Diverse Genome-wide Association Studies Associate the IL12/IL23 Pathway with Crohn Disease

Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles

Subramanian, A., Tamayo, P., Mootha, V. K., Mukherjee, S., Ebert, B. L., Gillette, M. A., Paulovich, A., Pomeroy, S. L., Golub, T. R., Lander, E. S., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0506580102 · Cited by 53,625

Gene Ontology: tool for the unification of biology

Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., Davis, A. P., Dolinski, K., Dwight, S. S., Eppig, J. T., et al. (2000) · Nature Genetics · doi:10.1038/75556 · Cited by 43,206

KEGG: Kyoto Encyclopedia of Genes and Genomes

Kanehisa, M. (2000) · Nucleic Acids Research · doi:10.1093/nar/28.1.27 · Cited by 37,077

PLINK: a tool set for whole-genome association and population-based linkage analyses.

Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089

KEGG: Kyoto Encyclopedia of Genes and Genomes

Ogata, H., Goto, S., Sato, K., Fujibuchi, W., Bono, H., & Kanehisa, M. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.1.29 · Cited by 31,232

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442

Nonparametric Statistical Methods

(1999) · Technometrics · doi:10.1080/00401706.1999.10485954 · Cited by 6,118

Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

Hugot, J.-P., Chamaillard, M., Zouali, H., Lesage, S., Cézard, J.-P., Belaiche, J., Almer, S., Tysk, C., O'Morain, C. A., Gassull, M., et al. (2001) · Nature · doi:10.1038/35079107 · Cited by 5,591

A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

Ogura, Y., Bonen, D. K., Inohara, N., Nicolae, D. L., Chen, F. F., Ramos, R., Britton, H., Moran, T., Karaliuskas, R., Duerr, R. H., et al. (2001) · Nature · doi:10.1038/35079114 · Cited by 5,030

Genomic Control for Association Studies

Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162

Comparison of Pathway Analysis Approaches Using Lung Cancer GWAS Data Sets

Fehringer, G., Liu, G., Briollais, L., Brennan, P., Amos, C. I., Spitz, M. R., Bickeböller, H., Wichmann, H. ‐., Risch, A., & Hung, R. J. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031816 · Cited by 45

Peripheral blood derived gene panels predict response to infliximab in rheumatoid arthritis and Crohn's disease

Meskó, B., Póliska, S., Váncsa, A., Szekanecz, Z., Palatka, K., Holló, Z., Horváth, A., Steiner, L., Zahuczky, G., Podani, J., et al. (2013) · Genome Medicine · doi:10.1186/gm463 · Cited by 44

A Novel Approach for Pathway Analysis of GWAS Data Highlights Role of BMP Signaling and Muscle Cell Differentiation in Colorectal Cancer Susceptibility

Mishra, A., & MacGregor, S. (2017) · Twin Research and Human Genetics · doi:10.1017/thg.2016.100 · Cited by 47

DNA methylation signatures of autoimmune diseases in human B lymphocytes

Zouali, M. (2020) · Clinical Immunology · doi:10.1016/j.clim.2020.108622 · Cited by 45

Comprehensive Gene- and Pathway-Based Analysis of Depressive Symptoms in Older Adults

Nho, K., Ramanan, V. K., Horgusluoglu, E., Kim, S., Inlow, M. H., Risacher, S. L., McDonald, B. C., Farlow, M. R., Foroud, T. M., Gao, S., et al. (2015) · Journal of Alzheimer’s Disease · doi:10.3233/jad-148009 · Cited by 41

PLZF Regulates CCR6 and Is Critical for the Acquisition and Maintenance of the Th17 Phenotype in Human Cells

SINGH, S. P., Zhang, H. H., Tsang, H., Gardina, P. J., Myers, T. G., Nagarajan, V., Lee, C. H., & Farber, J. M. (2015) · The Journal of Immunology · doi:10.4049/jimmunol.1401093 · Cited by 44

Genetics of inflammatory bowel diseases: A comparison between W estern and E astern perspectives

Cheon, J. H. (2012) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.12053 · Cited by 43

Multidimensional Prognostic Risk Assessment Identifies Association Between IL12B Variation and Surgery in Crohn’s Disease

Dubinsky, M. C., Kugathasan, S., Kwon, S., Haritunians, T., Wrobel, I. T., Wahbeh, G. T., Quiros, A., Bahar, R., Silber, G. H., Farrior, S., et al. (2013) · Inflammatory Bowel Diseases · doi:10.1097/mib.0b013e318281f275 · Cited by 43

Genetic variations in interleukin-12 related genes in immune-mediated diseases

van Wanrooij, R. L. J., Zwiers, A., Kraal, G., & Bouma, G. (2012) · Journal of Autoimmunity · doi:10.1016/j.jaut.2012.06.002 · Cited by 44

Large-Scale Pathway-Based Analysis of Bladder Cancer Genome-Wide Association Data from Five Studies of European Background

Menashe, I., Figueroa, J. D., García‐Closas, M., Chatterjee, N., Malats, N., Picornell, A. C., Maeder, D. L., Yang, Q., Prokunina‐Olsson, L., Wang, Z., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0029396 · Cited by 43

Ustekinumab for the treatment of Crohn’s disease: can it find its niche?

Simon, E. G., Ghosh, S. K., Iacucci, M., & Moran, G. W. (2015) · Therapeutic Advances in Gastroenterology · doi:10.1177/1756283x15618130 · Cited by 43

Infection Risk With Biologic Therapy in Patients With Inflammatory Bowel Disease

Hindryckx, P., Novak, G., Bonovas, S., Peyrin‐Biroulet, L., & Danese, S. (2017) · Clinical Pharmacology & Therapeutics · doi:10.1002/cpt.791 · Cited by 43

Network-Based Analysis of Schizophrenia Genome-Wide Association Data to Detect the Joint Functional Association Signals

Chang, S., Fang, K., Zhang, K., & Wang, J. (2015) · PLoS ONE · doi:10.1371/journal.pone.0133404 · Cited by 41

Pathway Analysis Based on a Genome-Wide Association Study of Polycystic Ovary Syndrome

Shim, U., Kim, H.-N., Lee, H., Oh, J.-Y., 성연아, & Kim, H.-L. (2015) · PLoS ONE · doi:10.1371/journal.pone.0136609 · Cited by 42

Anti-interleukin-12 and anti-interleukin-23 agents in Crohn’s disease

Macaluso, F. S., Orlando, A., & Cottone, M. (2018) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2019.1561850 · Cited by 39

DistiLD Database: diseases and traits in linkage disequilibrium blocks

Pallejá, A., Horn, H., Eliasson, S., & Jensen, L. J. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkr899 · Cited by 35

Network-based Analysis of Genome Wide Association Data Provides Novel Candidate Genes for Lipid and Lipoprotein Traits

Sharma, A., Gulbahce, N., Pevzner, S. J., Menche, J., Ladenvall, C., Folkersen, L., Eriksson, P. O., Orho‐Melander, M., & Barabási, A.-Ĺ. (2013) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m112.024851 · Cited by 36

Pathways-Driven Sparse Regression Identifies Pathways and Genes Associated with High-Density Lipoprotein Cholesterol in Two Asian Cohorts

Silver, M. J., Chen, P., Li, R., Cheng, C., Wong, T. Y., Tai, E. S., Teo, Y., & Montana, G. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003939 · Cited by 38

Optimizing the Use of Current Treatments and Emerging Therapeutic Approaches to Achieve Therapeutic Success in Patients with Inflammatory Bowel Disease

Nakase, H. (2019) · Gut and Liver · doi:10.5009/gnl18203 · Cited by 36

A role for vimentin in Crohn disease

Henderson, P., Wilson, D. C., Satsangi, J. J., & Stevens, C. (2012) · Autophagy · doi:10.4161/auto.21690 · Cited by 38

Haplotypes of IL-12Rβ1 impact on the clinical phenotype of hidradenitis suppurativa

Giatrakos, S., Huse, K., Kanni, T., Tzanetakou, V., Kramer, M., Grech, I., Papadavid, E., Katoulis, A., Stavrianeas, N. G., Nothnagel, M., et al. (2013) · Cytokine · doi:10.1016/j.cyto.2013.03.008 · Cited by 36

Genetics of the human metabolome, what is next?

Dharuri, H. K., Demirkan, A., van Klinken, J. B., Mook-Kanamori, D. O., van Duijn, C. M., Hoen, P. A. C. ’., & van Dijk, K. W. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2014.05.030 · Cited by 37

Analyzing the genes related to nicotine addiction or schizophrenia via a pathway and network based approach

Hu, Y. C., Fang, Z., Yang, Y., Rohlsen-Neal, D., Cheng, F., & Wang, J. (2018) · Scientific Reports · doi:10.1038/s41598-018-21297-x · Cited by 34

Measles Contributes to Rheumatoid Arthritis: Evidence from Pathway and Network Analyses of Genome-Wide Association Studies

Liu, G., Jiang, Y., Chen, X., Zhang, R., Ma, G., Feng, R., Zhang, L., Liao, M., Miao, Y., Chen, Z., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0075951 · Cited by 31

Exome localization of complex disease association signals

Lehne, B. C., Lewis, C. M., & Schlitt, T. (2011) · BMC Genomics · doi:10.1186/1471-2164-12-92 · Cited by 32

Pathway analysis comparison using Crohn's disease genome wide association studies

Ballard, D., Abraham, C., Cho, J. H., & Zhao, H. (2010) · BMC Medical Genomics · doi:10.1186/1755-8794-3-25 · Cited by 31

Integrating pathway analysis and genetics of gene expression for genome-wide association study of basal cell carcinoma

Zhang, M., Liang, L., Morar, N., Dixon, A. L., Lathrop, M. G., Ding, J., Moffatt, M. F., Cookson, W., Kraft, P. L., Qureshi, A. A., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-1107-5 · Cited by 33

Regulatory T Cells in Ovarian Carcinogenesis and Future Therapeutic Opportunities

Cassar, E., Kartikasari, A. E. R., & Plebanski, M. (2022) · Cancers · doi:10.3390/cancers14225488 · Cited by 31

The synaptoneurosome transcriptome: a model for profiling the emolecular effects of alcohol

Most, D., Ferguson, L. B., Blednov, Y. A., Mayfield, R. D., & Harris, R. A. (2014) · The Pharmacogenomics Journal · doi:10.1038/tpj.2014.43 · Cited by 31

Molecular Reclassification of Crohn's Disease by Cluster Analysis of Genetic Variants

Cleynen, I., John, J. M., Henckaerts, L., Moerkercke, W. V., Rutgeerts, P. J., Steen, K. V., & Vermeire, S. (2010) · PLoS ONE · doi:10.1371/journal.pone.0012952 · Cited by 31

Association of CD247 with systemic lupus erythematosus in Asian populations

Li, R., Yang, W., Zhang, J., Hirankarn, N., Pan, H., Mok, C., Chan, T. M., Wong, R., Mok, M. Y., Lee, K. W., et al. (2011) · Lupus · doi:10.1177/0961203311422724 · Cited by 31

Integrated pathway and epistasis analysis reveals interactive effect of genetic variants at TERF1 and AFAP1L2 loci on melanoma risk

Brossard, M., Fang, S., Vaysse, A., Wei, Q., Chen, W. V., Mohamdi, H., Maubec, E., Lavielle, N., Galan, P., Lathrop, M. G., et al. (2015) · International Journal of Cancer · doi:10.1002/ijc.29570 · Cited by 31

Identifying disease associated genes by network propagation

Qian, Y., Besenbacher, S., Mailund, T., & Schierup, M. H. (2014) · BMC Systems Biology · doi:10.1186/1752-0509-8-s1-s6 · Cited by 29

Pathway analysis of genome-wide association study and transcriptome data highlights new biological pathways in colorectal cancer

Quan, B., Qi, X., Yü, Z., Jiang, Y., Liao, M., Wang, G., Feng, R., Zhang, L., Chen, Z., Jiang, Q., et al. (2014) · Molecular Genetics and Genomics · doi:10.1007/s00438-014-0945-y · Cited by 29

Replication of association between interleukin-23 receptor (IL-23R) and its ligand (IL-12B) polymorphisms and psoriasis in the Chinese Han population

Wu, Y., Lu, Z., Chen, Y., Xue, F., Chen, X., & Zheng, J. (2010) · Human Immunology · doi:10.1016/j.humimm.2010.09.014 · Cited by 28

Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study

Martins, M., Williams, A. H., Comeau, M. E., Marion, M. C., Ziegler, J. T., Freedman, B. I., Merrill, J. T., Glenn, S. B., Kelly, J. A., Sivils, K. L. M., et al. (2015) · Genes and Immunity · doi:10.1038/gene.2014.73 · Cited by 28

Ustekinumab Use in Pediatric Inflammatory Bowel Disease

Koudsi, M., Martinez‐Vinson, C., Pigneur, B., Willot, S., Djeddi, D., Enaud, R., Rebeuh, J., Dupont, C., Dabadie, A., Bertrand, V., et al. (2023) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000003758 · Cited by 28

Pathways to smoking behaviours: biological insights from the Tobacco and Genetics Consortium meta-analysis

Minică, C. C., Mbarek, H., Pool, R., Dolan, C. V., Boomsma, D. I., & Vink, J. M. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.20 · Cited by 29

STAT4 gene influences genetic predisposition to ulcerative colitis but not Crohn's disease in the Spanish population: A replication study

Díaz-Gallo, L.-M., Palomino‐Morales, R., Gómez–García, M., Cardeña, C., Rodrigo, L., Nieto, A., Alcaín, G., Cueto, I., López‐Nevot, M. Á., & Martin, J. J. (2010) · Human Immunology · doi:10.1016/j.humimm.2010.02.005 · Cited by 28

3D genome organization links non-coding disease-associated variants to genes

Orozco, G., Schoenfelder, S., Walker, N. J., Eyre, S., & Fraser, P. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.995388 · Cited by 30

Integrative pathway genomics of lung function and airflow obstruction

Gharib, S. A., Loth, D. W., Artigas, M. S., Birkland, T. P., Wilk, J. B., Wain, L. V., Brody, J. A., Obeidat, M., Hancock, D. B., Tang, W., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv378 · Cited by 26

What have we learned from genome-wide association studies (GWAS) in Parkinson's disease?

Fernández‐Santiago, R., & Sharma, M. (2022) · Ageing Research Reviews · doi:10.1016/j.arr.2022.101648 · Cited by 26

Biological therapy in pediatric age

Penagini, F., Cococcioni, L., Pozzi, E., Dilillo, D., Rendo, G., Mantegazza, C., & Zuccotti, G. (2020) · Pharmacological Research · doi:10.1016/j.phrs.2020.105120 · Cited by 25

Is there evidence to claim or deny association between variants of the multidrug resistance gene (MDR1 or ABCB1) and inflammatory bowel disease?

Zintzaras, E. (2011) · Inflammatory Bowel Diseases · doi:10.1002/ibd.21728 · Cited by 28

TYK2 rs34536443 polymorphism is associated with a decreased susceptibility to endometriosis-related infertility

Peluso, C., Christofolini, D. M., Goldman, C., Mafra, F., Cavalcanti, V., Barbosa, C. P., & Bianco, B. A. V. (2012) · Human Immunology · doi:10.1016/j.humimm.2012.09.007 · Cited by 25

Integrated Genomics Identifies Convergence of Ankylosing Spondylitis with Global Immune Mediated Disease Pathways

Uddin, M. J., Codner, D., Hasan, S. M. M., Scherer, S. W., O’Rielly, D. D., & Rahman, P. (2015) · Scientific Reports · doi:10.1038/srep10314 · Cited by 25

Gene Network Analysis in a Pediatric Cohort Identifies Novel Lung Function Genes

Ong, B. A., Li, J., McDonough, J. M., Wei, Z., Kim, C., Chiavacci, R. M., Mentch, F. D., Caboot, J. B., Spergel, J. M., Allen, J. L., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0072899 · Cited by 24

Ustekinumab in the management of Crohn’s disease: Expert opinion

Armuzzi, A., Ardizzone, S., Biancone, L., Castiglione, F., Danese, S., Gionchetti, P., Orlando, A., Rizzello, F., Scribano, M. L., Vecchi, M. L., et al. (2018) · Digestive and Liver Disease · doi:10.1016/j.dld.2018.02.017 · Cited by 24

Modern drug discovery for inflammatory bowel disease: The role of computational methods

Johnson, T. O., Akinsanmi, A. O., Ejembi, S. A., Adeyemi, O., Oche, J.-R. I., Johnson, G. I., & Adegboyega, A. E. (2023) · World Journal of Gastroenterology · doi:10.3748/wjg.v29.i2.310 · Cited by 23

A Two-Stage Random Forest-Based Pathway Analysis Method

Chung, R., & Chen, Y. (2012) · PLoS ONE · doi:10.1371/journal.pone.0036662 · Cited by 23

New and Evolving Immunotherapy in Inflammatory Bowel Disease

Raad, M. A., Chams, N., & Sharara, A. I. (2016) · Inflammatory Intestinal Diseases · doi:10.1159/000445986 · Cited by 22

Endoscopic features and genetic background of inflammatory bowel disease complicated with Takayasu arteritis

Akiyama, S., Fujii, T., Matsuoka, K., Ebana, Y., Negi, M., Takenaka, K., Nagahori, M., Ohtsuka, K., Isobe, M., & Watanabe, M. (2016) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.13640 · Cited by 23

Role of genetics in the diagnosis and prognosis of Crohn's disease

Tsianos, E. V. (2011) · World Journal of Gastroenterology · doi:10.3748/wjg.v17.i48.5246 · Cited by 22

Positioning Ustekinumab in Crohn’s Disease: From Clinical Evidence to Clinical Practice

Danese, S., Bonovas, S., & Peyrin‐Biroulet, L. (2017) · Journal of Crohn s and Colitis · doi:10.1093/ecco-jcc/jjx079 · Cited by 22

Pathway-based identification of SNPs predictive of survival

Pang, H., Hauser, M. A., & Minvielle, S. (2011) · European Journal of Human Genetics · doi:10.1038/ejhg.2011.3 · Cited by 22

Gene Set Analysis and Network Analysis for Genome-Wide Association StudiesPreprint

Pedroso, I., & Breen, G. D. (2011) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top065581 · Cited by 22

Causal modelling of gene effects from regulators to programs to traits

Ota, M., Spence, J. P., Zeng, T., Dann, E., Milind, N., Marson, A., & Pritchard, J. K. (2025) · Nature · doi:10.1038/s41586-025-09866-3 · Cited by 43

The regulation-of-autophagy pathway may influence Chinese stature variation: evidence from elder adults

Pan, F., Liu, X.-G., Guo, Y.-F., Chen, Y., Dong, S., Qiu, C., Zhang, Z., Zhou, Q., Yang, T., Guo, Y., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.44 · Cited by 21

Genetic Profiling in Inflammatory Bowel Disease: From Association to Bedside

Limbergen, J. V., Philpott, D. J., & Griffiths, A. M. (2011) · Gastroenterology · doi:10.1053/j.gastro.2011.09.018 · Cited by 20

Computational dissection of human episodic memory reveals mental process-specific genetic profiles

Lukšys, G., Fastenrath, M., Coynel, D., Freytag, V., Gschwind, L., Heck, A., Jessen, F., Maier, W., Milnik, A., Riedel-Heller, S. G., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1500860112 · Cited by 20

Pathway-Based Analysis of a Melanoma Genome-Wide Association Study: Analysis of Genes Related to Tumour-Immunosuppression

Schoof, N., Iles, M. M., Bishop, D. T., Newton‐Bishop, J., & Barrett, J. H. (2011) · PLoS ONE · doi:10.1371/journal.pone.0029451 · Cited by 20

Biological agents as attractive targets for inflammatory bowel disease therapeutics

Xue, J.-C., Hou, X.-T., Zhao, Y., & Yuan, S. (2024) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2024.167648 · Cited by 22

A Polymorphism in the Coding Region of Il12b Promotes IL-12p70 and IL-23 Heterodimer Formation

Zwiers, A., Fuss, I. J., Seegers, D., Konijn, T., García-Vallejo, J. J., Samsom, J. N., Strober, W., Kraal, G., & Bouma, G. (2011) · The Journal of Immunology · doi:10.4049/jimmunol.1001330 · Cited by 17

PET Imaging Radiotracers of Chemokine Receptors

Alluri, S. R., Higashi, Y., & Kil, K.-E. (2021) · Molecules · doi:10.3390/molecules26175174 · Cited by 17

Pathway-Based Genome-Wide Association Studies for Plasma Triglycerides in Obese Females and Normal-Weight Controls

Jiao, H., Wang, K., Yang, F., Grant, S. F. A., Hakonarson, H. H., Price, R. A., & Li, W. (2015) · PLoS ONE · doi:10.1371/journal.pone.0134923 · Cited by 18

Pathway Analysis for Genome-Wide Association Study of Basal Cell Carcinoma of the Skin

Zhang, M., Liang, L., Xu, M., Qureshi, A. A., & Han, J. (2011) · PLoS ONE · doi:10.1371/journal.pone.0022760 · Cited by 17

New targeted therapies such as anti-adhesion molecules, anti-IL-12/23 and anti-Janus kinases are looking toward a more effective treatment of inflammatory bowel disease

Bravatà, I., Fiorino, G., Allocca, M., Repici, A., & Danese, S. (2014) · Scandinavian Journal of Gastroenterology · doi:10.3109/00365521.2014.993700 · Cited by 16

Tyrosine kinase-2 gene polymorphisms are associated with ulcerative colitis and Crohn's disease in Turkish Population

Can, G., Tezel, A., Gürkan, H., Can, H., Yılmaz, B., Ünsal, G., Soylu, A. R., & Ümit, H. C. (2015) · Clinics and Research in Hepatology and Gastroenterology · doi:10.1016/j.clinre.2015.01.005 · Cited by 16

Pathway analysis of bladder cancer genome-wide association study identifies novel pathways involved in bladder cancer development

Chen, M., Rothman, N., Ye, Y., Gu, J. H., Scheet, P. A., Huang, M., Chang, D. W., Dinney, C. P., Silverman, D. T., Figueroa, J. D., et al. (2016) · Genes & Cancer · doi:10.18632/genesandcancer.113 · Cited by 16

Drug Gene-Set Analysis Identifies Established and Emerging Therapeutic MechanismsPreprint

Bell, N. Y., Uffelmann, E., van Walree, E. S., Schipper, M., Heilbron, K., de Leeuw, C., & Posthuma, D. (2022) · medRxiv · doi:10.1101/2022.09.06.22279660 · Cited by 16

Causal modeling of gene effects from regulators to programs to traits: integration of genetic associations and Perturb-seqPreprint

Ota, M., Spence, J. P., Zeng, T., Dann, E., Marson, A., & Pritchard, J. K. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.01.22.634424 · Cited by 16

Genetic variants in the IL12B gene are associated with inflammatory bowel diseases in the K orean population

Moon, C. M., Shin, D., Son, N., Shin, E., Hong, S. P., Kim, T. I., Kim, W. H., & Cheon, J. H. (2013) · Journal of Gastroenterology and Hepatology · doi:10.1111/jgh.12214 · Cited by 15

SNPs in the interleukin-12 signaling pathway are associated with breast cancer risk in Puerto Rican women

Núñez-Marrero, Á. R., Arroyo, N., Godoy, L. J., Rahman, M. Z., Matta, J. L., & Dutil, J. (2020) · Oncotarget · doi:10.18632/oncotarget.27707 · Cited by 15

Large Scale Analysis of Phenotype-Pathway Relationships Based on GWAS Results

Brodie, A., Tovia‐Brodie, O., & Ofran, Y. (2014) · PLoS ONE · doi:10.1371/journal.pone.0100887 · Cited by 15

Pathway-Wide Association Study Implicates Multiple Sterol Transport and Metabolism Genes in HDL Cholesterol Regulation

Wang, K., Edmondson, A. C., Li, M., Gao, F., Qasim, A., Devaney, J. M., Burnett, M. S., Waterworth, D. M., Mooser, V., Grant, S. F. A., et al. (2011) · Frontiers in Genetics · doi:10.3389/fgene.2011.00041 · Cited by 15

The quest for genetic risk factors for Crohn's disease in the post-GWAS era

Fransén, K., Mitrovič, M., van Diemen, C. C., & Weersma, R. K. (2011) · Genome Medicine · doi:10.1186/gm227 · Cited by 15

eQTL analysis links inflammatory bowel disease associated 1q21 locus to ECM1 gene

Repnik, K., & Potočnik, U. (2016) · Journal of Applied Genetics · doi:10.1007/s13353-015-0334-1 · Cited by 14

Planning a genome-wide association study: Points to consider

Hakonarson, H. H., & Grant, S. F. A. (2011) · Annals of Medicine · doi:10.3109/07853890.2011.573803 · Cited by 14

Gaining a Pathway Insight into Genetic Association Data

Pedroso, I. (2010) · Methods in molecular biology · doi:10.1007/978-1-60327-367-1_20 · Cited by 14

Boosting Gene Mapping Power and Efficiency with Efficient Exact Variance Component Tests of Single Nucleotide Polymorphism Sets

Zhou, J. J., Hu, T., Qiao, D., Cho, M. H., & Zhou, H. (2016) · Genetics · doi:10.1534/genetics.116.190454 · Cited by 13

Genome-wide pathway-based association study implicates complement system in the development of Kashin-Beck disease in Han Chinese

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ORIGINAL ARTICLE Genetic Epistasis of IL23/IL17 Pathway Genes in Crohn’s Disease

Taylor, K. D. (2015)