Pajukanta, Päivi

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

Nordestgaard, B. G., Chapman, M. J., Humphries, S. E., Ginsberg, H. N., Masana, L., Descamps, O. S., Wiklund, O., Hegele, R. A., Raal, F. J., Defesche, J. C., et al. (2013) · European Heart Journal

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 2,761

Integrative approaches for large-scale transcriptome-wide association studies

Gusev, A., Ko, A., Shi, H., Bhatia, G., Chung, W., Penninx, B. W. J. H., Jansen, R., de Geus, E. J. C., Boomsma, D. I., Wright, F. A., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,479

The power of genetic diversity in genome-wide association studies of lipids

Graham, S. E., Clarke, S. L., Wu, K.-H. H., Kanoni, S., Zajac, G. J. M., Ramdas, S., Surakka, I., Ntalla, I., Vedantam, S., Winkler, T. W., et al. (2021) · Nature

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 972

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment

Wiegman, A., Gidding, S. S., Watts, G. F., Chapman, M. J., Ginsberg, H. N., Cuchel, M., Ose, L., Averna, M., Boileau, C., Borén, J., et al. (2015) · European Heart Journal

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 891

A saturated map of common genetic variants associated with human height

Yengo, L., Vedantam, S., Marouli, E., Sidorenko, J., Bartell, E., Sakaue, S., Graff, M., Eliasen, A. U., Jiang, Y., Raghavan, S., et al. (2022) · Nature

Genetic Associations and EpidemiologyGenetics and Physical Performance

Cited by 825

The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management

Hegele, R. A., Ginsberg, H. N., Chapman, M. J., Nordestgaard, B. G., Kuivenhoven, J. A., Averna, M., Borén, J., Bruckert, E., Catapano, A. L., Descamps, O. S., et al. (2014) · The Lancet Diabetes & Endocrinology

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 635

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia.

Péterfy, M., Ben-Zeev, O., Mao, H. Z., Weissglas-Volkov, D., Aouizerat, B. E., Pullinger, C. R., Frost, P. H., Kane, J. P., Malloy, M. J., Reue, K., et al. (2007) · Nature Genetics

Lipid metabolism and disordersLipid metabolism and biosynthesis

Cited by 226

A Systems Genetics Approach Implicates USF1, FADS3, and Other Causal Candidate Genes for Familial Combined Hyperlipidemia

Plaisier, C. L., Horvath, S., Huertas-Vazquez, A., Cruz-Bautista, I., Herrera, M. F., Tusie-Luna, T., Aguilar-Salinas, C., & Pajukanta, P. (2009) · PLoS Genetics

Genetic Associations and EpidemiologyLipid metabolism and disorders

Cited by 163

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits

Freund, M. K., Burch, K. S., Shi, H., Mancuso, N., Kichaev, G., Garske, K. M., Pan, D. Z., Miao, Z., Mohlke, K. L., Laakso, M., et al. (2018) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 102

Enhancing droplet-based single-nucleus RNA-seq resolution using the semi-supervised machine learning classifier DIEM

Alvarez, M., Rahmani, E., Jew, B., Garske, K. M., Miao, Z., Benhammou, J. N., Ye, C. J., Pisegna, J. R., Pietiläinen, K. H., Halperin, E., et al. (2020) · Scientific Reports

Single-cell and spatial transcriptomicsGene expression and cancer classification

Cited by 93

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans

Weissglas-Volkov, D., Calkin, A. C., Tusie-Luna, T., Sinsheimer, J. S., Zelcer, N., Riba, L., Tino, A. M. V., Ordoñez-Sánchez, M. L., Cruz-Bautista, I., Aguilar-Salinas, C. A., et al. (2011) · Journal of Clinical Investigation

Lipoproteins and Cardiovascular HealthCholesterol and Lipid Metabolism

Cited by 66

The contribution of GWAS loci in familial dyslipidemias

Ripatti, P., Rämö, J. T., Söderlund, S., Surakka, I., Matikainen, N., Pirinen, M., Pajukanta, P., Sarin, A.-P., Service, S. K., Laurila, P.-P., et al. (2016) · PLOS Genetics

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 60