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The International HapMap Project

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

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Second-generation PLINK: rising to the challenge of larger and richer datasets

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A haplotype map of the human genome

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GenABEL: an R library for genome-wide association analysis

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Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits

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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

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High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios

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Loss-of-Function Mutations in APOC3, Triglycerides, and Coronary Disease

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An 18-kDa translocator protein (TSPO) polymorphism explains differences in binding affinity of the PET radioligand PBR28

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SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations

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The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic Fatty Liver Disease in Individuals of European Descent

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Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids

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Genomic evidence for the Pleistocene and recent population history of Native Americans

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Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson’s disease

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A genome-wide association study of alcohol dependence

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A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

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Genomic predictors of the maximal O2 uptake response to standardized exercise training programs

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The role of geography in human adaptation

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The first horse herders and the impact of early Bronze Age steppe expansions into Asia

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CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration

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Tracking footprints of artificial selection in the dog genome

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Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women

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The genetic prehistory of the New World Arctic

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Genomic Analyses from Non-invasive Prenatal Testing Reveal Genetic Associations, Patterns of Viral Infections, and Chinese Population History

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A High-Density Screen for Linkage in Multiple Sclerosis

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Polymorphisms in Inflammation-Related Genes Are Associated with Susceptibility to Major Depression and Antidepressant Response

Wong, M.-L., Dong, C., Maestre-Mesa, J., & Licinio, J. (2008) · Molecular Psychiatry · doi:10.1038/mp.2008.59 · Cited by 295

P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder

Lucae, S., Salyakina, D., Barden, N., Harvey, M., Gagné, B., Labbé, M., Binder, E. B., Uhr, M., Paez-Pereda, M., Sillaber, I., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl166 · Cited by 261

A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure

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Paragraph: a graph-based structural variant genotyper for short-read sequence data

Chen, S., Krusche, P., Dolzhenko, E., Sherman, R. M., Petrovski, R., Schlesinger, F., Kirsche, M., Bentley, D. R., Schatz, M. C., Sedlazeck, F. J., et al. (2019) · Genome Biology · doi:10.1186/s13059-019-1909-7 · Cited by 196

Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population

Liu, X., Kawamura, Y., Shimada, T., Otowa, T., Koishi, S., Sugiyama, T., Nishida, H., Hashimoto, O., Nakagami, R., Tochigi, M., et al. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2009.140 · Cited by 195

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration

Zareparsi, S., Buraczynska, M., Branham, K. E. H., Shah, S., Eng, D., Li, M., Pawar, H., Yashar, B. M., Moroi, S. E., Lichter, P. R., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi154 · Cited by 190

No evidence of a common DNA variant profile specific to world class endurance athletes.

Rankinen, T., Fuku, N., Wolfarth, B., Wang, G., Sarzynski, M. A., Alexeev, D. G., Ahmetov, I. I., Boulay, M. R., Cieszczyk, P., Eynon, N., et al. (2016) · PLOS ONE · doi:10.1371/journal.pone.0147330 · Cited by 171

Independent Susceptibility Markers for Atrial Fibrillation on Chromosome 4q25

Lubitz, S. A., Sinner, M. F., Lunetta, K. L., Makino, S., Pfeufer, A., Rahman, R., Veltman, C. E., Barnard, J., Bis, J. C., Danik, S. P., et al. (2010) · Circulation · doi:10.1161/circulationaha.109.886440 · Cited by 156

Genotoxic effects in swimmers exposed to disinfection by-products in indoor swimming pools

Kogevinas, M., Villanueva, C. M., Font-Ribera, L., Liviac, D., Bustamante, M., Espinoza, F., Nieuwenhuijsen, M. J., Espinosa, A., Fernandez, P., DeMarini, D. M., et al. (2010) · Environmental Health Perspectives · doi:10.1289/ehp.1001959 · Cited by 144

Association of FKBP5 Polymorphisms With Suicidal Events in the Treatment of Resistant Depression in Adolescents (TORDIA) Study

Brent, D., Melhem, N., Ferrell, R., Emslie, G., Wagner, K. D., Ryan, N., Vitiello, B., Birmaher, B., Mayes, T., Zelazny, J., et al. (2010) · American Journal of Psychiatry · doi:10.1176/appi.ajp.2009.09040576 · Cited by 138

Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences

Haber, M., Doumet-Serhal, C., Scheib, C., Xue, Y., Danecek, P., Mezzavilla, M., Youhanna, S., Martiniano, R., Prado-Martinez, J., Szpak, M., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.013 · Cited by 117

Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis

Alcina, A., Fedetz, M., Fernández, Ó., Saiz, A., Izquierdo, G., Lucas, M., Leyva, L., García-León, J.-A., Abad-Grau, M. D. M., Alloza, I., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101085 · Cited by 69

Type 2 deiodinase and host responses of sepsis and acute lung injury

Ma, S.-F., Xie, L., Pino-Yanes, M., Sammani, S., Wade, M. S., Letsiou, E., Siegler, J., Wang, T., Infusino, G., Kittles, R. A., et al. (2011) · American Journal of Respiratory Cell and Molecular Biology · doi:10.1165/rcmb.2011-0179oc · Cited by 60

Converging Evidence for an Association of ATP2B2 Allelic Variants with Autism in Male Subjects

Carayol, J., Sacco, R., Tores, F., Rousseau, F., Lewin, P., Hager, J., & Persico, A. M. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.05.020 · Cited by 59

Polymorphisms of the SHBG gene contribute to the interindividual variation of sex steroid hormone blood levels in young, middle-aged and elderly men

Vanbillemont, G., Bogaert, V., De Bacquer, D., Lapauw, B., Goemaere, S., Toye, K., Van Steen, K., Taes, Y., & Kaufman, J. (2009) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03365.x · Cited by 46

A Bayesian Integrative Genomic Model for Pathway Analysis of Complex Traits

Fridley, B. L., Lund, S., Jenkins, G. D., & Wang, L. (2012) · Genetic Epidemiology · doi:10.1002/gepi.21628 · Cited by 42

A Multi-Center Study of ACE and the Risk of Late-Onset Alzheimer's Disease

Belbin, O., Brown, K., Shi, H., Medway, C., Abraham, R., Passmore, P., Mann, D., Smith, A. D., Holmes, C., McGuinness, B., et al. (2011) · Journal of Alzheimer's Disease · doi:10.3233/jad-2011-101914 · Cited by 34

Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation

Norton, H. L., Edwards, M., Krithika, S., Johnson, M., Werren, E. A., & Parra, E. J. (2016) · American Journal of Physical Anthropology · doi:10.1002/ajpa.22861 · Cited by 30

New variants near RHOJ and C2, HLA-DRA region and susceptibility to endometriosis in the Polish population-The genome-wide association study

Sobalska-Kwapis, M., Smolarz, B., Słomka, M., Szaflik, T., Kępka, E., Kulig, B., Siewierska-Górska, A., Polak, G., Romanowicz, H., Strapagiel, D., et al. (2017) · European Journal of Obstetrics & Gynecology and Reproductive Biology · doi:10.1016/j.ejogrb.2017.08.037 · Cited by 29

An IL-13 promoter polymorphism associated with liver fibrosis in patients with Schistosoma japonicum

Long, X., Chen, Q., Zhao, J., Rafaels, N., Mathias, P., Liang, H., Potee, J., Campbell, M., Zhang, B., Gao, L., et al. (2015) · PLOS ONE · doi:10.1371/journal.pone.0135360 · Cited by 28

Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis

Alcina, A., Fernández, Ó., Gonzalez, J. R., Catalá-Rabasa, A., Fedetz, M., Ndagire, D., Leyva, L., Guerrero, M., Arnal, C., Delgado, C., et al. (2010) · European Journal of Human Genetics · doi:10.1038/ejhg.2009.240 · Cited by 27

A refined analysis of Neanderthal-introgressed sequences in modern humans with a complete reference genome

Liang, S.-A., Ren, T., Zhang, J., He, J., Wang, X., Jiang, X., He, Y., McCoy, R. C., Fu, Q., Akey, J. M., et al. (2025) · Genome Biology · doi:10.1186/s13059-025-03502-z · Cited by 8