Publications

Stahl Lab Publications

Selected Publications from the Stahl Lab

A near-complete list of Eli Stahl’s publications is available from my Google Scholar page.

Most relevant publications

See the Projects page for more information on our activities.

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritisStahl EA, Wegmann D, Trynka G, Gutierrez-Achury J, Do R, Voight BF, Kraft P, Chen R, Kallberg HJ, Kurreeman FA; Diabetes Genetics Replication and Meta-analysis Consortium; Myocardial Infarction Genetics Consortium, Kathiresan S, Wijmenga C, Gregersen PK, Alfredsson L, Siminovitch KA, Worthington J, de Bakker PI, Raychaudhuri S, Plenge RM. (2012)
Nat Genet. 44(5):483-9. doi: 10.1038/ng.2232. [PubMed]

A polygenic burden of rare disruptive mutations in schizophrenia
Purcell SM, JL Moran, M Fromer, D Ruderfer, N Solovieff, P Roussos, C O’Dushlaine, K Chambert, SE Bergen, A Kähler, L Duncan, E Stahl, G Genovese, E Fernández, MO Collins, NH Komiyama, JS Choudhary, PK Magnusson, E Banks, K Shakir, K Garimella, T Fennell, M DePristo, SG Grant, SJ Haggarty, S Gabriel, EM Scolnick, ES Lander, C Hultman, P Sullivan, S McCarroll, P Sklar. (2014)
Nature 506(7487): 185-90. doi:10.1038/nature12975 [PubMed]

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases
Gusev, A, SH Lee, G Trynka, H Finucane, BJ Vilhjálmsson, H Xu, C Zang, Stephan Ripke, Brendan Bulik-Sullivan, Eli Stahl, Anna K Kähler, Christina M Hultman, Shaun M Purcell, Steven A McCarroll, Mark Daly, Bogdan Pasaniuc, Patrick F Sullivan, Benjamin M Neale, Naomi R Wray, Soumya Raychaudhuri, Alkes L Price, Schizophrenia Working Group of the Psychiatric Genomics Consortium, SWE-SCZ Consortium. (2014)
The American Journal of Human Genetics 95(5): 535-552. doi: 10.1016/j.ajhg.2014.10.004 [PubMed]

Genome-wide association analysis identifies 13 new risk loci for schizophrenia
Ripke, S, O’Dushlaine C, Chambert K, Moran JL, Kähler AK, Akterin S, Bergen SE, Collins AL, Crowley JJ, Fromer M, Kim Y, Lee SH, Magnusson PK, Sanchez N, Stahl EA, Williams S, Wray NR, …, O’Donovan MC, Stefansson K, Scolnick E, Purcell S, McCarroll SA, Sklar P, Hultman CM, Sullivan PF. (2013)
Nature Genetics 45(10), 1150-1159. doi: 10.1038/ng.2742. Epub 2013 Aug 25 [PubMed]

A Role for Noncoding Variation in Schizophrenia
Roussos, P, AC Mitchell, G Voloudakis, JF Fullard, VM Pothula, J Tsang, EA Stahl, A Georgakopoulos, DM Ruderfer, A Charney, Y Okada, KA Siminovitch, J Worthington, L Padyukov, L Klareskog, PK Gregersen, RM Plenge, S Raychaudhuri, M Fromer, SM Purcell, K Brennand, NK Robakis, EE Schadt, S Akbarian, P Sklar. (2014)
Cell Reports 9(4): 1417–1429. doi:10.1016/ j.celrep.2014.10.015 [PubMed]

Genetics of rheumatoid arthritis contributes to biology and drug discovery
Okada, Y, D Wu, G Trynka, T Raj, C Terao, K Ikari, Y Kochi, K Ohmura, A Suzuki, S Yoshida, RR Graham, A Manoharan, W Ortmann, T Bhangale, JC Denny, RJ Carroll, AE Eyler, JD Greenberg, JM Kremer, DA Pappas, L Jiang, J Yin, L Ye, D Su, J Yang, G Xie, E Keystone, H Westra, T Esko, A Metspalu, X Zhou, N Gupta, D Mirel, EA Stahl, …, S Bae, J Worthington, L Padyukov, L Klareskog, PK Gregersen, S Raychaudhuri, BE Stranger, PL De Jager, L Franke, PM Visscher, MA Brown, H Yamanaka, T Mimori, A Takahashi, H Xu, TW Behrens, KA Siminovitch, S Momohara, F Matsuda, K Yamamoto, RM Plenge. (2014)
Nature 506: 376-381. doi:10.1038/nature12873 [PubMed]

Polygenic inheritance of paclitaxel-induced sensory peripheral neuropathy driven by axon outgrowth gene sets in CALGB 40101 (Alliance)
A Chhibber, J Mefford, EA Stahl, SA Pendergrass, RM Baldwin, K Owzar, M Li, EP Winer, CA Hudis, H Zembutsu, M Kubo, Y Nakamura, HL McLeod, MJ Ratain, LN Shulman, MD Ritchie, RM Plenge, JS Witte, DL Kroetz. (2014)
The pharmacogenomics journal 14(4), 336-342.

Allele-Specific Methylation Occurs at Genetic Variants Associated with Complex Disease
JN Hutchinson, T Raj, J Fagerness, E Stahl, FT Viloria, A Gimelbrant, J Seddon, M Daly, A Chess, R Plenge. (2014)
PLoS One 9(6), e98464.

Biological insights from 108 schizophrenia-associated genetic loci 
Schizophrenia Working Group of the Psychiatric Genomics Consortium. (2014)
Nature 511(7510): 421-4277. doi: 10.1038/nature13595

Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene
Okada, Y, D Diogo, JD Greenberg, F Mouassess, WAL Achkar, RS Fulton, JC Denny, N Gupta, D Mirel, S Gabriel, G Li, JM Kremer, DA Pappas, RJ Carroll, AE Eyler, G Trynka, EA Stahl, …, PL De Jager, S Raychaudhuri, J Worthington, L Padyukov, L Klareskog, KA Siminovitch, PK Gregersen, ER Mardis, T Arayssi, LA Kazkaz and RM Plenge. (2014)
PLoS One 2014 Feb 10;9(2):e87645. doi: 10.1371/journal.pone.0087645

Other Relevant Publications

Polygenic inheritance of paclitaxel-induced sensory peripheral neuropathy driven by axon outgrowth gene sets in CALGB 40101 (Alliance)
Chhibber, A, J Mefford, EA Stahl, SA Pendergrass, RM Baldwin, K Owzar, M Li, EP Winer, CA Hudis, H Zembutsu, M Kubo, Y Nakamura, HL McLeod, MJ Ratain, LN Shulman, MD Ritchie, RM Plenge, JS Witte, and DL Kroetz. (2014)
Pharmacogenomics J 14(4):336-42. doi: 10.1038/tpj.2014.2

Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol
Lange, LA, Y Hu, H Zhang, C Xue, EM Schmidt, Z Tang, C Bizon, EM Lange, JD Smith, EH Turner, G Jun, HM Kang, G Peloso, P Auer, K Li, J Flannick, J Zhang, C Fuchsberger, K Gaulton, C Lindgren, A Locke, A Manning, X Sim, MA Rivas, OL Holmen, O Gottesman, Y Lu, D Ruderfer, EA Stahl, …, KE North, AP Reiner, E Boerwinkle, BM Psaty, D Altshuler, S Kathiresan, D Lin, GP Jarvik, LA Cupples, C Kooperberg, JG Wilson, DA Nickerson, GR Abecasis, SS Rich, RP Tracy, CJ Willer. (2014)
American Journal of Human Genetics 94(2):233-45. doi: 10.1016/j.ajhg.2014.01.010

Estimation of SNP heritability from dense genotype data
Lee SH, J Yang, GB Chen, S Ripke, EA Stahl, CM Hultman, P Sklar, PM Visscher, PF Sullivan, ME Goddard, NR Wray. (2013)
Am J Hum Genet 93:1151-5. doi: 10.1016/j.ajhg.2013.10.015

Quantifying missing heritability at known GWAS loci
Gusev, A, G Bhatia, N Zaitlen, BJ Vilhjalmsson, D Diogo, EA Stahl, PK Gregersen, J Worthington, L Klareskog, S Raychaudhuri, RM Plenge, B Pasaniuc, AL Price. (2014)
PLoS genetics 9(12), e1003993. doi: 10.1371/journal.pgen.1003993 [PubMed]

Polygenic heritability estimates in pharmacogenetics: focus on asthma and related phenotypes. 
McGeachie MJ, Stahl EA, Himes BE, Pendergrass SA, Lima JJ, Irvin CG, Peters SP, Ritchie MD, Plenge RM, Tantisira KG. (2013)
Pharmacogenetic Genomics 23(6): 324-328. doi: 10.1097/FPC.0b013e3283607acf

Human Genetics in Rheumatoid Arthritis Guides a High-Throughput Drug Screen of the CD40 Signaling Pathway. 
Li G, D Diogo, D Wu, J Spoonamore, V Dancik, L Franke, F Kurreeman, EJ Rossin, G Duclos, C Hartland, X Zhou, K Li, J Liu, PL De Jager, KA Siminovitch, A Zhernakova, S Raychaudhuri, J Bowes, S Eyre, L Padyukov, PK Gregersen, J Worthington; Rheumatoid Arthritis Consortium International (RACI), N Gupta, PA Clemons, E Stahl, N Tolliday, RM Plenge. (2013)
PLoS Genet 9(5):e1003487. doi: 10.1371/journal.pgen.1003487

Crowdsourcing genetic prediction of clinical utility in the Rheumatoid Arthritis Responder Challenge. 
Plenge RM, Greenberg JD, Mangravite LM, Derry JM, Stahl EA, Coenen MJ, Barton A, Padyukov L, Klareskog L, Gregersen PK, Mariette X, Moreland LW, Bridges SL Jr, de Vries N, Huizinga TW, Guchelaar HJ; International Rheumatoid Arthritis Consortium (INTERACT), Friend SH, Stolovitzky G. (2013)
Nat Genet 45(5):468-9. doi: 10.1038/ng.2623

Genome-Wide Association Study and Gene Expression Analysis Identifies CD84 as a Predictor of Response to Etanercept Therapy in Rheumatoid Arthritis
Cui J*, EA Stahl*, S Saevarsdottir, C Miceli, D Diogo, G Trynka, T Raj, MU Mirkov, H Canhao, K Ikari, C Terao, Y Okada, S Wedrén, J Askling, H Yamanaka, S Momohara, A Taniguchi, K Ohmura, F Matsuda, T Mimori, N Gupta, M Kuchroo, AW Morgan, JD Isaacs, AG Wilson, KL Hyrich, M Herenius, ME Doorenspleet, PP Tak, JB Crusius, IE van der Horst-Bruinsma, GJ Wolbink, PL van Riel, M van de Laar, HJ Guchelaar, NA Shadick, CF Allaart, TW Huizinga, RE Toes, RP Kimberly, SL Bridges Jr, LA Criswell, LW Moreland, JE Fonseca, N de Vries, BE Stranger, PL De Jager, S Raychaudhuri, ME Weinblatt, PK Gregersen, X Mariette, A Barton, L Padyukov, MJ Coenen, EW Karlson, RM Plenge. (2013)
PLoS Genetics 9(3):e1003394. doi: 10.1371/journal.pgen.1003394

Rare, low-frequency, and common variants in the protein coding sequence of biological candidate genes from GWASs contribute to risk of rheumatoid arthritis
Diogo, D, F Kurreeman, EA Stahl, KP Liao, N Gupta, …, Consortium of Rheumatology Researchers of North America; Rheumatoid Arthritis Consortium International, Sunyaev S, Martin J, Zhernakova A, Bowes J, Eyre S, Siminovitch KA, Gregersen PK, Worthington J, Klareskog L, Padyukov L, Raychaudhuri S, Plenge RM. (2013)
American Journal of Human Genetics 92(1):15-27. doi: 10.1016/j.ajhg.2012.11.012

High density genetic mapping in rheumatoid arthritis identifies 14 new Caucasian susceptibility loci 
Eyre, S, J Bowes, D Diogo, A Lee, A Barton, P Martin, A Zhernakova, E Stahl, …, R Plenge, S Raychaudhuri, L Klareskog, PK Gregersen, J Worthington. (2012)
Nature Genetics 44(12):1336-40. doi: 10.1038/ng.2462

Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis 
Raychaudhuri, S, C Sandor, EA Stahl, J Freudenberg, H-S Lee, X Jia, L Alfredsson, L Padyukov, L Klareskog, J Worthington, K Siminovitch, S-C Bae, RM Plenge, PK Gregersen, PIW de Bakker. (2012)
Nature Genetics 44(3):291-6. doi: 10.1038/ng.1076

Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12
Kurreeman FA, Stahl EA, Okada Y, Liao K, Diogo D, Raychaudhuri S, Freudenberg J, Kochi Y, Patsopoulos NA, Gupta N, CLEAR investigators, Sandor C, Bang SY, Lee HS, Padyukov L, Suzuki A, Siminovitch K, Worthington J, Gregersen PK, Hughes LB, Reynolds RJ, Bridges SL Jr, Bae SC, Yamamoto K, Plenge RM (2012)
Am J Hum Genet 90(3):524-32. doi: 10.1016/j.ajhg.2012.01.010

Integrating autoimmune risk loci with gene expression data identifies specific pathogenic immune cell subsets
Hu, X, H Kim, EA Stahl, RM Plenge, M Daly, S Raychaudhuri. (2011)
Am J Hum Genet 89: 496-506. doi: 10.1016/j.ajhg.2011.09.002

Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records
Kurreeman, F, K Liao, L Chibnik, B Hickey, EA Stahl, …, P Szolovits, S Churchill, SN Murphy, T Cai, S Raychaudhuri, I Kohane, E Karlson, RM Plenge. (2011)
Am J Hum Genet 88(1): 57-69. doi: 10.1016/j.ajhg.2010.12.007

Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci
Zhernakova A, EA Stahl, G Trynka, S Raychaudhuri, EA Festen, …, PIW de Bakker, PK Gregersen, J Worthington, KA Siminovitch, L Klareskog, TW Huizinga, C Wijmenga, RM Plenge. (2011)
PLoS Genetics 7(2): e1002004. doi: 10.1371/journal.pgen.1002004

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
Stahl EA, Raychaudhuri S, Remmers EF, Xie G, Eyre S, Thomson BP, Li Y, Kurreeman FA, Zhernakova A, Hinks A, Guiducci C, Chen R, Alfredsson L, Amos CI, Ardlie KG; BIRAC Consortium, Barton A, Bowes J, Brouwer E, Burtt NP, Catanese JJ, Coblyn J, Coenen MJ, Costenbader KH, Criswell LA, Crusius JB, Cui J, de Bakker PI, De Jager PL, …, YEAR Consortium, Wijmenga C, Karlson EW, Toes RE, de Vries N, Begovich AB, Worthington J, Siminovitch KA, Gregersen PK, Klareskog L, Plenge RM. (2010)
Nature Genet. 42(6):508-14. doi: 10.1038/ng.582. Epub 2010 May 9. [PubMed]