McPherson, Ruth

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,434

Biological, clinical and population relevance of 95 loci for blood lipids

Teslovich, T. M., Musunuru, K., Smith, A. V., Edmondson, A. C., Stylianou, I. M., Koseki, M., Pirruccello, J. P., Ripatti, S., Chasman, D. I., Willer, C. J., et al. (2010) · Nature

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 3,487

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

DIAGRAM Consortium, Dupuis, J., GIANT Consortium, Global BPgen Consortium, Anders Hamsten on behalf of Procardis Consortium, the MAGIC investigators, Langenberg, C., Prokopenko, I., Saxena, R., Soranzo, N., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 2,166

Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease

Cardiogenics, Schunkert, H., the CARDIoGRAM Consortium, König, I. R., Kathiresan, S., Reilly, M. P., Assimes, T. L., Holm, H., Preuss, M., Stewart, A. F. R., et al. (2011) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,866

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

A Common Allele on Chromosome 9 Associated with Coronary Heart Disease

McPherson, R., Pertsemlidis, A., Kavaslar, N., Stewart, A., Roberts, R., Cox, D. R., Hinds, D. A., Pennacchio, L. A., Tybjaerg-Hansen, A., Folsom, A. R., et al. (2007) · Science

Genetic Associations and EpidemiologyCardiovascular Health and Risk Factors

Cited by 1,587

New genetic loci link adipose and insulin biology to body fat distribution

The ADIPOGen Consortium, Shungin, D., The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The GEFOS Consortium, The GENIE Consortium, The, G. L. G. C., The, I. C. B. P., The International Endogene Consortium, Study, T. L. C., et al. (2015) · Nature

Genetic Associations and EpidemiologyAdipokines, Inflammation, and Metabolic Diseases

Cited by 1,580

2016 Canadian Cardiovascular Society guidelines for the management of dyslipidemia for the prevention of cardiovascular disease in the adult

Anderson, T. J., Grégoire, J., Pearson, G. J., Barry, A. R., Couture, P., Dawes, M., Francis, G. A., Genest, J., Grover, S., Gupta, M., et al. (2016) · Canadian Journal of Cardiology

Lipoproteins and Cardiovascular HealthDiabetes, Cardiovascular Risks, and Lipoproteins

Cited by 1,173

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

Cohen, J. C., Kiss, R. S., Pertsemlidis, A., Marcel, Y. L., McPherson, R., & Hobbs, H. H. (2004) · Science

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 1,108

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia

Khera, A. V., Won, H.-H., Peloso, G. M., Lawson, K. S., Bartz, T. M., Deng, X., van Leeuwen, E. M., Natarajan, P., Emdin, C. A., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology

Lipoproteins and Cardiovascular HealthLipid metabolism and disorders

Cited by 942

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

Do, R., Stitziel, N. O., Won, H.-H., Jørgensen, A. B., Duga, S., Angelica Merlini, P., Kiezun, A., Farrall, M., Goel, A., Zuk, O., et al. (2015) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 650

Meta-analysis and imputation refines the association of 15q25 with smoking quantity

The Wellcome Trust Case Control Consortium, Liu, J. Z., Tozzi, F., Waterworth, D. M., Pillai, S. G., Muglia, P., Middleton, L., Berrettini, W., Knouff, C. W., Yuan, X., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologySmoking Behavior and Cessation

Cited by 614

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

Genetic Variants Influencing Circulating Lipid Levels and Risk of Coronary Artery Disease

Waterworth, D. M., Ricketts, S. L., Song, K., Chen, L., Zhao, J. H., Ripatti, S., Aulchenko, Y. S., Zhang, W., Yuan, X., Lim, N., et al. (2010) · Arteriosclerosis, Thrombosis, and Vascular Biology

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 405

Galactose Enhances Oxidative Metabolism and Reveals Mitochondrial Dysfunction in Human Primary Muscle Cells

Aguer, C., Gambarotta, D., Mailloux, R. J., Moffat, C., Dent, R., McPherson, R., & Harper, M.-E. (2011) · PLoS ONE

Mitochondrial Function and PathologyMetabolism, Diabetes, and Cancer

Cited by 276

Low copy number of the salivary amylase gene predisposes to obesity

Falchi, M., El-Sayed Moustafa, J. S., Takousis, P., Pesce, F., Bonnefond, A., Andersson-Assarsson, J. C., Sudmant, P. H., Dorajoo, R., Al-Shafai, M. N., Bottolo, L., et al. (2014) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 254

Phenotypic Characterization of Genetically Lowered Human Lipoprotein(a) Levels

Emdin, C. A., Khera, A. V., Natarajan, P., Klarin, D., Won, H.-H., Peloso, G. M., Stitziel, N. O., Nomura, A., Zekavat, S. M., Bick, A. G., et al. (2016) · Journal of the American College of Cardiology

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 244

Association of rare and common variation in the lipoprotein lipase gene with coronary artery disease

Khera, A. V., Won, H.-H., Peloso, G. M., O’Dushlaine, C., Liu, D., Stitziel, N. O., Natarajan, P., Nomura, A., Emdin, C. A., Gupta, N., et al. (2017) · JAMA

Lipid metabolism and disordersLipoproteins and Cardiovascular Health

Cited by 198

Integrative Genomics Reveals Novel Molecular Pathways and Gene Networks for Coronary Artery Disease

Mäkinen, V.-P., Civelek, M., Meng, Q., Zhang, B., Zhu, J., Levian, C., Huan, T., Segrè, A. V., Ghosh, S., Vivar, J., et al. (2014) · PLoS Genetics

Bioinformatics and Genomic NetworksGenetic Associations and Epidemiology

Cited by 196

Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability

Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 193

A Systems Biology Framework Identifies Molecular Underpinnings of Coronary Heart Disease

Huan, T., Zhang, B., Wang, Z., Joehanes, R., Zhu, J., Johnson, A. D., Ying, S., Munson, P. J., Raghavachari, N., Wang, R., et al. (2013) · Arteriosclerosis, Thrombosis, and Vascular Biology

Bioinformatics and Genomic NetworksGenetic Associations and Epidemiology

Cited by 167

Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study

Voight, B. F., Peloso, G. M., Orho-Melander, M., Frikke-Schmidt, R., Barbalic, M., Jensen, M. K., Hindy, G., Hólm, H., Ding, E. L., Johnson, T., et al. (2012) · The Lancet

Genetic Associations and EpidemiologyLipoproteins and Cardiovascular Health

Cited by 148