Candidate-gene approaches for studying complex genetic traits: practical considerations

Initial sequencing and analysis of the human genome

International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216

Molecular portraits of human breast tumours

Perou, C., Sørlie, T., Eisen, M., van de Rijn, M., Jeffrey, S., Rees, C. A., Pollack, J., Ross, D., Johnsen, H., Akslen, L., et al. (2000) · Nature · doi:10.1038/35021093 · Cited by 16,551

The sequence of the human genome

Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909

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

The Future of Genetic Studies of Complex Human Diseases

Risch, N., & Merikangas, K. (1996) · Science · doi:10.1126/science.273.5281.1516 · Cited by 5,355

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

A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms

The International SNP Map Working Group, Laboratories:, C. S. H., Sachidanandam, R., Weissman, D., Schmidt, S. C., Kakol, J. M., Stein, L. D., National Center for Biotechnology Information:, Marth, G., Sherry, S., et al. (2001) · Nature · doi:10.1038/35057149 · Cited by 2,977

Amino Acid Difference Formula to Help Explain Protein Evolution

Grantham, R. L. (1974) · Science · doi:10.1126/science.185.4154.862 · Cited by 2,363

Epidemiology in Medicine

Hennekens, C. H., Buring, J. E., & Mayrent, S. L. (1987) · Medical Entomology and Zoology · Cited by 2,319

Listening to silence and understanding nonsense: exonic mutations that affect splicing

Cartegni, L., Chew, S. L., & Krainer, A. R. (2002) · Nature Reviews Genetics · doi:10.1038/nrg775 · Cited by 2,209

‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease?*

Davey Smith, G., & Ebrahim, S. (2003) · International Journal of Epidemiology · doi:10.1093/ije/dyg070 · Cited by 5,882

Mendelian randomization: Using genes as instruments for making causal inferences in epidemiology

Lawlor, D. A., Harbord, R. M., Sterne, J. A. C., Timpson, N., & Davey Smith, G. (2008) · Statistics in Medicine · doi:10.1002/sim.3034 · Cited by 4,618

Genome-wide association studies for common diseases and complex traits

Hirschhorn, J. N., & Daly, M. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1521 · Cited by 2,923

Landscape genetics: combining landscape ecology and population genetics

Manel, S., Schwartz, M. K., Luikart, G., & Taberlet, P. (2003) · Trends in Ecology & Evolution · doi:10.1016/s0169-5347(03)00008-9 · Cited by 1,859

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

Lohmueller, K. E., Pearce, C. L., Pike, M., Lander, E. S., & Hirschhorn, J. N. (2003) · Nature Genetics · doi:10.1038/ng1071 · Cited by 1,900

National Institute of Neurological Disorders and Stroke–Canadian Stroke Network Vascular Cognitive Impairment Harmonization Standards

Hachinski, V., Iadecola, C., Petersen, R. C., Breteler, M. M., Nyenhuis, D. L., Black, S. E., Powers, W. J., DeCarli, C., Merino, J. G., Kalaria, R. N., et al. (2006) · Stroke · doi:10.1161/01.str.0000237236.88823.47 · Cited by 1,722

Status and Prospects of Association Mapping in Plants

Zhu, C., Gore, M. A., Buckler, E. S., & Yu, J. (2008) · The Plant Genome · doi:10.3835/plantgenome2008.02.0089 · Cited by 1,395

Population stratification and spurious allelic association

Cardon, L. R., & Palmer, L. J. (2003) · The Lancet · doi:10.1016/s0140-6736(03)12520-2 · Cited by 1,189

Vasopressin and oxytocin release within the brain: a dynamic concept of multiple and variable modes of neuropeptide communication

Landgraf, R., & Neumann, I. D. (2004) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2004.05.001 · Cited by 1,059

How to Interpret a Genome-wide Association Study

Pearson, T. A. (2008) · JAMA · doi:10.1001/jama.299.11.1335 · Cited by 1,005

DNA molecular markers in plant breeding: current status and recent advancements in genomic selection and genome editing

Nadeem, M. A., Nawaz, M. A., Shahid, M. Q., Doğan, Y., Cömertpay, G., Yıldız, M., Hatipoğlu, R., Ahmad, F., Alsaleh, A., Labhane, N. M., et al. (2017) · Biotechnology & Biotechnological Equipment · doi:10.1080/13102818.2017.1400401 · Cited by 922

Strategy for Investigating Interactions Between Measured Genes and Measured Environments

Moffitt, T. E., Caspi, A., & Rutter, M. (2005) · Archives of General Psychiatry · doi:10.1001/archpsyc.62.5.473 · Cited by 784

An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis

Tokuhiro, S., Yamada, R., Chang, X., Suzuki, A., Kochi, Y., Sawada, T., Suzuki, M., Nagasaki, M., Ohtsuki, M., Ono, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1267 · Cited by 624

DNA Pooling: a tool for large-scale association studies

Sham, P. C., Bader, J. S., Craig, I., O’Donovan, M. C., & Owen, M. J. (2002) · Nature Reviews Genetics · doi:10.1038/nrg930 · Cited by 549

FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization

Yuan, H., Chiou, J.-J., Tseng, W.-H., Liu, C.-H., Liu, C.-K., Lin, Y.-J., Wang, H.-H., Yao, A., Chen, Y., & Hsu, C. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl236 · Cited by 510

Association genetics of complex traits in conifers

Neale, D. B., & Savolainen, O. (2004) · Trends in Plant Science · doi:10.1016/j.tplants.2004.05.006 · Cited by 513

Partition-Ligation–Expectation-Maximization Algorithm for Haplotype Inference with Single-Nucleotide Polymorphisms

Qin, Z. S., Niu, T., & Liu, J. S. (2002) · The American Journal of Human Genetics · doi:10.1086/344207 · Cited by 489

Cytochrome P450 CYP1A1: wider roles in cancer progression and prevention

Androutsopoulos, V. P., Tsatsakis, A. M., & Spandidos, D. A. (2009) · BMC Cancer · doi:10.1186/1471-2407-9-187 · Cited by 493

Essential hypertension

Staessen, J. A., Wang, J., Bianchi, G., & Birkenhäger, W. H. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13302-8 · Cited by 493

What makes a good genetic association study?

Hattersley, A. T., & McCarthy, M. I. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67531-9 · Cited by 471

Association studies for finding cancer-susceptibility genetic variants

Pharoah, P. D. P., Dunning, A. M., Ponder, B. A. J., & Easton, D. F. (2004) · Nature reviews. Cancer · doi:10.1038/nrc1476 · Cited by 460

Are there genetic influences on addiction: evidence from family, adoption and twin studies

Arpana Agrawal, A., & Lynskey, M. T. (2008) · Addiction · doi:10.1111/j.1360-0443.2008.02213.x · Cited by 453

Measured Gene-Environment Interactions in Psychopathology: Concepts, Research Strategies, and Implications for Research, Intervention, and Public Understanding of Genetics

Moffitt, T. E., Caspi, A., & Rutter, M. (2006) · Perspectives on Psychological Science · doi:10.1111/j.1745-6916.2006.00002.x · Cited by 389

Sequencing breakthroughs for genomic ecology and evolutionary biology

Hudson, M. E. (2007) · Molecular Ecology Resources · doi:10.1111/j.1471-8286.2007.02019.x · Cited by 391

Binge Eating as a Major Phenotype of Melanocortin 4 Receptor Gene Mutations

Branson, R., Potoczna, N., Kral, J. G., Lentes, K., Hoehe, M. R., & Horber, F. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa021971 · Cited by 367

The complex genetic epidemiology of prostate cancer

Schaid, D. J. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh072 · Cited by 369

Challenges for identifying functionally important genetic variation: the promise of combining complementary research strategies

Vasemägi, A., & Primmer, C. R. (2005) · Molecular Ecology · doi:10.1111/j.1365-294x.2005.02690.x · Cited by 372

Nutritional genomics: the next frontier in the postgenomic era

Kaput, J., & Rodriguez, R. L. (2004) · Physiological Genomics · doi:10.1152/physiolgenomics.00107.2003 · Cited by 364

Candidate Gene Identification Approach: Progress and Challenges

Zhu, M., & Zhao, S. (2007) · International Journal of Biological Sciences · doi:10.7150/ijbs.3.420 · Cited by 360

Increased risk of incident HIV during pregnancy in Rakai, Uganda: a prospective study

Gray, R. H., Li, X., Kigozi, G., Serwadda, D., Brahmbhatt, H., Wabwire‐Mangen, F., Nalugoda, F. K., Kiddugavu, M., Sewankambo, N. K., Quinn, T. C., et al. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67481-8 · Cited by 366

Genetic Polymorphisms and the Progression of Liver Fibrosis: A Critical Appraisal

Bataller, R. A., North, K. E., & Brenner, D. A. (2003) · Hepatology · doi:10.1053/jhep.2003.50127 · Cited by 356

Systematic Evaluation of Molecular Networks for Discovery of Disease Genes

Huang, J. K., Carlin, D. E., Yu, M. K., Zhang, W., Kreisberg, J. F., Tamayo, P., & Ideker, T. (2018) · Cell Systems · doi:10.1016/j.cels.2018.03.001 · Cited by 289

Target discovery

Lindsay, M. A. (2003) · Nature Reviews Drug Discovery · doi:10.1038/nrd1202 · Cited by 343

The Inherited Basis of Diabetes Mellitus: Implications for the Genetic Analysis of Complex Traits

Florez, J. C., Hirschhorn, J., & Altshuler, D. (2003) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.4.070802.110436 · Cited by 329

Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context

Chen, H., Wilkins, L. M., Aziz, N., Cannings, C., Wyllie, D. H., Bingle, C. D., Rogus, J. J., Beck, J. D., Offenbacher, S., Cork, M. J., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddi469 · Cited by 309

Association Genetics in Pinus taeda L. I. Wood Property Traits

González‐Martínez, S. C., Wheeler, N. C., Ersoz, E. S., Nelson, C. D., & Neale, D. B. (2006) · Genetics · doi:10.1534/genetics.106.061127 · Cited by 301

Genetic epidemiology and public health: hope, hype, and future prospects

Smith, G. D., Ebrahim, S. B. J., Lewis, S. J., Hansell, A., Palmer, L. J., & Burton, P. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67601-5 · Cited by 301

Identification of genetic risk factors for periodontitis and possible mechanisms of action

Loos, B. G., John, R. P., & Laine, M. L. (2005) · Journal Of Clinical Periodontology · doi:10.1111/j.1600-051x.2005.00806.x · Cited by 295

The Complexity of Age-Related Hearing Impairment: Contributing Environmental and Genetic Factors

Eyken, E. V., Camp, G. V., & Laer, L. V. (2007) · Audiology and Neurotology · doi:10.1159/000106478 · Cited by 136

Genetic association studies of complex traits: design and analysis issues

Newton‐Cheh, C., & Hirschhorn, J. N. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.01.006 · Cited by 285

Variability of the SIRT3 gene, human silent information regulator Sir2 homologue, and survivorship in the elderly

Rose, G., Dato, S., Altomare, K., Bellizzi, D., Garasto, S., Greco, V, Passarino, G., Feraco, E., Mari, V, Barbi, C., et al. (2003) · Experimental Gerontology · doi:10.1016/s0531-5565(03)00209-2 · Cited by 282

Genetic susceptibility to periodontitis

Laine, M. L., Wim Crielaard, A., & Loos, B. G. (2011) · Periodontology 2000 · doi:10.1111/j.1600-0757.2011.00415.x · Cited by 272

Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration

Swaroop, A., Chew, E. Y., Bowes Rickman, C., & Abecasis, G. R. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164350 · Cited by 270

Pharmacogenetics and drug development: the path to safer and more effective drugs

Roses, A. D. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1432 · Cited by 269

Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome epidemiology

Burton, P. R., Hansell, A., Fortier, I., Manolio, T. A., Khoury, M. J., Little, J., & Elliott, P. (2008) · International Journal of Epidemiology · doi:10.1093/ije/dyn147 · Cited by 266

Commonly Studied Single-Nucleotide Polymorphisms and Breast Cancer: Results From the Breast Cancer Association Consortium

The Breast Cancer Association Consortium (2006) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djj374 · Cited by 258

Quantitative trait loci mapped to single-nucleotide resolution in yeast

Deutschbauer, A. M., & Davis, R. W. (2005) · Nature Genetics · doi:10.1038/ng1674 · Cited by 257

Assessment of two flexible and compatible SNP genotyping platforms: TaqMan® SNP Genotyping Assays and the SNPlex™ Genotyping System

Vega, F. M. D. L., Lazaruk, K. D., Rhodes, M. D., & Wenz, M. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.01.008 · Cited by 259

Genetic Risk Factors for Post-Infectious Irritable Bowel Syndrome Following a Waterborne Outbreak of Gastroenteritis

Villani, A., Lemire, M., Thabane, M., Belisle, A., Geneau, G., Garg, A. X., Clark, W. F., Moayyedi, P., Collins, S. M., Franchimont, D., et al. (2010) · Gastroenterology · doi:10.1053/j.gastro.2009.12.049 · Cited by 244

Addictions Biology: Haplotype-Based Analysis for 130 Candidate Genes on a Single Array

Hodgkinson, C. A., Yuan, Q., Xu, K., Shen, P., Heinz, E., Lobos, E. A., Binder, E. B., Cubells, J. F., Ehlers, C. L., Gelernter, J. E., et al. (2008) · Alcohol and Alcoholism · doi:10.1093/alcalc/agn032 · Cited by 237

Shaking the tree: mapping complex disease genes with linkage disequilibrium

Palmer, L. J., & Cardon, L. R. (2005) · The Lancet · doi:10.1016/s0140-6736(05)67485-5 · Cited by 235

MALDI-TOF Mass Spectrometry : A Versatile Tool for High-Performance DNA Analysis

Jurinke, C., Oeth, P. A., & van den Boom, D. (2004) · Molecular Biotechnology · doi:10.1385/mb:26:2:147 · Cited by 224

Common Variation in the Fat Mass and Obesity-Associated (FTO) Gene Confers Risk of Obesity and Modulates BMI in the Chinese Population

Chang, Y., Liu, P., Lee, W., Chang, T., Jiang, Y., Li, H., Kuo, S., Lee, K.-C., & Chuang, L. (2008) · Diabetes · doi:10.2337/db08-0377 · Cited by 224

Oral biofilm‐associated diseases: trends and implications for quality of life, systemic health and expenditures

Beikler, T., & Flemmig, T. F. (2010) · Periodontology 2000 · doi:10.1111/j.1600-0757.2010.00360.x · Cited by 211

Integration of text- and data-mining using ontologies successfully selects disease gene candidates

Tiffin, N. (2005) · Nucleic Acids Research · doi:10.1093/nar/gki296 · Cited by 210

Large-Scale Identification and Analysis of Genome-Wide Single-Nucleotide Polymorphisms for Mapping in Arabidopsis thalianaPreprint

Schmid, K. J., Sörensen, T. R., Stracke, R., Törjék, O., Törjék, O., Mitchel-Olds, T., & Weisshaar, B. (2003) · Genome Research · doi:10.1101/gr.728603 · Cited by 209

Candidate Gene Association Mapping of Arabidopsis Flowering Time

Ehrenreich, I. M., Hanzawa, Y., Chou, L., Roe, J. L., Kover, P. X., & Purugganan, M. D. (2009) · Genetics · doi:10.1534/genetics.109.105189 · Cited by 210

Recent Developments in Genomewide Association Scans: A Workshop Summary and Review

Thomas, D. C., Haile, R. W., & Duggan, D. J. (2005) · The American Journal of Human Genetics · doi:10.1086/432962 · Cited by 202

Alzheimer's disease: one disorder, too many genes?

Bertram, L. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh077 · Cited by 204

"Contrasting Patterns of Selection at Pinus pinaster Ait. Drought Stress Candidate Genes as Revealed by Genetic Differentiation Analyses"

Eveno, E., Collada, C., Guevara, M. Á., Léger, V., Soto, Á., Diaz, L., Leger, P., González‐Martínez, S. C., Cervera, M., Plomion, C., et al. (2007) · Molecular Biology and Evolution · doi:10.1093/molbev/msm272 · Cited by 198

Genetic and Environmental Influences on Antisocial Behaviors: Evidence from Behavioral–Genetic Research

Moffitt, T. E. (2005) · Advances in genetics · doi:10.1016/s0065-2660(05)55003-x · Cited by 200

Genetic susceptibility to the respiratory effects of air pollution

Yang, I. A., Fong, K. M., Zimmerman, P. V., Holgate, S. T., & Holloway, J. W. (2008) · Thorax · doi:10.1136/thx.2007.079426 · Cited by 188

SNP discovery in associating genetic variation with human disease phenotypes

Suh, Y., & Vijg, J. (2005) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2005.01.005 · Cited by 191

Genetic Association Studies in Epilepsy: “The Truth Is Out There”

Tan, N. C., Mulley, J. C., & Berkovic, S. F. (2004) · Epilepsia · doi:10.1111/j.0013-9580.2004.22904.x · Cited by 183

Genome-Wide Association Studies of Cancer

Stadler, Z. K., Thom, P., Robson, M. E., Weitzel, J. N., Kauff, N. D., Hurley, K. E., Devlin, V., Gold, B., Klein, R. J., & Offit, K. (2010) · Journal of Clinical Oncology · doi:10.1200/jco.2009.25.7816 · Cited by 188

A candidate gene association study on muscat flavor in grapevine (Vitis vinifera L.)

Emanuelli, F., Battilana, J., Costantini, L., Cunff, L. L., Boursiquot, J., This, P., & Grando, S. (2010) · BMC Plant Biology · doi:10.1186/1471-2229-10-241 · Cited by 194

Clinical relevance of advances in genetics and pharmacogenetics of IBD

Ahmad, T., Tamboli, C., Jewell, D. P., & Colombel, J. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.01.061 · Cited by 181

Identification of novel causative genes determining the complex trait of high ethanol tolerance in yeast using pooled-segregant whole-genome sequence analysisPreprint

Swinnen, S., Schaerlaekens, K., Pais, T. M., Claesen, J., Hubmann, G., Yang, Y., Demeke, M. M., Foulquié-Moreno, M. R., Goovaerts, A., Souvereyns, K., et al. (2012) · Genome Research · doi:10.1101/gr.131698.111 · Cited by 179

G2D: a tool for mining genes associated with disease

Perez‐Iratxeta, C., Wjst, M., Peer Bork, B., & Andrade-Navarro, M. A. (2005) · BMC Genetics · doi:10.1186/1471-2156-6-45 · Cited by 178

Autism and environmental genomics

Herbert, M. R., Russo, J. P., Yang, S., Roohi, J., Blaxill, M. F., Kahler, S. G., Cremer, L., & Hatchwell, E. (2006) · NeuroToxicology · doi:10.1016/j.neuro.2006.03.017 · Cited by 167

Genetics of inflammatory bowel disease: beyond NOD2

Mirkov, M. U., Verstockt, B., & Cleynen, I. (2017) · The Lancet. Gastroenterology & hepatology · doi:10.1016/s2468-1253(16)30111-x · Cited by 179

Overlaps Between Autism and Language Impairment: Phenomimicry or Shared Etiology?

Bishop, D. V. M. (2010) · Behavior Genetics · doi:10.1007/s10519-010-9381-x · Cited by 169

Tandem repeat polymorphisms: modulators of disease susceptibility and candidates for ‘missing heritability’

Hannan, A. J. (2010) · Trends in Genetics · doi:10.1016/j.tig.2009.11.008 · Cited by 156

Genomic selection in forest tree breeding: the concept and an outlook to the future

Işik, F. (2014) · New Forests · doi:10.1007/s11056-014-9422-z · Cited by 172

Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants

Elosúa, R., Sayols-Baixeras, S., Lluís-Ganella, C., & Lucas, G. (2014) · The Application of Clinical Genetics · doi:10.2147/tacg.s35301 · Cited by 169

Network-Based Multiple Sclerosis Pathway Analysis with GWAS Data from 15,000 Cases and 30,000 Controls

Baranzini, S. E., Khankhanian, P., Patsopoulos, N. A., Li, M., Stankovich, J. M., Cotsapas, C. J., Søndergaard, H. B., Ban, M., Barizzone, N., Bergamaschi, L., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.019 · Cited by 162

Neurofibromatosis type 1: from genotype to phenotype

Pasmant, É., Vidaud, M., Vidaud, D., & Wolkenstein, P. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-100978 · Cited by 169

Unique roles of rare variants in the genetics of complex diseases in humans

Momozawa, Y., & Mizukami, K. (2021) · Journal of Human Genetics · doi:10.1038/s10038-020-00845-2 · Cited by 161

SNP and haplotype variation in the human genome.

Salisbury, B. A., Pungliya, M., Choi, J. Y., Jiang, R., Sun, X., & Stephens, J. (2003) · Mutation research · doi:10.1016/s0027-5107(03)00014-9 · Cited by 170

A genome-wide SNP-association study confirms a sequence variant (g.66493737C>T) in the equine myostatin (MSTN) gene as the most powerful predictor of optimum racing distance for Thoroughbred racehorses

Hill, E. W., McGivney, B. A., Gu, J., Whiston, R., & MacHugh, D. E. (2010) · BMC Genomics · doi:10.1186/1471-2164-11-552 · Cited by 161

Computational approaches to disease‐gene prediction: rationale, classification and successes

Piro, R. M., & Cunto, F. D. (2012) · FEBS Journal · doi:10.1111/j.1742-4658.2012.08471.x · Cited by 156

A comprehensive review of the genetics of juvenile idiopathic arthritis

Prahalad, S., & Glass, D. N. (2008) · Pediatric Rheumatology · doi:10.1186/1546-0096-6-11 · Cited by 160

Common gene polymorphisms and nutrition: emerging links with pathogenesis of multifactorial chronic diseases (review)

Loktionov, A. (2003) · The Journal of Nutritional Biochemistry · doi:10.1016/s0955-2863(03)00032-9 · Cited by 158

Identification of a novel neuregulin 1 at-risk haplotype in Han schizophrenia Chinese patients, but no association with the Icelandic/Scottish risk haplotype

Li, T., Stefánsson, H., Gudfinnsson, E., Cai, G., Liu, X., Murray, R. M., Steinthórsdóttir, V., Januel, D., Gudnadottir, V. G., Pétursson, H., et al. (2004) · Molecular Psychiatry · doi:10.1038/sj.mp.4001485 · Cited by 156

Betting Odds and Genetic Associations

Thomas, D. C., & Clayton, D. G. (2004) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djh094 · Cited by 151

Candidate gene association studies: a comprehensive guide to useful in silicotools

Patnala, R., Clements, J. A., & Batra, J. (2013) · BMC Genetics · doi:10.1186/1471-2156-14-39 · Cited by 154

Opportunities and Challenges Associated with Clinical Diagnostic Genome Sequencing

Schrijver, I., Aziz, N., Farkas, D. H., Furtado, M. R., Gonzalez, A. F., Greiner, T. C., Grody, W. W., Hambuch, T. M., Kalman, L. V., Kant, J. A., et al. (2012) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2012.04.006 · Cited by 150

False discoveries and models for gene discovery

van den Oord, E. J. C. G., & Sullivan, P. F. (2003) · Trends in Genetics · doi:10.1016/j.tig.2003.08.003 · Cited by 147

Functional Markers for Precision Plant Breeding

Salgotra, R. K., & Stewart, C. N. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21134792 · Cited by 165

Optimal two‐stage genotyping in population‐based association studies

Satagopan, J. M., & Elston, R. C. (2003) · Genetic Epidemiology · doi:10.1002/gepi.10260 · Cited by 147

Computational disease gene identification: a concert of methods prioritizes type 2 diabetes and obesity candidate genes

Tiffin, N. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl381 · Cited by 148

Functional genomics of neural and behavioral plasticity

Hofmann, H. A. (2002) · Journal of Neurobiology · doi:10.1002/neu.10172 · Cited by 144

Genetic Association Studies in Stroke

Dichgans, M., & Markus, H. S. (2005) · Stroke · doi:10.1161/01.str.0000177498.21594.9e · Cited by 141

Identification of 127 amino acid substitution variants in screening 37 DNA repair genes in humans.

Mohrenweiser, H. W., Xi, T., Vázquez‐Matías, J., & Jones, I. M. (2002) · PubMed · Cited by 140

Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Sanna‐Cherchi, S., Caridi, G., Weng, P. L., Scolari, F., Perfumo, F., Gharavi, A. G., & Ghiggeri, G. M. (2007) · Pediatric Nephrology · doi:10.1007/s00467-007-0479-1 · Cited by 139

Genetic approaches to stature, pubertal timing, and other complex traits

Palmert, M. R., & Hirschhorn, J. N. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00107-0 · Cited by 135

Nutrigenomics research for personalized nutrition and medicine

Kaput, J. (2008) · Current Opinion in Biotechnology · doi:10.1016/j.copbio.2008.02.005 · Cited by 138

Functional variants of antioxidant genes in smokers with COPD and in those with normal lung function

Young, R. P. (2006) · Thorax · doi:10.1136/thx.2005.048512 · Cited by 133

Cytochrome P-450 1A1 Gene Polymorphisms and Risk of Breast Cancer: A HuGE Review

Masson, L. F., Sharp, L., Cotton, S. C., & Little, J. (2005) · American Journal of Epidemiology · doi:10.1093/aje/kwi121 · Cited by 132

Genetic variations related to hypertension: a review

Tanira, M. O. M., & Al-Balushi, K. (2004) · Journal of Human Hypertension · doi:10.1038/sj.jhh.1001780 · Cited by 126

Epidemiologic Considerations in Complex Disease Genetics: Figure 1.Preprint

Gallacher, J. (2011) · Cold Spring Harbor Protocols · doi:10.1101/pdb.top067512

Association study designs for complex diseases

Cardon, L. R., & Bell, J. I. (2001) · Nature Reviews Genetics · doi:10.1038/35052543 · Cited by 1,395

Genetic Approaches to Studying Common Diseases and Complex Traits

Hirschhorn, J. N. (2005) · Pediatric Research · doi:10.1203/01.pdr.0000159574.98964.87 · Cited by 96

A QUANTITATIVE ANALYSIS OF DISCREPANCIES BETWEEN CANDIDATE GENE AND GENOME-WIDE STUDIES OF COMPLEX TRAITS AND RELATED ENDOPHENOTYPES

Border, R., Johnson, E. C., Sullivan, P. F., Berley, N., & Keller, M. C. (2019) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2017.08.121

Genetic association studies.

Austin, M. A., Psaty, B. M., & Schwartz, S. (2013) · CABI eBooks · doi:10.1079/9781780641812.0068