Sulem, Patrick

Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome

Day, F. R., Hinds, D. A., Tung, J. Y., Stolk, L., Styrkarsdottir, U., Saxena, R., Bjonnes, A., Broer, L., Dunger, D. B., Halldorsson, B. V., et al. (2015) · Nature Communications

Ovarian function and disordersGenetic Associations and Epidemiology

Cited by 459

The sequences of 150,119 genomes in the UK Biobank

Halldorsson, B. V., Eggertsson, H. P., Moore, K. H. S., Hauswedell, H., Eiriksson, O., Ulfarsson, M. O., Palsson, G., Hardarson, M. T., Oddsson, A., Jensson, B. O., et al. (2022) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 448

Detection of sharing by descent, long-range phasing and haplotype imputation

Kong, A., Masson, G., Frigge, M. L., Gylfason, A., Zusmanovich, P., Thorleifsson, G., Olason, P. I., Ingason, A., Steinberg, S., Rafnar, T., et al. (2008) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 447

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

The PRACTICAL Consortium, Day, F. R., kConFab Investigators, AOCS Investigators, Scotland, G., EPIC-InterAct Consortium, Study, L. C., Ruth, K. S., Thompson, D. J., Lunetta, K. L., et al. (2015) · Nature Genetics

Genetic Associations and EpidemiologyBRCA gene mutations in cancer

Cited by 402

Two newly identified genetic determinants of pigmentation in Europeans

Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Jakobsdottir, M., Steinberg, S., Gudjonsson, S. A., Palsson, A., Thorleifsson, G., et al. (2008) · Nature Genetics

melanin and skin pigmentationGenetic Associations and Epidemiology

Cited by 368

Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease

DemGene, Steinberg, S., Stefansson, H., Jonsson, T., Johannsdottir, H., Ingason, A., Helgason, H., Sulem, P., Magnusson, O. T., Gudjonsson, S. A., et al. (2015) · Nature Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 324

Identification of a large set of rare complete human knockouts

Sulem, P., Helgason, H., Oddson, A., Stefansson, H., Gudjonsson, S. A., Zink, F., Hjartarson, E., Sigurdsson, G. T., Jonasdottir, A., Jonasdottir, A., et al. (2015) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 220

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

Sulem, P., Gudbjartsson, D. F., Rafnar, T., Holm, H., Olafsdottir, E. J., Olafsdottir, G. H., Jonsson, T., Alexandersen, P., Feenstra, B., Boyd, H. A., et al. (2009) · Nature Genetics

Hypothalamic control of reproductive hormonesGenetic Associations and Epidemiology

Cited by 219

Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease

Nioi, P., Sigurdsson, A., Thorleifsson, G., Helgason, H., Agustsdottir, A. B., Norddahl, G. L., Helgadottir, A., Magnusdottir, A., Jonasdottir, A., Gretarsdottir, S., et al. (2016) · New England Journal of Medicine

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 189

Relatedness disequilibrium regression estimates heritability without environmental bias

Young, A. I., Frigge, M. L., Gudbjartsson, D. F., Thorleifsson, G., Bjornsdottir, G., Sulem, P., Masson, G., Thorsteinsdottir, U., Stefansson, K., & Kong, A. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 173

Selection against variants in the genome associated with educational attainment

Kong, A., Frigge, M. L., Thorleifsson, G., Stefansson, H., Young, A. I., Zink, F., Jonsdottir, G. A., Okbay, A., Sulem, P., Masson, G., et al. (2017) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyIntergenerational and Educational Inequality Studies

Cited by 168

FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease

Saevarsdottir, S., Olafsdottir, T. A., Ivarsdottir, E. V., Halldorsson, G. H., Gunnarsdottir, K., Sigurdsson, A., Johannesson, A., Sigurdsson, J. K., Juliusdottir, T., Lund, S. H., et al. (2020) · Nature

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 137

15q11.2 CNV affects cognitive, structural and functional correlates of dyslexia and dyscalculia

Ulfarsson, M. O., Walters, G. B., Gustafsson, O., Steinberg, S., Silva, A., Doyle, O. M., Brammer, M., Gudbjartsson, D. F., Arnarsdottir, S., Jonsdottir, G. A., et al. (2017) · Translational Psychiatry

Genomic variations and chromosomal abnormalitiesReading and Literacy Development

Cited by 78

A common biological basis of obesity and nicotine addiction

Thorgeirsson, T. E., Gudbjartsson, D. F., Sulem, P., Besenbacher, S., Styrkarsdottir, U., Thorleifsson, G., Walters, G. B., TAG Consortium, Oxford-GSK Consortium, ENGAGE consortium, et al. (2013) · Translational Psychiatry

Smoking Behavior and CessationGenetic Associations and Epidemiology

Cited by 71

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46

A rare missense mutation in CHRNA4 associates with smoking behavior and its consequences

Thorgeirsson, T. E., Steinberg, S., Reginsson, G. W., Bjornsdottir, G., Rafnar, T., Jonsdottir, I., Helgadottir, A., Gretarsdottir, S., Helgadottir, H., Jonsson, S., et al. (2016) · Molecular Psychiatry

Smoking Behavior and CessationGenetic Associations and Epidemiology

Cited by 33

Deciphering the genetics and mechanisms of predisposition to multiple myeloma

Went, M., Duran-Lozano, L., Halldorsson, G. H., Gunnell, A., Ugidos-Damboriena, N., Law, P., Ekdahl, L., Sud, A., Thorleifsson, G., Thodberg, M., et al. (2024) · Nature Communications

Multiple Myeloma Research and TreatmentsGenetic Associations and Epidemiology

Cited by 30

Cholesterol not particle concentration mediates the atherogenic risk conferred by apolipoprotein B particles: a Mendelian randomization analysis

Helgadottir, A., Thorleifsson, G., Snaebjarnarson, A., Stefansdottir, L., Sveinbjornsson, G., Tragante, V., Björnsson, E., Steinthorsdottir, V., Gretarsdottir, S., Helgason, H., et al. (2022) · European Journal of Preventive Cardiology

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 30

PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

Deb, W., Rosenfelt, C., Vignard, V., Papendorf, J. J., Möller, S., Wendlandt, M., Studencka-Turski, M., Cogné, B., Besnard, T., Ruffier, L., et al. (2024) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 11