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Peer-reviewed Journal Articles

  1. GTEx consortium. “Genetic effects on gene expression across human tissues.” Nature. 550, 204-213, 2017.
  2. Han Chen, Brian E Cade, Kevin J Gleason, Andrew C Bjonnes, Adrienne M Stilp, Tamar Sofer, Matthew P Conomos, Sonia Ancoli-Israel, Raanan Arens, Ali Azarbarzin, Graeme I Bell, Jennifer E Below, Sung Chun, Daniel S Evans, Ralf Ewert, Alexis C Frazier-Wood, Sina A Gharib, José Haba-Rubio, Erika W Hagen, Raphael Heinzer, David R. Hillman, W Craig Johnson, Zoltan Kutalik, Jacqueline M Lane, Emma K Larkin, Seung Ku Lee, Jingjing Liang, Jose S. Loredo, Sutapa Mukherjee, Lyle J Palmer, George J Papanicolaou, Thomas Penzel, Paul E. Peppard, Wendy S. Post, Alberto R Ramos, Ken Rice, Jerome I. Rotter, Scott A Sands, Neomi A Shah, Chol Shin, Katie L Stone, Beate Stubbe, Jae-Hoon Sul, Mehdi Tafti, Kent D Taylor, Alexander Teumer, Timothy A Thornton, Gregory J Tranah, Chaolong Wang, Heming Wang, Simon C Warby, D. Andrew Wellman, Phyllis C Zee, Craig L Hanis, Cathy C Laurie, Daniel J Gottlieb, Sanjay R Patel, Xiaofeng Zhu, Shamil R Sunyaev, Richa Saxena, Xihong Lin, and Susan Redline. “Multi-ethnic Meta-analysis Identifies RAI1 as a Possible Obstructive Sleep Apnea Related Quantitative Trait Locus in Men.” American Journal of Respiratory Cell and Molecular Biology. 2017.
  3. Dat Duong, Lisa Gai, Sagi Snir, Eun Yong Kang, Buhm Han, Jae Hoon Sul†, Eleazar Eskin†. “Applying meta-analysis to genotype-tissue expression data from multiple tissues to identify eQTLs and increase the number of eGenes.” Bioinformatics. 33(14), 2017.
  4. Alden Y. Huang, Dongmei Yu, Lea K. Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A. Chen, Lauren M. McGrath, Cornelia Illmann, Paul Sandor, Cathy L. Barr, Marco Grados, Harvey S. Singer, Markus M. Nöthen, Johannes Hebebrand, Robert A. King, Yves Dion, Guy Rouleau, Cathy L. Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R. Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J. Lyon, William M. McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R. Batterson, Renata Rizzo, Danielle C. Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A. Malaty, Michael S. Okun, Douglas W. Woods, Elliott Rees, Carlos N. Pato, Michele T. Pato, James A. Knowles, Danielle Posthuma, David L. Pauls, Nancy J. Cox, Benjamin M. Neale, Nelson B. Freimer, Peristera Paschou, Carol A. Mathews, Jeremiah M. Scharf, Giovanni Coppola, The Tourette Syndrome Association International Consortium for Genetics (TSAICG), The Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI). “Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.” Neuron. 94(6), 1101-1111, 2017.
  5. Mashaal Sohail, Olga A. Vakhrusheva, Jae Hoon Sul, Sara Pulit, Laurent Francioli, Genome of the Netherlands Consortium, Alzheimer’s disease Nueroimaging initiative, Leonard H. van den Berg, Jan H. Veldink, Paul de Bakker, Georgii A. Bazykin, Alexey S. Kondrashov, Shamil R. Sunyaev. “Negative selection in humans and fruit flies involves synergistic epistasis.” Science. 356(6337). 539-542, 2017.
  6. Farhad Hormozdiari, Martijn van de Bunt, Ayellet V. Segrè, Xiao Li, Jong Wha J. Joo, Michael Bilow, Jae Hoon Sul, Sriram Sankararaman, Bogdan Pasaniuc, Eleazar Eskin. “Colocalization of GWAS and eQTL Signals Detects Target Genes.” The American Journal of Human Genetics. 99(6), 1245-1260, 2016.
  7. Jae Hoon Sul, Brian E. Cade, Michael H. Cho, Dandi Qiao, Edwin K. Silverman, Susan Redline, Shamil Sunyaev,. “Increasing generality and power of rare variant tests utilizing extended pedigrees.” The American Journal of Human Genetics. 99(4), 846-859, 2016.
  8. Dat Duong, Jennifer Zou, Farhad Hormozdiari, Jae Hoon Sul, Jason Ernst, Buhm Han, Eleazar Eskin. “Using genomic annotations increases statistical power to detect eGenes.” Bioinformatics. 2016.
  9. Joon Seol Bae, InSong Koh, Hyun Sub Cheong, Jeong-Meen Seo, Dae-Yeon Kim, Jung-Tak Oh, Hyun- Young Kim, Kyuwhan Jung, Jae Hoon Sul, Woong-Yang Park, Jeong-Hyun Kim, Hyoung Doo Shin. “A genome-wide association analysis of chromosomal aberrations and Hirschsprung disease.” Translational Research. 188, 31-40, 2016.
  10. Buhm Han, Dat Doung, Jae Hoon Sul, Paul I. W. de Bakker, Eleazar Eskin, Soumya Raychaudhuri. “A general framework for meta-analyzing dependent studies with overlapping subjects in association mapping.” Human Molecular Genetics. 2016.
  11. Jae Hoon Sul*, Michael Bilow*, Wen-Yun Yang, Emrah Kostem, Nick Furlotte, Dan He, Eleazar Eskin. “Accounting for population structure in gene-by-environment interactions in genome-wide association studies using mixed models.” PLoS Genetics. 12(3), e1005849, 2016
  12. Jae Hoon Sul, Towfique Raj, Simone de Jong, Paul I. W. de Bakker, Soumya Raychaudhuri, Roel A. Ophoff, Barbara E. Stranger, Eleazar Eskin, Buhm Han. “Accurate and fast multiple testing correction in eQTL studies.” The American Journal of Human Genetics, 96(6), 857-868, 2015. Pubmed
  13. Zhanyong Wang, Jae Hoon Sul, Sagi Snir, Jose A. Lozano, and Eleazar Eskin. “Gene-Gene Interactions Detection Using A Two-stage Model.” Journal of Computational Biology, 22, 1-14, 2015. Pubmed
  14. Jurjen J. Luykx, Steven C. Bakker, Wouter F. Visser, Nanda Verhoeven-Duif, Jacobine E. Buizer- Voskamp, Jonas M. den Heijer, Marco P.M. Boks, Jae Hoon Sul, Eleazar Eskin, Anil P. Ori, Rita M. Cantor, Jacob Vorstman, Eric Strengman, Joseph DeYoung, Teus H. Kappen, Esther Pariama, Eric P.A. van Dongen, Paul Borgdorff, Peter Bruins, Tom J de Koning, René S. Kahn and Roel A. Ophoff. “Genome-Wide Association Study of NMDA Receptor Coagonists in Human Cerebrospinal Fluid and Plasma.” Molecular Psychiatry, 2015. Pubmed
  15. Jeong-Hyun Kim, Hyun Sub Cheong, Jae Hoon Sul, Jeong-Meen Seo, Dae-Yeon Kim, Jung-Tak Oh, Kwi-Won Park, Hyun-Young Kim, Soo-Min Jung, Kyuwhan Jung, Min Jeng Cho, Joon Seol Bae, Hyoung Doo Shin. “A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.” PLoS One 9(10): e110292, 2014. Pubmed
  16. Nongluk Plongthongkum, Kristel R. van Eijk, Simone de Jong, Tina Wang, Jae Hoon Sul, Marco P. M. Boks, Rene S. Kahn, Ho-Lim Fung, Roel A. Ophoff, Kun Zhang. “Characterization of Genome-Methylome Interactions in 22 Nuclear Pedigrees.” PLoS One 9(7): e99313, 2014. Pubmed
  17. Jong Wha J Joo, Jae Hoon Sul, Buhm Han, Chun Ye, Eleazar Eskin. “Effectively identifying regulatory hotspots while capturing expression heterogeneity in gene expression studies.” Genome Biology. 15, r61, 2014. Pubmed
  18. Cornelius A. Rietveld, Sarah E. Medland, Jaime Derringer, Jian Yang, Tõnu Esko, Nicolas W. Martin, Harm-Jan Westra, Konstantin Shakhbazov, Abdel Abdellaoui, Arpana Agrawal, Eva Albrecht, Behrooz Z. Alizadeh, Najaf Amin, John Barnard, Sebastian E. Baumeister, Kelly S. Benke, Lawrence F. Bielak, Jeffrey A. Boatman, Patricia A. Boyle, Gail Davies, Christiaan de Leeuw, Niina Eklund, Daniel S. Evans, Rudolf Ferhmann, Krista Fischer, Christian Gieger, Håkon K. Gjessing, Sara Hägg, Jennifer R. Harris, Caroline Hayward, Christina Holzapfel, Carla A. Ibrahim-Verbaas, Erik Ingelsson, Bo Jacobsson, Peter K. Joshi, Astanand Jugessur, Marika Kaakinen, Stavroula Kanoni, Juha Karjalainen, Ivana Kolcic, Kati Kristiansson, Zoltán Kutalik, Jari Lahti, Sang H. Lee, Peng Lin, Penelope A. Lind, Yongmei Liu, Kurt Lohman, Marisa Loitfelder, George McMahon, Pedro Marques Vidal, Osorio Meirelles, Lili Milani, Ronny Myhre, Marja-Liisa Nuotio, Christopher J. Oldmeadow, Katja E. Petrovic, Wouter J. Peyrot, Ozren Polašek, Lydia Quaye, Eva Reinmaa, John P. Rice, Thais S. Rizzi, Helena Schmidt, Reinhold Schmidt, Albert V. Smith, Jennifer A. Smith, Toshiko Tanaka, Antonio Terracciano, Matthijs J.H.M. van der Loos, Veronique Vitart, Henry Völzke, Jürgen Wellmann, Lei Yu, Wei Zhao, Jüri Allik, John R. Attia, Stefania Bandinelli, François Bastardot, Jonathan Beauchamp, David A. Bennett, Klaus Berger, Laura J. Bierut, Dorret I. Boomsma, Ute Bültmann, Harry Campbell, Christopher F. Chabris, Lynn Cherkas, Mina K. Chung, Francesco Cucca, Mariza de Andrade, Philip L. De Jager, Jan-Emmanuel De Neve, Ian J. Deary, George V. Dedoussis, Panos Deloukas, Maria Dimitriou, Gudny Eiriksdottir, Martin F. Elderson, Johan G. Eriksson, David M. Evans, Jessica D. Faul, Luigi Ferrucci, Melissa E. Garcia, Henrik Grönberg, Vilmundur Gudnason, Per Hall, Juliette M. Harris, Tamara B. Harris, Nicholas D. Hastie, Andrew C. Heath, Dena G. Hernandez, Wolfgang Hoffmann, Adriaan Hofman, Rolf Holle, Elizabeth G. Holliday, Jouke-Jan Hottenga, William G. Iacono, Thomas Illig, Marjo-Riitta Järvelin, Mika Kähönen, Jaakko Kaprio, Robert M. Kirkpatrick, Matthew Kowgier, Antti Latvala, Lenore J. Launer, Debbie A. Lawlor, Terho Lehtimäki, Jingmei Li, Paul Lichtenstein, Peter Lichtner, David C. Liewald, Pamela A. Madden, Patrik K.E. Magnusson, Tomi E. Mäkinen, Marco Masala, Matt McGue, Andres Metspalu, Andreas Mielck, Michael B. Miller, Grant W. Montgomery, Sutapa Mukherjee, Dale R. Nyholt, Ben A. Oostra, Lyle J. Palmer, Aarno Palotie, Brenda Penninx, Markus Perola, Patricia A. Peyser, Martin Preisig, Katri Räikkönen, Olli T. Raitakari, Anu Realo, Susan M. Ring, Samuli Ripatti, Fernando Rivadeneira, Igor Rudan, Aldo Rustichini, Veikko Salomaa, Antti-Pekka Sarin, David Schlessinger, Rodney J. Scott, Harold Snieder, Beate St Pourcain, John M. Starr, Jae Hoon Sul, Ida Surakka, Rauli Svento, Alexander Teumer, The LifeLines Cohort Study, Henning Tiemeier, Frank J.A. van Rooij, David R. Van Wagoner, Erkki Vartiainen, Jorma Viikari, Peter Vollenweider, Judith M. Vonk, Gérard Waeber, David R. Weir, H.-Erich Wichmann, Elisabeth Widen, Gonneke Willemsen, James F. Wilson, Alan F. Wright, Dalton Conley, George Davey-Smith, Lude Franke, Patrick J.F. Groenen, Albert Hofman, Magnus Johannesson, Sharon L.R. Kardia, Robert F. Krueger, David Laibson, Nicholas G. Martin, Michelle N. Meyer, Danielle Posthuma, A. Roy Thurik, , Nicholas J. Timpson, André G. Uitterlinden, Cornelia M. van Duijn, Peter M. Visscher, Daniel J. Benjamin, David Cesarini, Philipp D. Koellinger, “GWAS of 126,559 individuals identifies genetic variants associated with educational attainment.” Science. 340, 1467-1471, 2013. Pubmed
  19. Oron Navon*, Jae Hoon Sul*, Buhm Han, Lucia Conde, Paige Bracci, Jacques Riby, Christine Skibola, Eleazar Eskin, Eran Halperin, “Rare Variant Association Testing under Low-Coverage Sequencing.” Genetics. 194, 769-779, 2013. Pubmed
  20. Jae Hoon Sul*, Buhm Han*, Chun Ye*, Ted Choi, Eleazar Eskin. “Effectively identifying eQTLs from multiple tissues by combining mixed model and meta-analytic approaches.” PLoS Genetics. 9, e1003491, 2013. Pubmed
  21. Jae Hoon Sul, and Eleazar Eskin, “Mixed models can correct for population structure for genomic regions under selection.” Nature Reviews Genetics. 14, 300–300, 2013. Pubmed
  22. Jurjen J. Luykx, Steven C. Bakker, Eef Lentjes, Marjolein Neeleman, Eric Strengman, Laura Mentink, Joseph DeYoung, Simone de Jong, Jae Hoon Sul, Eleazar Eskin, Kristel van Eijk, Jessica van Setten, Jacobine E. Buizer-Voskamp, Rita M. Cantor, Ake Lu, Marjolein van Amerongen, Eric P.A. van Dongen, Peter Keijzers, T Kappen, P Borgdorff, P Bruins, E M. Derks, René S. Kahn, Roel A. Ophoff, “Genome-Wide Association Study of Monoamine Metabolite Levels in Human Cerebrospinal Fluid.” Molecular Psychiatry. 2013. Pubmed
  23. Michael B. Miller, Saonli Basu, Julie Cunningham, Eleazar Eskin, Steven M. Malone, William S. Oetting, Nicholas Schork, Jae Hoon Sul, William G. Iacono and Matt McGue, “The Minnesota Center for Twin and Family Research Genome-Wide Association Study.” Twin Research and Human Genetics. 15, 767-774, 2012. Pubmed
  24. Jae Hoon Sul, Buhm Han, and Eleazar Eskin, “Increasing Power of Groupwise Association Test with Likelihood Ratio Test. ” Journal of Computational Biology. 18, 1611-1624, 2011. Pubmed
  25. Jae Hoon Sul, Buhm Han, Dan He, and Eleazar Eskin, “An Optimal Weighted Aggregated Association Test for Identification of Rare Variants Involved in Common Diseases.” Genetics. 188, 181-8, 2011. Pubmed
  26. Hyun Min Kang*, Jae Hoon Sul*, Susan K Service, Noah A Zaitlen, Sit-yee Kong, Nelson B Freimer, Chiara Sabatti, Eleazar Eskin. “Variance component model to account for sample structure in genome-wide association studies.” Nature Genetics. 42, 348–354, 2010. Pubmed
  27. Jason L. Stein, Xue Hua, Jonathan H. Morra, Suh Lee, Derrek P. Hibar, April J. Ho, Alex D. Leow, Arthur W. Toga, Jae Hoon Sul, Hyun Min Kang, Eleazar Eskin, Andrew J. Saykin, Li Shen, Tatiana Foroud, Nathan Pankratz, Matthew J. Huentelman, David W. Craig, Jill D. Gerber, April N. Allen, Jason J. Corneveaux, Dietrich A. Stephan, Jennifer Webster, Bryan M. DeChairo, Steven G. Potkin, Clifford R. Jack Jr., Michael W. Weiner, Paul M. Thompson, and the Alzheimer’s Disease Neuroimaging Initiative. “Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer’s disease.” Neuroimage. 51, 542-554, 2010. Pubmed
  28. Paul Ginsparg, Paul Houle, Thorsten Joachims, and Jae-Hoon Sul. “Mapping Subsets of Scholarly Information.” Proceedings of the National Academy of Sciences of the USA, 10.1073, 101, 5236-5240, 2004. Pubmed

Peer-reviewed Conference Articles

  1. Zhanyong Wang, Jae Hoon Sul, Sagi Snir, Jose A. Lozano, and Eleazar Eskin, “Gene-Gene Interactions Detection Using A Two-stage Model.” In Proceedings of the Eighteenth Annual Conference on Research in Computational Molecular Biology (RECOMB-2014). Pittsburgh, USA: April 2-5, 2014.
  2. Jae Hoon Sul, Buhm Han, and Eleazar Eskin, “Increasing Power of Groupwise Association Test with Likelihood Ratio Test.” In Proceedings of the Fifteenth Annual Conference on Research in Computational Molecular Biology (RECOMB-2011). Vancouver, Canada: March 28-31, 2011. Link Paper

* Equal contribution
† Joint last author