Palotie, Aarno

A framework for the interpretation of de novo mutation in human disease

Samocha, K. E., Robinson, E. B., Sanders, S. J., Stevens, C., Sabo, A., McGrath, L. M., Kosmicki, J. A., Rehnström, K., Mallick, S., Kirby, A., et al. (2014) · Nature Genetics

Genomics and Rare DiseasesAutism Spectrum Disorder Research

Cited by 979

Identification of seven loci affecting mean telomere length and their association with disease

CARDIoGRAM consortium, Codd, V., Nelson, C. P., Albrecht, E., Mangino, M., Deelen, J., Buxton, J. L., Hottenga, J. J., Fischer, K., Esko, T., et al. (2013) · Nature Genetics

Telomeres, Telomerase, and SenescenceGenetic Associations and Epidemiology

Cited by 933

Common variants associated with plasma triglycerides and risk for coronary artery disease

Do, R., Willer, C. J., Schmidt, E. M., Sengupta, S., Gao, C., Peloso, G. M., Gustafsson, S., Kanoni, S., Ganna, A., Chen, J., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 862

GWAS of 126,559 Individuals Identifies Genetic Variants Associated with Educational Attainment

Rietveld, C. A., Medland, S. E., Derringer, J., Yang, J., Esko, T., Martin, N. W., Westra, H.-J., Shakhbazov, K., Abdellaoui, A., Agrawal, A., et al. (2013) · Science

Genetic Associations and EpidemiologyCognitive Abilities and Testing

Cited by 827

Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals

Okbay, A., Wu, Y., Wang, N., Jayashankar, H., Bennett, M., Nehzati, S. M., Sidorenko, J., Kweon, H., Goldman, G., Gjorgjieva, T., et al. (2022) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 654

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

Berndt, S. I., Gustafsson, S., Mägi, R., Ganna, A., Wheeler, E., Feitosa, M. F., Justice, A. E., Monda, K. L., Croteau-Chonka, D. C., Day, F. R., et al. (2013) · Nature Genetics

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 646

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Fu, J. M., Satterstrom, F. K., Peng, M., Brand, H., Collins, R. L., Dong, S., Wamsley, B., Klei, L., Wang, L., Hao, S. P., et al. (2022) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 640

Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders

23andMe Research Team, Walters, R. K., Polimanti, R., Johnson, E. C., McClintick, J. N., Adams, M. J., Adkins, A. E., Aliev, F., Bacanu, S.-A., Batzler, A., et al. (2018) · Nature Neuroscience

Genetic Associations and EpidemiologySubstance Abuse Treatment and Outcomes

Cited by 632

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

Study, A. O. C., Perry, J. R. B., The GENICA Network, kConFab, Study, T. L. C., The InterAct Consortium, Early Growth Genetics (EGG) Consortium, Day, F., Elks, C. E., Sulem, P., et al. (2014) · Nature

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

Cited by 604

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

Study, T. L. C., Day, F. R., The InterAct Consortium, kConFab/AOCS Investigators, Endometrial Cancer Association Consortium, Ovarian Cancer Association Consortium, PRACTICAL consortium, Thompson, D. J., Helgason, H., Chasman, D. I., et al. (2017) · Nature Genetics

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

Cited by 587

Genome-wide association study identifies multiple loci influencing human serum metabolite levels

Kettunen, J., Tukiainen, T., Sarin, A.-P., Ortega-Alonso, A., Tikkanen, E., Lyytikäinen, L.-P., Kangas, A. J., Soininen, P., Würtz, P., Silander, K., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyMetabolomics and Mass Spectrometry Studies

Cited by 553

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease

Zanoni, P., Khetarpal, S. A., Larach, D. B., Hancock-Cerutti, W. F., Millar, J. S., Cuchel, M., DerOhannessian, S., Kontush, A., Surendran, P., Saleheen, D., et al. (2016) · Science

Cholesterol and Lipid MetabolismLipoproteins and Cardiovascular Health

Cited by 545

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

Gusev, A., Lee, S. H., Trynka, G., Finucane, H., Vilhjálmsson, B. J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. (2014) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 544

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

The GIANT Consortium, Elks, C. E., Perry, J. R. B., Sulem, P., Chasman, D. I., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., et al. (2010) · Nature Genetics

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

Cited by 504

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications

Epilepsy research and treatmentGenetic Associations and Epidemiology

Cited by 482

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 452

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., et al. (2014) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 439

Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)

Davies, G., Armstrong, N., Bis, J. C., Bressler, J., Chouraki, V, Giddaluru, S., Hofer, E., Ibrahim-Verbaas, C. A., Kirin, M., Lahti, J., et al. (2015) · Molecular Psychiatry

Genetic Associations and EpidemiologyCognitive Abilities and Testing

Cited by 384

The impact of low-frequency and rare variants on lipid levels

ENGAGE Consortium, Surakka, I., Horikoshi, M., Mägi, R., Sarin, A.-P., Mahajan, A., Lagou, V., Marullo, L., Ferreira, T., Miraglio, B., et al. (2015) · Nature Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 351

Meta-analysis of genome-wide association studies for neuroticism, and the polygenic association with major depressive disorder

de Moor, M. H. M., van den Berg, S. M., Verweij, K. J. H., Krueger, R. F., Luciano, M., Arias Vasquez, A., Matteson, L. K., Derringer, J., Esko, T., Amin, N., et al. (2015) · JAMA Psychiatry

Genetic Associations and EpidemiologyNeurotransmitter Receptor Influence on Behavior

Cited by 345

Biomarker Profiling by Nuclear Magnetic Resonance Spectroscopy for the Prediction of All-Cause Mortality: An Observational Study of 17,345 Persons

Fischer, K., Kettunen, J., Würtz, P., Haller, T., Havulinna, A. S., Kangas, A. J., Soininen, P., Esko, T., Tammesoo, M.-L., Mägi, R., et al. (2014) · PLoS Medicine

Metabolomics and Mass Spectrometry StudiesLipoproteins and Cardiovascular Health

Cited by 344

Genomic prediction of coronary heart disease

Abraham, G., Havulinna, A. S., Bhalala, O. G., Byars, S. G., De Livera, A. M., Yetukuri, L., Tikkanen, E., Perola, M., Schunkert, H., Sijbrands, E. J., et al. (2016) · European Heart Journal

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 338

Genetic evidence of assortative mating in humans

Robinson, M. R., Kleinman, A., Graff, M., Vinkhuyzen, A. A. E., Couper, D., Miller, M. B., Peyrot, W. J., Abdellaoui, A., Zietsch, B. P., Nolte, I. M., et al. (2017) · Nature Human Behaviour

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 326

Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

CHARGE-Heart Failure Consortium, Surendran, P., EchoGen Consortium, METASTROKE Consortium, GIANT Consortium, EPIC-InterAct Consortium, Study, L. C., Wellcome Trust Case Control Consortium, Understanding Society Scientific Group, EPIC-CVD Consortium, et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyBlood Pressure and Hypertension Studies

Cited by 312