Eric M; Franco-Cereceda, Anders; Guo, Dong-Chuan; Bottinger, Erwin P; Deeb, G Michael; Booher, Anna; Kheterpal, Sachin; Chen, Y Eugene; Kang, Hyun Min; Kitzman, Jacob; Cordell, Heather J; Keavney, Bernard D; Goodship, Judith A; Ganesh, Santhi K; Abecasis, Gonçalo; Eagle, Kim A; Boyle, Alan P; Loos, Ruth J F; Eriksson, Per; Tardif, Jean-Claude; Brummett, Chad M; Milewicz, Dianna M; Body, Simon C; Willer, Cristen J Nature communications. 28541271 2017 May 25;
Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer. Dolan, M Eileen; El Charif, Omar; Wheeler, Heather E; Gamazon, Eric R; Ardeshir-Rouhani-Fard, Shirin; Monahan, Patrick; Feldman, Darren R; Hamilton, Robert J; Vaughn, David J; Beard, Clair J; Fung, Chunkit; Kim, Jeri; Fossa, Sophie D; Hertz, Daniel L; Mushiroda, Taisei; Kubo, Michiaki; Einhorn, Lawrence H; Cox, Nancy J; Travis, Lois B; Platinum Study Group Clinical cancer research : an official journal of the American Association for Cancer Research. 28611204 2017 Oct 01;
The association between telomere length and mortality in Bangladesh. Dean, Samantha G; Zhang, Chenan; Gao, Jianjun; Roy, Shantanu; Shinkle, Justin; Sabarinathan, Mekala; Argos, Maria; Tong, Lin; Ahmed, Alauddin; Islam, Md Tariqul; Islam, Tariqul; Rakibuz-Zaman, Muhammad; Sarwar, Golam; Shahriar, Hasan; Rahman, Mahfuzar; Yunus, Md; Graziano, Joseph H; Chen, Lin S; Jasmine, Farzana; Kibriya, Muhammad G; Ahsan, Habibul; Pierce, Brandon L Aging. 28630379 2017 Jun 15;
Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues. Zhang, Mingfeng; Lykke-Andersen, Soren; Zhu, Bin; Xiao, Wenming; Hoskins, Jason W; Zhang, Xijun; Rost, Lauren M; Collins, Irene; Bunt, Martijn van de; Jia, Jinping; Parikh, Hemang; Zhang, Tongwu; Song, Lei; Jermusyk, Ashley; Chung, Charles C; Zhu, Bin; Zhou, Weiyin; Matters, Gail L; Kurtz, Robert C; Yeager, Meredith; Jensen, Torben Heick; Brown, Kevin M; Ongen, Halit; Bamlet, William R; Murray, Bradley A; McCarthy, Mark I; Chanock, Stephen J; Chatterjee, Nilanjan; Wolpin, Brian M; Smith, Jill P; Olson, Sara H; Petersen, Gloria M; Shi, Jianxin; Amundadottir, Laufey Gut. 28634199 2017 Jun 20;
Identifying global expression patterns and key regulators in epithelial to mesenchymal transition through multi-study integration. Parsana, Princy; Amend, Sarah R; Hernandez, James; Pienta, Kenneth J; Battle, Alexis BMC cancer. 28651527 2017 Jun 26;
Female Genomics: Infertility and Overall Health. Joshi, Nikhil; Chan, Jessica L Seminars in reproductive medicine. 28658704 2017 05;
How to Map the Genetic Basis for Conditions that are Comorbid with Male Infertility. Nagirnaja, Liina; Vigh-Conrad, Katinka; Conrad, Donald F Seminars in reproductive medicine. 28658705 2017 05;
10 Years of GWAS Discovery: Biology, Function, and Translation. Visscher, Peter M; Wray, Naomi R; Zhang, Qian; Sklar, Pamela; McCarthy, Mark I; Brown, Matthew A; Yang, Jian American journal of human genetics. 28686856 2017 Jul 06;
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A Loss-of-Function Splice Acceptor Variant in IGF2 Is Protective for Type 2 Diabetes. Mercader, Josep M; Liao, Rachel G; Bell, Avery D; Dymek, Zachary; Estrada, Karol; Tukiainen, Taru; Huerta-Chagoya, Alicia; Moreno-Macías, Hortensia; Jablonski, Kathleen A; Hanson, Robert L; Walford, Geoffrey A; Moran, Ignasi; Chen, Ling; Agarwala, Vineeta; Ordoñez-Sánchez, María Luisa; Rodríguez-Guillen, Rosario; Rodríguez-Torres, Maribel; Segura-Kato, Yayoi; García-Ortiz, Humberto; Centeno-Cruz, Federico; Barajas-Olmos, Francisco; Caulkins, Lizz; Puppala, Sobha; Fontanillas, Pierre; Williams, Amy L; Bonàs-Guarch, Sílvia; Hartl, Chris; Ripke, Stephan; Diabetes Prevention Program Research Group; Tooley, Katherine; Lane, Jacqueline; Zerrweck, Carlos; Martínez-Hernández, Angélica; Córdova, Emilio J; Mendoza-Caamal, Elvia; Contreras-Cubas, Cecilia; González-Villalpando, María E; Cruz-Bautista, Ivette; Muñoz-Hernández, Liliana; Gómez-Velasco, Donaji; Alvirde, Ulises; Henderson, Brian E; Wilkens, Lynne R; Le Marchand, Loic; Arellano-Campos, Olimpia; Riba, Laura; Harden, Maegan; Broad Genomics Platform; Gabriel, Stacey; T2D-GENES Consortium; Abboud, Hanna E; Cortes, Maria L; Revilla-Monsalve, Cristina; Islas-Andrade, Sergio; Soberon, Xavier; Curran, Joanne E; Jenkinson, Christopher P; DeFronzo, Ralph A; Lehman, Donna M; Hanis, Craig L; Bell, Graeme I; Boehnke, Michael; Blangero, John; Duggirala, Ravindranath; Saxena, Richa; MacArthur, Daniel; Ferrer, Jorge; McCarroll, Steven A; Torrents, David; Knowler, William C; Baier, Leslie J; Burtt, Noel; González-Villalpando, Clicerio; Haiman, Christopher A; Aguilar-Salinas, Carlos A; Tusié-Luna, Teresa; Flannick, Jason; Jacobs, Suzanne B R; Orozco, Lorena; Altshuler, David; Florez, Jose C; SIGMA T2D Genetics Consortium Diabetes. 28838971 2017 11;
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Genome-wide association study identifies a novel locus for cannabis dependence. Agrawal, A; Chou, Y-L; Carey, C E; Baranger, D A A; Zhang, B; Sherva, R; Wetherill, L; Kapoor, M; Wang, J-C; Bertelsen, S; Anokhin, A P; Hesselbrock, V; Kramer, J; Lynskey, M T; Meyers, J L; Nurnberger, J I; Rice, J P; Tischfield, J; Bierut, L J; Degenhardt, L; Farrer, L A; Gelernter, J; Hariri, A R; Heath, A C; Kranzler, H R; Madden, P A F; Martin, N G; Montgomery, G W; Porjesz, B; Wang, T; Whitfield, J B; Edenberg, H J; Foroud, T; Goate, A M; Bogdan, R; Nelson, E C Molecular psychiatry. 29112194 2017 Nov 07;
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Genome-wide analyses characterize shared heritability among cancers and identify novel cancer susceptibility regions. Lindström, Sara; Wang, Lu; Feng, Helian; Majumdar, Arunabha; Huo, Sijia; Macdonald, James; Harrison, Tabitha; Turman, Constance; Chen, Hongjie; Mancuso, Nicholas; Bammler, Theo; Breast Cancer Association Consortium (BCAC); Gallinger, Steve; Gruber, Stephe Journal of the National Cancer Institute 36929942 2023 Jun 08
The EN-TEx resource of multi-tissue personal epigenomes & variant-impact models. Rozowsky, Joel; Gao, Jiahao; Borsari, Beatrice; Yang, Yucheng T; Galeev, Timur; Gürsoy, Gamze; Epstein, Charles B; Xiong, Kun; Xu, Jinrui; Li, Tianxiao; Liu, Jason; Yu, Keyang; Berthel, Ana; Chen, Zhanlin; Navarro, Fabio; Sun, Maxwell S; Wright, James; Chang, Justin; Cameron, Christopher J F; Shoresh, Noam; Gaskell, Elizabeth; Drenkow, Jorg; Adrian, Jessika; Aganezov, Sergey; Aguet, François; Balderrama-Gutierrez, Gabriela; Banskota, Samridhi; Corona, Guillermo Barreto; Chee, Sora; Chhetri, Surya B; Cortez Martins, Gabriel Conte; Danyko, Cassidy; Davis, Carrie A; Farid, Daniel; Farrell, Nina P; Gabdank, Idan; Gofin, Yoel; Gorkin, David U; Gu, Mengting; Hecht, Vivian; Hitz, Benjamin C; Issner, Robbyn; Jiang, Yunzhe; Kirsche, Melanie; Kong, Xiangmeng; Lam, Bonita R; Li, Shantao; Li, Bian; Li, Xiqi; Lin, Khine Zin; Luo, Ruibang; Mackiewicz, Mark; Meng, Ran; Moore, Jill E; Mudge, Jonathan; Nelson, Nicholas; Nusbaum, Chad; Popov, Ioann; Pratt, Henry E; Qiu, Yunjiang; Ramakrishnan, Srividya; Raymond, Joe; Salichos, Leonidas; Scavelli, Alexandra; Schreiber, Jacob M; Sedlazeck, Fritz J; See, Lei Hoon; Sherman, Rachel M; Shi, Xu; Shi, Minyi; Sloan, Cricket Alicia; Strattan, J Seth; Tan, Zhen; Tanaka, Forrest Y; Vlasova, Anna; Wang, Jun; Werner, Jonathan; Williams, Brian; Xu, Min; Yan, Chengfei; Yu, Lu; Zaleski, Christopher; Zhang, Jing; Ardlie, Kristin; Cherry, J Michael; Mendenhall, Eric M; Noble, William S; Weng, Zhiping; Levine, Morgan E; Dobin, Alexander; Wold, Barbara; Mortazavi, Ali; Ren, Bing; Gillis, Jesse; Myers, Richard M; Snyder, Michael P; Choudhary, Jyoti; Milosavljevic, Aleksandar; Schatz, Michael C; Bernstein, Bradley E; Guigó, Roderic; Gingeras, Thomas R; Gerstein, Mark Cell 37001506 2023 Mar 30
The origins and functional effects of postzygotic mutations throughout the human life span. Rockweiler, Nicole B; Ramu, Avinash; Nagirnaja, Liina; Wong, Wing H; Noordam, Michiel J; Drubin, Casey W; Huang, Ni; Miller, Brian; Todres, Ellen Z; Vigh-Conrad, Katinka A; Zito, Antonino; Small, Kerrin S; Ardlie, Kristin G; Cohen, Barak A; Conrad, Donald F Science (New York, N.Y.) 37053313 2023 Apr 14
Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease. Hou, Lei; Xiong, Xushen; Park, Yongjin; Boix, Carles; James, Benjamin; Sun, Na; He, Liang; Patel, Aman; Zhang, Zhizhuo; Molinie, Benoit; Van Wittenberghe, Nicholas; Steelman, Scott; Nusbaum, Chad; Aguet, François; Ardlie, Kristin G; Kellis, Manolis Nature genetics 37770633 2023 Oct
Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura. Bjornsdottir, Gyda; Chalmer, Mona A; Stefansdottir, Lilja; Skuladottir, Astros Th; Einarsson, Gudmundur; Andresdottir, Margret; Beyter, Doruk; Ferkingstad, Egil; Gretarsdottir, Solveig; Halldorsson, Bjarni V; Halldorsson, Gisli H; Helgadottir, Anna; Helga Nature genetics 37884687 2023 Nov
Human endogenous retroviruses of the HERV-K (HML-2) family are expressed in the brain of healthy individuals and modify the composition of the brain-infiltrating immune cells. Nevalainen, Tapio; Autio, Arttu; Hurme, Mikko Heliyon 37920490 2023 Nov
Adipose tissue eQTL meta-analysis reveals the contribution of allelic heterogeneity to gene expression regulation and cardiometabolic traits. Brotman, Sarah M; El-Sayed Moustafa, Julia S; Guan, Li; Broadaway, K Alaine; Wang, Dongmeng; Jackson, Anne U; Welch, Ryan; Currin, Kevin W; Tomlinson, Max; Vadlamudi, Swarooparani; Stringham, Heather M; Roberts, Amy L; Lakka, Timo A; Oravilahti, Anniina; Silva, Lilian Fernandes; Narisu, Narisu; Erdos, Michael R; Yan, Tingfen; Bonnycastle, Lori L; Raulerson, Chelsea K; Raza, Yasrab; Yan, Xinyu; Parker, Stephen C J; Kuusisto, Johanna; Pajukanta, Päivi; Tuomilehto, Jaakko; Collins, Francis S; Boehnke, Michael; Love, Michael I; Koistinen, Heikki A; Laakso, Markku; Mohlke, Karen L; Small, Kerrin S; Scott, Laura J bioRxiv : the preprint server for biology 37961277 2023 Oct 27
PICALO: principal interaction component analysis for the identification of discrete technical, cell-type, and environmental factors that mediate eQTLs. Vochteloo, Martijn; Deelen, Patrick; Vink, Britt; BIOS Consortium; Tsai, Ellen A; Runz, Heiko; Andreu-Sánchez, Sergio; Fu, Jingyuan; Zhernakova, Alexandra; Westra, Harm-Jan; Franke, Lude Genome biology 38254182 2024 Jan 22

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