Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases

An Introduction to the Bootstrap

Efron, B., & Tibshirani, R. J. (1994) · doi:10.1201/9780429246593 · Cited by 40,500

An Introduction to the Bootstrap

Efron, B., & Tibshirani, R. J. (1993) · doi:10.1007/978-1-4899-4541-9 · Cited by 21,230

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

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder

The International Schizophrenia Consortium (2009) · Nature · doi:10.1038/nature08185 · Cited by 4,821

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013

Better Bootstrap Confidence Intervals

Efron, B. (1987) · Journal of the American Statistical Association · doi:10.1080/01621459.1987.10478410 · Cited by 3,462

The Wellcome Trust Case Control Consortium, U.K.

Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease

the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.175 · Cited by 2,593

Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database

Bertram, L., McQueen, M. B., Mullin, K., Blacker, D., & Tanzi, R. E. (2007) · Nature Genetics · doi:10.1038/ng1934 · Cited by 1,857

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

Liu, J. Z., van Sommeren, S., Huang, H., Ng, S. C., Alberts, R., Takahashi, A., Ripke, S., Lee, J. C., Jostins, L., Shah, T., et al. (2015) · Nature Genetics · doi:10.1038/ng.3359 · Cited by 2,603

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

the CARDIoGRAMplusC4D Consortium (2015) · Nature Genetics · doi:10.1038/ng.3396 · Cited by 2,447

Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Malik, R., Chauhan, G., Traylor, M., Sargurupremraj, M., Okada, Y., Mishra, A., Rutten‐Jacobs, L. C. A., Giese, A., van der Laan, S. W., Grétarsdóttir, S., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0058-3 · Cited by 1,583

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche, L. G., Igl, W., Bailey, J. N. C., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., et al. (2016) · Nature Genetics · doi:10.1038/ng.3448 · Cited by 1,544

Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus

Bentham, J., Morris, D. L., Graham, D. S. C., Pinder, C. L., Tombleson, P., Behrens, T. W., Martin, J. J., Fairfax, B. P., Knight, J. C., Chen, L., et al. (2015) · Nature Genetics · doi:10.1038/ng.3434 · Cited by 1,004

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

Nielsen, J. B., Thorolfsdottir, R. B., Fritsche, L. G., Zhou, W., Skov, M. W., Graham, S. E., Herron, T. J., McCarthy, S., Schmidt, E. M., Sveinbjornsson, G., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0171-3 · Cited by 876

Common genetic variants influence human subcortical brain structures

Initiative, T. A. D. N., Hibar, D. P., The CHARGE Consortium, EPIGEN, IMAGEN, SYS, Stein, J. L., Renteria, M. E., Arias-Vasquez, A., Desrivières, S., et al. (2015) · Nature · doi:10.1038/nature14101 · Cited by 858

Seven new loci associated with age-related macular degeneration

The AMD Gene Consortium (2013) · Nature Genetics · doi:10.1038/ng.2578 · Cited by 788

The genetics of asthma and allergic disease: a 21st century perspective

Ober, C., & Yao, T. (2011) · Immunological Reviews · doi:10.1111/j.1600-065x.2011.01029.x · Cited by 698

Research Review: Polygenic methods and their application to psychiatric traits

Wray, N. R., Lee, S., Mehta, D., Vinkhuyzen, A. A. E., Dudbridge, F., & Middeldorp, C. M. (2014) · Journal of Child Psychology and Psychiatry · doi:10.1111/jcpp.12295 · Cited by 683

Genetics of coronary artery disease: discovery, biology and clinical translation

Khera, A. V., & Kathiresan, S. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2016.160 · Cited by 659

Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis

Paternoster, L., Kemp, J. P., Zheng, J., Smith, G. D., Relton, C. L., Evans, D. M., McArdle, W. L., Henderson, A. J., Standl, M., Tiesler, C. M. T., et al. (2015) · Nature Genetics · doi:10.1038/ng.3424 · Cited by 620

Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

Démenais, F., Margaritte‐Jeannin, P., Barnes, K. C., Cookson, W., Altmüller, J., Ang, W., Barr, R. G., Beaty, T. H., Becker, A. B., Beilby, J. P., et al. (2017) · Nature Genetics · doi:10.1038/s41588-017-0014-7 · Cited by 547

Age-Related Macular Degeneration: Genetics and Biology Coming Together

Fritsche, L. G., Fariss, R. N., Stambolian, D. E., Abecasis, G. R., Curcio, C. A., & Swaroop, A. (2014) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-090413-025610 · Cited by 546

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

Al-Mayouf, S. M., Sunker, A., Abdwani, R., Abrawi, S. A., Al-Murshedi, F. M., Alhashmi, N., Alsonbul, A., Sewairi, W., Qari, A., Abdallah, E., et al. (2011) · Nature Genetics · doi:10.1038/ng.975 · Cited by 492

The multiplex model of the genetics of Alzheimer's disease

Sims, R., Hill, M., & Williams, J. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0599-5 · Cited by 466

Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders

Lo, M., Hinds, D. A., Tung, J. Y., Franz, C. E., Fan, C.-C., Wang, Y., Smeland, O. B., Schork, A. J., Holland, D., Kauppi, K., et al. (2016) · Nature Genetics · doi:10.1038/ng.3736 · Cited by 462

Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis

The UK-PSCSC Consortium, Liu, J. Z., The International IBD Genetics Consortium, The International PSC Study Group, Hov, J. R., Folseraas, T., Ellinghaus, E., Rushbrook, S. M., Doncheva, N. T., Andreassen, O. A., et al. (2013) · Nature Genetics · doi:10.1038/ng.2616 · Cited by 391

Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants

Tsoi, L. C., Stuart, P. E., Tian, C., Gudjonsson, J. E., Das, S., Zawistowski, M., Ellinghaus, E., Barker, J. N., Chandran, V., Dand, N., et al. (2017) · Nature Communications · doi:10.1038/ncomms15382 · Cited by 404

Population-specific and trans-ancestry genome-wide analyses identify distinct and shared genetic risk loci for coronary artery disease

Koyama, S., Ito, K., Terao, C., Akiyama, M., Horikoshi, M., Momozawa, Y., Matsunaga, H., Ieki, H., Ozaki, K., Onouchi, Y., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0705-3 · Cited by 353

Evaluation and management of youth-onset type 2 diabetes: a position statement by the American Diabetes Association

Arslanian, S., Bacha, F., Grey, M., Marcus, M. D., White, N. H., & Zeitler, P. (2018) · Diabetes Care · doi:10.2337/dci18-0052 · Cited by 349

Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis

Peters, U., Jiao, S., Schumacher, F. R., Hutter, C. M., Aragaki, A. K., Baron, J. A., Berndt, S. I., Bezieau, S., Brenner, H., Butterbach, K., et al. (2012) · Gastroenterology · doi:10.1053/j.gastro.2012.12.020 · Cited by 324

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer’s disease families

Cruchaga, C., Chakraverty, S., Mayo, K., Vallania, F. L. M., Mitra, R. D., Faber, K., Williamson, J., Bird, T., Diaz-Arrastia, R., Foroud, T. M., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0031039 · Cited by 320

Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

Stuart, P. E., Nair, R. P., Tsoi, L. C., Tejasvi, T., Das, S., Kang, H. M., Ellinghaus, E., Chandran, V., Callis-Duffin, K. P., Ike, R. W., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.10.019 · Cited by 321

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature · doi:10.1038/s41586-019-1231-2 · Cited by 304

All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs

Schork, A., Thompson, W., Pham, P. H., Torkamani, A., Roddey, J., Sullivan, P., Kelsoe, J., O'Donovan, M., Furberg, H., Schork, N., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003449 · Cited by 320

Estimation of complex effect-size distributions using summary-level statistics from genome-wide association studies across 32 complex traits

Zhang, Y., Qi, G., Park, J.-H., & Chatterjee, N. (2018) · Nature Genetics · doi:10.1038/s41588-018-0193-x · Cited by 288

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis

The UK Primary Biliary Cirrhosis (PBC) Consortium, Liu, J. Z., The Wellcome Trust Case Control Consortium 3, Almarri, M. A., Gaffney, D. J., Mells, G. F., Jostins, L., Cordell, H. J., Ducker, S. J., Day, D. B., et al. (2012) · Nature Genetics · doi:10.1038/ng.2395 · Cited by 274

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

Saxena, R., Elbers, C. C., Guo, Y., Peter, I., Gaunt, T. R., Mega, J. L., Lanktree, M. B., Tare, A., Castillo, B. A., Li, Y. R., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.12.022 · Cited by 270

Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations

Dai, J., Lv, J., Zhu, M., Wang, Y., Qin, N., Ma, H., He, Y., Zhang, R., Tan, W., Fan, J., et al. (2019) · The Lancet Respiratory Medicine · doi:10.1016/s2213-2600(19)30144-4 · Cited by 267

Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel

Kunkle, B. W., Schmidt, M. A., Klein, H., Naj, A. C., Hamilton‐Nelson, K. L., Larson, E. B., Evans, D. A., Jager, P. L. D., Crane, P. K., Buxbaum, J. D., et al. (2020) · JAMA Neurology · doi:10.1001/jamaneurol.2020.3536 · Cited by 258

The Genome of the Netherlands: design, and project goals

Boomsma, D. I., Wijmenga, C., Slagboom, P. E., Swertz, M. A., Karssen, L. C., Abdellaoui, A., Ye, K., Guryev, V., Vermaat, M., van Dijk, F., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.118 · Cited by 249

Low copy number of the salivary amylase gene predisposes to obesity

Falchi, M., El-Sayed Moustafa, J. S., Takousis, P., Pesce, F., Bonnefond, A., Andersson-Assarsson, J. C., Sudmant, P. H., Dorajoo, R., Al-Shafai, M. N., Bottolo, L., et al. (2014) · Nature Genetics · doi:10.1038/ng.2939 · Cited by 254

High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry

Sun, C., Molineros, J. E., Looger, L. L., Zhou, S., Kim, K.-W., Okada, Y., Ma, J., Qi, Y., Kim-Howard, X., Motghare, P. N., et al. (2016) · Nature Genetics · doi:10.1038/ng.3496 · Cited by 256

A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13

Cho, M. H., Castaldi, P. J., Wan, E. S., Siedliński, M., Hersh, C. P., DeMeo, D. L., Himes, B. E., Sylvia, J. S., Klanderman, B. J., Ziniti, J. P., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr524 · Cited by 253

Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups

Wang, Y., Zhang, Y., Lin, Z., Zhang, H., Wang, T.-Y., Cao, Y., Morris, D. L., Sheng, Y., Yin, X., Zhong, S.-L., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-21049-y · Cited by 242

Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

Ramasamy, A., Kuokkanen, M., Vedantam, S., Gajdos, Z. K. Z., Alves, A. C., Lyon, H. N., Ferreira, M. A. R., Strachan, D. P., Zhao, J. H., Abramson, M. J., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0044008 · Cited by 225

Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis

Lee, S. H., Harold, D., Nyholt, D. R., ANZGene Consortium, International Endogene Consortium, the Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium, Goddard, M. E., Zondervan, K. T., Williams, J., Montgomery, G. W., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/dds491 · Cited by 217

Convergent genetic and expression data implicate immunity in Alzheimer's disease

International Genomics of Alzheimer's Disease Consortium (IGAP), Jones, L., Lambert, J., Wang, L., Choi, S., Harold, D., Vedernikov, A., Escott‐Price, V., Stone, T., Richards, A., et al. (2015) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2014.05.1757 · Cited by 199

Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases

Lenz, T. L., Deutsch, A. J., Han, B., Hu, X., Okada, Y., Eyre, S., Knapp, M., Zhernakova, A., Huizinga, T. W. J., Abecasis, G. R., et al. (2015) · Nature Genetics · doi:10.1038/ng.3379 · Cited by 195

Genome-wide study of association and interaction with maternal cytomegalovirus infection suggests new schizophrenia loci

GROUP investigators, Børglum, A. D., Demontis, D., Grove, J., Pallesen, J., Hollegaard, M. V., Pedersen, C. B., Hedemand, A., Mattheisen, M., Uitterlinden, A., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.2 · Cited by 186

Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations

Yang, S., Hong, M., Zhao, W., Jung, Y., Baek, J., Tayebi, N., Kim, K. M., Ye, B. D., Kim, K., Park, S. H., et al. (2013) · Gut · doi:10.1136/gutjnl-2013-305193 · Cited by 182

Psychiatric Symptoms in Systemic Lupus Erythematosus

Meszaros, Z. S., Perl, A., & Faraone, S. V. (2012) · The Journal of Clinical Psychiatry · doi:10.4088/jcp.11r07425 · Cited by 179

Identification of six new genetic loci associated with atrial fibrillation in the Japanese population

Low, S., Takahashi, A., Ebana, Y., Ozaki, K., Christophersen, I. E., Ellinor, P. T., Ogishima, S., Yamamoto, M. P., Satoh, M., Sasaki, M., et al. (2017) · Nature Genetics · doi:10.1038/ng.3842 · Cited by 169

Heritability versus the role of the environment in autoimmunity

Selmi, C. F., Lu, Q., & Humble, M. C. (2012) · Journal of Autoimmunity · doi:10.1016/j.jaut.2012.07.011 · Cited by 167

Epigenome-wide association study of fasting measures of glucose, insulin, and HOMA-IR in the Genetics of Lipid Lowering Drugs and Diet Network study

Hidalgo, B., Irvin, M. R., Sha, J., Zhi, D., Aslibekyan, S., Absher, D., Tiwari, H. K., Kabagambe, E. K., Ordovas, J. M., & Arnett, D. K. (2014) · Diabetes · doi:10.2337/db13-1100 · Cited by 160

The contribution of genetic variants to disease depends on the ruler

Witte, J. S., Visscher, P. M., & Wray, N. R. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3786 · Cited by 163

Genome-wide association study of lifetime cannabis use based on a large meta-analytic sample of 32 330 subjects from the International Cannabis Consortium

Stringer, S., Minică, C. C., Verweij, K. J. H., Mbarek, H., Bernard, M., Derringer, J. L., van Eijk, K. R., Isen, J. D., Loukola, A., Maciejewski, D. F., et al. (2016) · Translational Psychiatry · doi:10.1038/tp.2016.36 · Cited by 160

Arguments for the sake of endophenotypes: Examining common misconceptions about the use of endophenotypes in psychiatric genetics

Glahn, D. C., Knowles, E. E. M., McKay, D., Sprooten, E., Raventós, H., Blangero, J., Gottesman, I. I., & Almasy, L. A. (2014) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32221 · Cited by 167

Heritability in the genome-wide association era

Zaitlen, N., & Kraft, P. L. (2012) · Human Genetics · doi:10.1007/s00439-012-1199-6 · Cited by 163

Diabetes Mellitus, Glycemic Traits, and Cerebrovascular Disease

Georgakis, M. K., Harshfield, E. L., Malik, R., Franceschini, N., Langenberg, C., Wareham, N. J., Markus, H. S., & Dichgans, M. (2021) · Neurology · doi:10.1212/wnl.0000000000011555 · Cited by 145

The changing face of diabetes in youth: lessons learned from studies of type 2 diabetes

Hannon, T. S., & Arslanian, S. A. (2015) · Annals of the New York Academy of Sciences · doi:10.1111/nyas.12939 · Cited by 137

Transgenerational Epigenetic Effects on Brain Functions

Bohacek, J., Gapp, K., Saab, B. J., & Mansuy, I. M. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2012.08.019 · Cited by 142

Evidence of CNIH3 involvement in opioid dependence

Nelson, E. C., Agrawal, A., Heath, A. C., Bogdan, R., Sherva, R., Zhang, B., Al-Hasani, R., Bruchas, M. R., Chou, Y.-L., Demers, C. H., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2015.102 · Cited by 131

Genetic advances in systemic lupus erythematosus: an update

Chen, L., Morris, D. L., & Vyse, T. J. (2017) · Current Opinion in Rheumatology · doi:10.1097/bor.0000000000000411 · Cited by 132

Estimating the genetic variance of Major Depressive Disorder (MDD) due to all SNPs

Lubke, G., Hottenga, J., Walters, R., Laurin, C., de Geus, E. D., Willemsen, G., Smit, J., Middeldorp, C., Penninx, B., Vink, J., et al. (2012) · Biological Psychiatry · doi:10.1016/j.biopsych.2012.03.011 · Cited by 145

The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease

Moutsianas, L., Agarwala, V., Fuchsberger, C., Flannick, J. A., Rivas, M. A., Gaulton, K. J., Albers, P. K., McVean, G., Boehnke, M., Altshuler, D., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005165 · Cited by 135

Quantifying Missing Heritability at Known GWAS Loci

Gusev, A., Bhatia, G., Zaitlen, N., Vilhjálmsson, B. J., Diogo, D., Stahl, E. A., Gregersen, P. K., Worthington, J., Klareskog, L., Raychaudhuri, S., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003993 · Cited by 125

Genome-Wide Linkage Analyses of 12 Endophenotypes for Schizophrenia From the Consortium on the Genetics of Schizophrenia

Greenwood, T. A., Swerdlow, N. R., Gur, R. E., Cadenhead, K. S., Calkins, M. E., Dobie, D. J., Freedman, R., Green, M. F., Gur, R. C., Lazzeroni, L. C., et al. (2013) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2012.12020186 · Cited by 124

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases

Chen, J., Chen, Z., Won, H., Huang, A., Lowe, J. K., Wojta, K. J., Yokoyama, J. S., Bensimon, G., Leigh, P. N., Payan, C., et al. (2018) · Molecular Neurodegeneration · doi:10.1186/s13024-018-0270-8 · Cited by 117

Genetic Analysis of Venous Thromboembolism in UK Biobank Identifies the ZFPM2 Locus and Implicates Obesity as a Causal Risk Factor

Klarin, D. M., Emdin, C. A., Natarajan, P., Conrad, M. F., & Kathiresan, S. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001643 · Cited by 118

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

Nielsen, J. B., Fritsche, L. G., Zhou, W., Teslovich, T. M., Holmen, O. L., Gustafsson, S., Gabrielsen, M. E., Schmidt, E. M., Beaumont, R. N., Wolford, B. N., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.12.003 · Cited by 115

Statistical methods for genome-wide association studies

Wang, M. H., Cordell, H. J., & Steen, K. V. (2018) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2018.04.008 · Cited by 126

Modelling the Effects of Penetrance and Family Size on Rates of Sporadic and Familial Disease

Al‐Chalabi, A., & Lewis, C. M. (2011) · Human Heredity · doi:10.1159/000330167 · Cited by 118

Comparison of Family History and SNPs for Predicting Risk of Complex Disease

Do, C. B., Hinds, D. A., Francke, U., & Eriksson, N. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002973 · Cited by 118

The p.Ser267Phe variant in SLC10A1 is associated with resistance to chronic hepatitis B

Peng, L., Zhao, Q., Li, Q., Li, M., Li, C., Xu, T., Jing, X., Zhu, X., Wang, Y., Li, F., et al. (2014) · Hepatology · doi:10.1002/hep.27608 · Cited by 103

Most common ‘sporadic’ cancers have a significant germline genetic component

Lu, Y., Ek, W. E., Whiteman, D. C., Vaughan, T. L., Spurdle, A. B., Easton, D. F., Pharoah, P. D. P., Thompson, D. J., Dunning, A. M., Hayward, N. K., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu312 · Cited by 98

Mechanisms of transgenerational inheritance of addictive-like behaviors

Vassoler, F. M., & Sadri-Vakili, G. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2013.07.064 · Cited by 96

Germline Genetic Contributions to Risk for Esophageal Adenocarcinoma, Barrett's Esophagus, and Gastroesophageal Reflux

Ek, W. E., Levine, D. M., D’Amato, M., Pedersen, N. L., Magnusson, P. K. E., Bresso, F., Onstad, L. E., Schmidt, P. T., Törnblom, H., Nordenstedt, H., et al. (2013) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djt303 · Cited by 95

Biological hypotheses, risk factors, and biomarkers of schizophrenia

Fišar, Z. (2022) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2022.110626 · Cited by 103

The genetics of breast cancer risk in the post-genome era: thoughts on study design to move past BRCA and towards clinical relevance

Skol, A. D., Sasaki, M. M., & Onel, K. (2016) · Breast Cancer Research · doi:10.1186/s13058-016-0759-4 · Cited by 97

Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis

Terao, C. C., Yoshifuji, H., Matsumura, T., Naruse, T. K., Ishii, T., Nakaoka, Y., Kirino, Y., Matsuo, K., Origuchi, T., Shimizu, M., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1808850115 · Cited by 89

IgG4-related disease in the Japanese population: a genome-wide association study

Terao, C. C., Ôta, M., Iwasaki, T., Shiokawa, M., Kawaguchi, S., Kuriyama, K., Kawaguchi, T., Kodama, Y., Yamaguchi, I., Uchida, K., et al. (2019) · The Lancet Rheumatology · doi:10.1016/s2665-9913(19)30006-2 · Cited by 86

Whole-exome sequencing and imaging genetics identify functional variants for rate of change in hippocampal volume in mild cognitive impairment

Nho, K. T., Corneveaux, J. J., Kim, S., Lin, H., Risacher, S. L., Shen, L., Swaminathan, S., Ramanan, V. K., Liu, Y., Foroud, T., et al. (2013) · Molecular Psychiatry · doi:10.1038/mp.2013.24 · Cited by 81

Risk Prediction of Complex Diseases from Family History and Known Susceptibility Loci, with Applications for Cancer Screening

So, H., Kwan, J. S. H., Cherny, S. S., & Sham, P. C. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.001 · Cited by 81

Genetic sharing and heritability of paediatric age of onset autoimmune diseases

Li, Y. R., Zhao, S. D., Li, J., Bradfield, J. P., Mohebnasab, M., Steel, L., Kobie, J., Abrams, D. J., Mentch, F. D., Glessner, J., et al. (2015) · Nature Communications · doi:10.1038/ncomms9442 · Cited by 74

Evidence of Gene-Gene Interaction and Age-at-Diagnosis Effects in Type 1 Diabetes

Howson, J. M. M., Cooper, J. D., Smyth, D. J., Walker, N. M., Stevens, H. E., She, J., Eisenbarth, G. S., Rewers, M., Todd, J. A., Akolkar, B., et al. (2012) · Diabetes · doi:10.2337/db11-1694 · Cited by 76

GWAS Replication Study Confirms the Association of PDE3A–SLCO1C1 with anti-TNF Therapy Response in Rheumatoid Arthritis

Acosta-Colman, I., Palau, N., Tornero, J., Fernández‐Nebro, A., Blanco, F. J., González‐Álvaro, I., Cañete, J. D. D., Maymó, J., Ballina, J., Fernández‐Gutiérrez, B., et al. (2013) · Pharmacogenomics · doi:10.2217/pgs.13.60 · Cited by 70

Uncovering the total heritability explained by all true susceptibility variants in a genome-wide association study

So, H., Li, M., & Sham, P. C. (2011) · Genetic Epidemiology · doi:10.1002/gepi.20593 · Cited by 70

Immunochip Analysis Identification of 6 Additional Susceptibility Loci for Crohnʼs Disease in Koreans

Yang, S., Hong, M., Choi, H., Zhao, W., Jung, Y., Haritunians, T., Ye, B. D., Kim, K. J., Park, S. H., Lee, I., et al. (2014) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000268 · Cited by 71

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

Jun, G., Asai, H., Zeldich, E., Drapeau, E., Chen, C., Chung, J., Park, J., Kim, S., Haroutunian, V., Foroud, T., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24219 · Cited by 67

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes

Skotte, L., Fadista, J., Bybjerg‐Grauholm, J., Appadurai, V., Hildebrand, M. S., Hansen, T. F., Banasik, K., Grove, J., Albiñana, C., Geller, F., et al. (2021) · Brain · doi:10.1093/brain/awab260 · Cited by 67

δ-Catenin Is Genetically and Biologically Associated with Cortical Cataract and Future Alzheimer-Related Structural and Functional Brain Changes

Jun, G., Moncaster, J. A., Koutras, C., Seshadri, S. S., Buros, J. L., McKee, A. C., Lévesque, G., Wolf, P. A., George‐Hyslop, P. S., Goldstein, L. E., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0043728 · Cited by 66

Chance, genetics, and the heterogeneity of disease and pathogenesis in systemic lupus erythematosus

Marion, T. N., & Postlethwaite, A. E. (2014) · Seminars in Immunopathology · doi:10.1007/s00281-014-0440-x · Cited by 64

Additive Effects of the Risk Alleles of PNPLA3 and TM6SF2 on Non-alcoholic Fatty Liver Disease (NAFLD) in a Chinese Population

Wang, X., Liu, Z., Wang, K., Wang, Z., Sun, X., Zhong, L., Deng, G., Song, G., Sun, B., Peng, Z., et al. (2016) · Frontiers in Genetics · doi:10.3389/fgene.2016.00140 · Cited by 66

Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci

Ellinghaus, E., Ellinghaus, D., Krusche, P., Greiner, A., Schreiber, C., Nikolaus, S., Gieger, C., Strauch, K., Lieb, W., Rosenstiel, P. C., et al. (2017) · Scientific Reports · doi:10.1038/srep45652 · Cited by 64

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

Batu, E. D., Koşukçu, C., Taşkıran, E. Z., Şahin, S., Akman, S., Sözeri, B., Ünsal, E., Bilginer, Y., Kasapçopur, Ö., Alikaşifoğlu, M., et al. (2018) · The Journal of Rheumatology · doi:10.3899/jrheum.171358 · Cited by 64

Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide

Stuart, P. E., Tsoi, L. C., Nair, R. P., Ghosh, M., Kabra, M., Shaiq, P. A., Raja, G. K., Qamar, R., Thelma, B. K., Patrick, M. T., et al. (2021) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2021.100069 · Cited by 66

Confirmation of five novel susceptibility loci for Systemic Lupus Erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci

Molineros, J. E., Yang, W., Zhou, S., Sun, C., Okada, Y., Zhang, H., Chua, K. H., Lau, Y., Kochi, Y., Suzuki, A., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx026 · Cited by 65

Amino acid signatures of HLA Class-I and II molecules are strongly associated with SLE susceptibility and autoantibody production in Eastern Asians

Molineros, J. E., Looger, L. L., Kim, K.-W., Okada, Y., Terao, C., Sun, C., Zhou, S., Raj, P., Kochi, Y., Suzuki, A., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008092 · Cited by 65

Current understanding of human genetics and genetic analysis of psoriasis

Oka, A., Mabuchi, T., OZAWA, A., & Inoko, H. (2012) · The Journal of Dermatology · doi:10.1111/j.1346-8138.2012.01504.x · Cited by 63

The PSEN1, p.E318G Variant Increases the Risk of Alzheimer's Disease in APOE-ε4 Carriers

Benítez, B. A., Karch, C. M. M., Cai, Y., Jin, S. C., Cooper, B., Carrell, D., Bertelsen, S. E., Chibnik, L. B., Schneider, J. A., Bennett, D., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003685 · Cited by 68

Identification of schizophrenia-associated loci by combining DNA methylation and gene expression data from whole blood

van Eijk, K. R., de Jong, S., Strengman, E., Buizer‐Voskamp, J. E., Kahn, R. S., Boks, M. P., Horvath, S., & Ophoff, R. A. (2014) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.245 · Cited by 64

High Risk Population Isolate Reveals Low Frequency Variants Predisposing to Intracranial Aneurysms

Kurki, M., Gaál, E. I., Kettunen, J., Lappalainen, T., Menelaou, A., Anttila, V., Hof, F. N. G. V. ’., zu Fraunberg, M. V. U., Helisalmi, S., Hiltunen, M. O., et al. (2014) · PLoS Genetics · doi:10.1371/journal.pgen.1004134 · Cited by 64

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Graßmann, F., Kiel, C., Zimmermann, M. E., Gorski, M., Grassmann, V., Stark, K. J., Heid, I. M., & Weber, B. H. F. (2017) · Genome Medicine · doi:10.1186/s13073-017-0418-0 · Cited by 61

A review of gene-by-air pollution interactions for cardiovascular disease, risk factors, and biomarkers

Ward-Caviness, C. K. (2019) · Human Genetics · doi:10.1007/s00439-019-02004-w · Cited by 62

Use of support vector machines for disease risk prediction in genome-wide association studies: Concerns and opportunities

Mittag, F., Büchel, F., Saad, M., Jahn, A., Schulte, C., Bochdanovits, Z., Simón‐Sánchez, J., Nalls, M. A., Keller, M. F., Hernandez, D. G., et al. (2012) · Human Mutation · doi:10.1002/humu.22161 · Cited by 56

An autosomal recessive DNASE1L3 -related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus

Carbonella, A., Mancano, G., Gremese, E., Alkuraya, F. S., Patel, N., Gurrieri, F., & Ferraccioli, G. (2016) · Lupus · doi:10.1177/0961203316676382 · Cited by 55

Global and local ancestry in African‐Americans: Implications for Alzheimer's disease risk

Hohman, T. J., Bailey, J. N. C., Reitz, C., Jun, G., Naj, A. C., Beecham, G. W., Liu, Z., Carney, R. M., Vance, J. M., Cuccaro, M. L., et al. (2015) · Alzheimer s & Dementia · doi:10.1016/j.jalz.2015.02.012 · Cited by 55

Linkage-Disequilibrium-Based Binning Affects the Interpretation of GWASs

Christoforou, A., Dondrup, M., Mattingsdal, M., Mattheisen, M., Giddaluru, S., Nöthen, M. M., Rietschel, M., Cichon, S., Djurovic, S., Andreassen, O. A., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.02.025 · Cited by 57

Finding the missing heritability of complex diseases

Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336

Genetic Basis of Complex Genetic Disease: The Contribution of Disease Heterogeneity to Missing Heritability

Wray, N. R., & Maier, R. (2014) · Current Epidemiology Reports · doi:10.1007/s40471-014-0023-3 · Cited by 67

Missing Heritability of Complex Traits and Diseases

Nolte, I. M., Tropf, F. C., & Snieder, H. (2019) · Wiley eBooks · doi:10.1002/9780470015902.a0028223 · Cited by 13

Haplotypes of common SNPs can explain missing heritability of complex diseasesPreprint

Bhatia, G., Gusev, A., Loh, P., Vilhjálmsson, B. J., Ripke, S., Purcell, S., Stahl, E. A., Daly, M. J., de Candia, T. R., Kendler, K. S., et al. (2015) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/022418 · Cited by 19

Missing heritability of complex diseases: case solved?

Génin, E. (2019) · Human Genetics · doi:10.1007/s00439-019-02034-4 · Cited by 219