Validating therapeutic targets through human genetics

A method and server for predicting damaging missense mutations.

Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194 · see citing works

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Kumar, P., Henikoff, S., & Ng, P. C. (2009) · Nature Protocols · doi:10.1038/nprot.2009.86 · Cited by 6,521 · see citing works

A haplotype map of the human genome

The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858 · see citing works

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

Lander, E. S., & Kruglyak, L. (1995) · Nature Genetics · doi:10.1038/ng1195-241 · Cited by 5,196 · see citing works

Network medicine: a network-based approach to human disease

Barabási, A.-L., Gulbahce, N., & Loscalzo, J. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2918 · Cited by 5,034 · see citing works

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

The International IBD Genetics Consortium (IIBDGC), Jostins, L., Ripke, S., Weersma, R. K., Duerr, R. H., McGovern, D. P., Hui, K. Y., Lee, J. C., Philip Schumm, L., Sharma, Y., et al. (2012) · Nature · doi:10.1038/nature11582 · Cited by 4,722 · see citing works

Complement factor H polymorphism in age-related macular degeneration

Klein, R. J., Zeiss, C., Chew, E. Y., Tsai, J.-Y., Sackler, R. S., Haynes, C., Henning, A. K., SanGiovanni, J. P., Mane, S. M., Mayne, S. T., et al. (2005) · Science · doi:10.1126/science.1109557 · Cited by 4,492 · see citing works

Can the pharmaceutical industry reduce attrition rates?

Kola, I., & Landis, J. (2004) · Nature Reviews Drug Discovery · doi:10.1038/nrd1470 · Cited by 4,167 · see citing works

Identification of the Cystic Fibrosis Gene: Genetic Analysis

Kerem, B.-S., Rommens, J. M., Buchanan, J. A., Markiewicz, D., Cox, T. K., Chakravarti, A., Buchwald, M., & Tsui, L.-C. (1989) · Science · doi:10.1126/science.2570460 · Cited by 4,142 · see citing works

Potential etiologic and functional implications of genome-wide association loci for human diseases and traits

Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013 · see citing works

Identification and characterization of a spinal muscular atrophy-determining gene

Lefebvre, S., Bürglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Bénichou, B., Cruaud, C., Millasseau, P., Zeviani, M., et al. (1995) · Cell · doi:10.1016/0092-8674(95)90460-3 · Cited by 3,995 · see citing works

How to improve R&D productivity: the pharmaceutical industry's grand challenge

Paul, S. M., Mytelka, D. S., Dunwiddie, C. T., Persinger, C. C., Munos, B. H., Lindborg, S. R., & Schacht, A. L. (2010) · Nature Reviews Drug Discovery · doi:10.1038/nrd3078 · Cited by 3,566 · see citing works

Sequence Variations in <i>PCSK9,</i> Low LDL, and Protection against Coronary Heart Disease

Cohen, J. C., Boerwinkle, E., Mosley, T. H., & Hobbs, H. H. (2006) · New England Journal of Medicine · doi:10.1056/nejmoa054013 · Cited by 3,181 · see citing works

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

Abifadel, M., Varret, M., Rabès, J.-P., Allard, D., Ouguerram, K., Devillers, M., Cruaud, C., Benjannet, S., Wickham, L., Erlich, D., et al. (2003) · Nature Genetics · doi:10.1038/ng1161 · Cited by 2,985 · see citing works

Genome-wide association studies for complex traits: consensus, uncertainty and challenges

McCarthy, M. I., Abecasis, G. R., Cardon, L. R., Goldstein, D. B., Little, J., Ioannidis, J. P. A., & Hirschhorn, J. N. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2344 · Cited by 2,891 · see citing works

Genome-wide association studies for common diseases and complex traits

Hirschhorn, J. N., & Daly, M. J. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1521 · Cited by 2,852 · see citing works

Five Years of GWAS Discovery

Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425 · see citing works

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J. I., Scott, L. J., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) · Nature · doi:10.1038/nature01629 · Cited by 2,217 · see citing works

A CFTR Potentiator in Patients with Cystic Fibrosis and the <i>G551D</i> Mutation

Ramsey, B. W., Davies, J., McElvaney, N. G., Tullis, E., Bell, S. C., Dřevínek, P., Griese, M., McKone, E. F., Wainwright, C. E., Konstan, M. W., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1105185 · Cited by 2,195 · see citing works

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Dietz, H. C., Cutting, C. R., Pyeritz, R. E., Maslen, C. L., Sakai, L. Y., Corson, G. M., Puffenberger, E. G., Hamosh, A., Nanthakumar, E. J., Curristin, S. M., et al. (1991) · Nature · doi:10.1038/352337a0 · Cited by 2,065 · see citing works

Diagnosing the decline in pharmaceutical R&amp;D efficiency

Scannell, J. W., Blanckley, A., Boldon, H., & Warrington, B. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3681 · Cited by 1,981 · see citing works

The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes

Altshuler, D., Hirschhorn, J. N., Klannemark, M., Lindgren, C. M., Vohl, M.-C., Nemesh, J., Lane, C. R., Schaffner, S. F., Bolk, S., Brewer, C., et al. (2000) · Nature Genetics · doi:10.1038/79216 · Cited by 1,766 · see citing works

A mutation in APP protects against Alzheimer’s disease and age-related cognitive decline

Jonsson, T., Atwal, J. K., Steinberg, S., Snaedal, J., Jonsson, P. V., Bjornsson, S., Stefansson, H., Sulem, P., Gudbjartsson, D., Maloney, J., et al. (2012) · Nature · doi:10.1038/nature11283 · Cited by 1,738 · see citing works

An SCN9A channelopathy causes congenital inability to experience pain

Cox, J. J., Reimann, F. M., Nicholas, A. K., Thornton, G., Roberts, E., Springell, K., Karbani, G., Jafri, H., Mannan, J., Raashid, Y., et al. (2006) · Nature · doi:10.1038/nature05413 · Cited by 1,605 · see citing works

Lamin A Truncation in Hutchinson-Gilford Progeria

Sandre‐Giovannoli, A. D., Bernard, R., Cau, P., Navarro, C. L., Amiel, J., Boccaccio, I., Lyonnet, S., Stewart, C. L., Münnich, A., Merrer, M. F. L., et al. (2003) · Science · doi:10.1126/science.1084125 · Cited by 1,472 · see citing works

Genetic Mapping in Human Disease

Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science · doi:10.1126/science.1156409 · Cited by 1,452 · see citing works

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans

Kathiresan, S., Melander, O., Guiducci, C., Surti, A., Burtt, N. P., Rieder, M. J., Cooper, G. M., Roos, C., Voight, B. F., Havulinna, A. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.75 · Cited by 1,386 · see citing works

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

Cohen, J., Pertsemlidis, A., Kotowski, I. K., Graham, R., Garcia, C. K., & Hobbs, H. H. (2005) · Nature Genetics · doi:10.1038/ng1509 · Cited by 1,381 · see citing works

Common variants at 30 loci contribute to polygenic dyslipidemia

Kathiresan, S., Willer, C. J., Peloso, G. M., Demissie, S., Musunuru, K., Schadt, E. E., Kaplan, L., Bennett, D., Li, Y., Tanaka, T., et al. (2009) · Nature Genetics · doi:10.1038/ng.291 · Cited by 1,364 · see citing works

Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome

Neptune, E., Frischmeyer, P., Arking, D., Myers, L., Bunton, T., Gayraud, B., Ramirez, F., Sakai, L., & Dietz, H. (2003) · Nature Genetics · doi:10.1038/ng1116 · Cited by 1,301 · see citing works

Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS

Nicolae, D. L., Gamazon, E., Zhang, W., Duan, S., Dolan, M. E., & Cox, N. J. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000888 · Cited by 1,292 · see citing works

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science · doi:10.1126/science.1215040 · Cited by 1,272 · see citing works

Steroid 5α-Reductase Deficiency in Man: An Inherited Form of Male Pseudohermaphroditism

Imperato-McGinley, J., Guerrero, L., Gautier, T., & Peterson, R. E. (1974) · Science · doi:10.1126/science.186.4170.1213 · Cited by 1,258 · see citing works

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

Estrada, K., Styrkársdóttir, U., Εvangelou, Ε., Hsu, Y., Duncan, E. L., Ntzani, E., Oei, L., Albagha, O., Amin, N., Kemp, J. P., et al. (2012) · Nature Genetics · doi:10.1038/ng.2249 · Cited by 1,177 · see citing works

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis

(2012) · The Lancet · doi:10.1016/s0140-6736(12)60110-x · Cited by 1,146 · see citing works

Uncovering the roles of rare variants in common disease through whole-genome sequencing

Cirulli, E. T., & Goldstein, D. B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2779 · Cited by 1,136 · see citing works

Placebo-Controlled Trial of Tofacitinib Monotherapy in Rheumatoid Arthritis

Fleischmann, R., Kremer, J. M., Cush, J. J., Schulze‐Koops, H., Connell, C. A., Bradley, J. D., Gruben, D. C., Wallenstein, G. V., Zwillich, S. H., & Kanik, K. S. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1109071 · Cited by 1,028 · see citing works

Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity

Collaborative Association Study of Psoriasis (CASP), Tsoi, L. C., Genetic Analysis of Psoriasis Consortium, Psoriasis Association Genetics Extension, Wellcome Trust Case Control Consortium 2, Spain, S. L., Knight, J., Ellinghaus, E., Stuart, P. E., Capon, F., et al. (2012) · Nature Genetics · doi:10.1038/ng.2467 · Cited by 1,024 · see citing works

Rare Variants of <i>IFIH1</i> , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

Nejentsev, S., Walker, N., Riches, D., Egholm, M., & Todd, J. A. (2009) · Science · doi:10.1126/science.1167728 · Cited by 958 · see citing works

Tofacitinib or Adalimumab versus Placebo in Rheumatoid Arthritis

van Vollenhoven, R., Fleischmann, R., Cohen, S. B., Lee, E. B., Meijide, J. A. G., Wagner, S., Forejtová, Š., Zwillich, S. H., Gruben, D. C., Koncz, T., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1112072 · Cited by 947 · see citing works

Lovastatin and beyond: the history of the HMG-CoA reductase inhibitors

Tobert, J. A. (2003) · Nature Reviews Drug Discovery · doi:10.1038/nrd1112 · Cited by 878 · see citing works

Angiotensin II Blockade and Aortic-Root Dilation in Marfan's Syndrome

Brooke, B. S., Habashi, J. P., Judge, D. P., Patel, N. D., Loeys, B., & Dietz, H. C. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0706585 · Cited by 840 · see citing works

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia

Yang, Y., Wang, Y., Li, S., Xu, Z., Li, H., Ma, L., Fan, J., Bu, D., Liu, B., Fan, Z., et al. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.012153 · Cited by 800 · see citing works

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC), Rivas, M. A., United Kingdom Inflammatory Bowel Disease Genetics Consortium, International Inflammatory Bowel Disease Genetics Consortium, Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C. K., Boucher, G., et al. (2011) · Nature Genetics · doi:10.1038/ng.952 · Cited by 771 · see citing works

SCN9A Mutations in Paroxysmal Extreme Pain Disorder: Allelic Variants Underlie Distinct Channel Defects and Phenotypes

Fertleman, C. R., Baker, M. D., Parker, K. A., Moffatt, S. L., Elmslie, F., Abrahamsen, B., Östman, J., Klugbauer, N., Wood, J. N., Gardiner, R. M., et al. (2006) · Neuron · doi:10.1016/j.neuron.2006.10.006 · Cited by 759 · see citing works

Genome-wide association study shows <i>BCL11A</i> associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia

Uda, M., Galanello, R., Sanna, S., Lettre, G., Sankaran, V. G., Chen, W., Usala, G., Busonero, F., Maschio, A., Albai, G., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711566105 · Cited by 672 · see citing works

Effect of a Monoclonal Antibody to PCSK9 on LDL Cholesterol

Stein, E. A., Mellis, S., Yancopoulos, G. D., Stahl, N., Logan, D., Smith, W. B., Lisbon, E., Gutierrez, M., Webb, C., Wu, R., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1105803 · Cited by 664 · see citing works

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis

Syndicate, B. I. R. A. G. A. G. S., Eyre, S., Wellcome Trust Case Control Consortium, Bowes, J., Diogo, D., Lee, A., Barton, A., Martin, P., Zhernakova, A., Stahl, E., et al. (2012) · Nature Genetics · doi:10.1038/ng.2462 · Cited by 653 · see citing works

Deletion of steroid 5α-reductase 2 gene in male pseudohermaphroditism

Andersson, S., Berman, D. M., Jenkins, E. P., & Russell, D. W. (1991) · Nature · doi:10.1038/354159a0 · Cited by 643 · see citing works

Effect of Eculizumab on Hemolysis and Transfusion Requirements in Patients with Paroxysmal Nocturnal Hemoglobinuria

Hillmen, P., Hall, C., Marsh, J. C. W., Elebute, M. O., Bombara, M. P., Petro, B. E., Cullen, M. J., Richards, S. J., Rollins, S. A., Mojcik, C. F., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa031688 · Cited by 632 · see citing works

Phase II failures: 2008–2010

Arrowsmith, J. (2011) · Nature Reviews Drug Discovery · doi:10.1038/nrd3439 · Cited by 622 · see citing works

Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype

Maxwell, K. N., & Breslow, J. L. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402133101 · Cited by 613 · see citing works

Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration

Maller, J., George, S., Purcell, S., Fagerness, J., Altshuler, D., Daly, M. J., & Seddon, J. M. (2006) · Nature Genetics · doi:10.1038/ng1873 · Cited by 599 · see citing works

Chromatin marks identify critical cell types for fine mapping complex trait variants

Trynka, G., Sandor, C., Han, B., Xu, H., Stranger, B. E., Liu, X. S., & Raychaudhuri, S. (2013) · Nature Genetics · doi:10.1038/ng.2504 · Cited by 580 · see citing works

Effect of a monoclonal antibody to PCSK9, REGN727/SAR236553, to reduce low-density lipoprotein cholesterol in patients with heterozygous familial hypercholesterolaemia on stable statin dose with or without ezetimibe therapy: a phase 2 randomised controlled trial

Stein, E. A., Gipe, D., Bergeron, J., Gaudet, D., Weiss, R., Dufour, R., Wu, R., & Pordy, R. C. (2012) · The Lancet · doi:10.1016/s0140-6736(12)60771-5 · Cited by 575 · see citing works

Progress and promise of genome-wide association studies for human complex trait genetics

Stranger, B. E., Stahl, E. A., & Raj, T. (2011) · Genetics · doi:10.1534/genetics.110.120907 · Cited by 567 · see citing works

Etiology of Type 1 Diabetes

Todd, J. A. (2010) · Immunity · doi:10.1016/j.immuni.2010.04.001 · Cited by 560 · see citing works

DNA polymorphisms at the BCL11A , HBS1L-MYB , and β- globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease

Lettre, G., Sankaran, V. G., Bezerra, M., Araujo, A. S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F. F., Hirschhorn, J. N., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804799105 · Cited by 560 · see citing works

Replication of Putative Candidate-Gene Associations with Rheumatoid Arthritis in >4,000 Samples from North America and Sweden: Association of Susceptibility with PTPN22, CTLA4, and PADI4

Plenge, R. M., Padyukov, L., Remmers, E. F., Purcell, S., Lee, A. T., Karlson, E. W., Wolfe, F., Kastner, D. L., Alfredsson, L. S., Altshuler, D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/498651 · Cited by 558 · see citing works

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

Rader, D. J., Cohen, J. C., & Hobbs, H. H. (2003) · Journal of Clinical Investigation · doi:10.1172/jci18925 · Cited by 555 · see citing works

Common variants at CD40 and other loci confer risk of rheumatoid arthritis

Raychaudhuri, S., Remmers, E. F., Lee, A. T., Hackett, R., Guiducci, C., Burtt, N. P., Gianniny, L., Korman, B. D., Padyukov, L., Kurreeman, F. A. S., et al. (2008) · Nature Genetics · doi:10.1038/ng.233 · Cited by 534 · see citing works

A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15

Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., et al. (2007) · Nature Genetics · doi:10.1038/ng2108 · Cited by 529 · see citing works

A Spectrum of PCSK9 Alleles Contributes to Plasma Levels of Low-Density Lipoprotein Cholesterol

Kotowski, I. K., Pertsemlidis, A., Luke, A., Cooper, R. S., Vega, G. L., Cohen, J. C., & Hobbs, H. H. (2006) · The American Journal of Human Genetics · doi:10.1086/500615 · Cited by 517 · see citing works

Post-transcriptional Regulation of Low Density Lipoprotein Receptor Protein by Proprotein Convertase Subtilisin/Kexin Type 9a in Mouse Liver

Park, S. W., Moon, Y.-A., & Horton, J. D. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m410077200 · Cited by 500 · see citing works

Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles

Fairfax, B. P., Makino, S., Radhakrishnan, J., Plant, K., Leslie, S., Dilthey, A., Ellis, P., Langford, C., Vannberg, F. O., & Knight, J. C. (2012) · Nature Genetics · doi:10.1038/ng.2205 · Cited by 486 · see citing works

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

Rader, D. J., Cohen, J. C., & Hobbs, H. H. (2003) · Journal of Clinical Investigation · doi:10.1172/jci200318925 · Cited by 468 · see citing works

Torcetrapib and carotid intima-media thickness in mixed dyslipidaemia (RADIANCE 2 study): a randomised, double-blind trial

Bots, M. L., Visseren, F. L. J., Evans, G. W., Riley, W. A., Revkin, J. H., Tegeler, C. H., Shear, C. L., Duggan, W. T., Vicari, R. M., Grobbee, D. E., et al. (2007) · The Lancet · doi:10.1016/s0140-6736(07)61088-5 · Cited by 453 · see citing works

Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology

Rossin, E. J., Lage, K., Raychaudhuri, S., Xavier, R. J., Tatar, D., Benita, Y., Constortium, I. I. B. D. G., Cotsapas, C., & Daly, M. J. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001273 · Cited by 438 · see citing works

Variation in complement factor 3 is associated with risk of age-related macular degeneration

Maller, J. B., Fagerness, J. A., Reynolds, R. C., Neale, B. M., Daly, M. J., & Seddon, J. M. (2007) · Nature Genetics · doi:10.1038/ng2131 · Cited by 437 · see citing works

Identifying Relationships among Genomic Disease Regions: Predicting Genes at Pathogenic SNP Associations and Rare Deletions

Raychaudhuri, S., Plenge, R. M., Rossin, E. J., Ng, A., Purcell, S., Sklar, P. B., Scolnick, E. M., Xavier, R. J., Altshuler, D., & Daly, M. J. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000534 · Cited by 422 · see citing works

Phenotypic vs. Target-Based Drug Discovery for First-in-Class Medicines

Swinney, D. C. (2013) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2012.236 · Cited by 417 · see citing works

Mendelian randomization: can genetic epidemiology help redress the failures of observational epidemiology?

Ebrahim, S., & Davey Smith, G. (2008) · Human Genetics · doi:10.1007/s00439-007-0448-6 · Cited by 410 · see citing works

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

Diabetes Genetics Replication and Meta-analysis Consortium, Stahl, E. A., Myocardial Infarction Genetics Consortium, Wegmann, D., Trynka, G., Gutierrez-Achury, J., Do, R., Voight, B. F., Kraft, P., Chen, R., et al. (2012) · Nature Genetics · doi:10.1038/ng.2232 · Cited by 388 · see citing works

Use of genome-wide association studies for drug repositioning

Sanséau, P., Agarwal, P., Barnes, M. R., Pastinen, T., Richards, J. B., Cardon, L. R., & Mooser, V. (2012) · Nature Biotechnology · doi:10.1038/nbt.2151 · Cited by 387 · see citing works

Mutations in sodium-channel gene SCN9A cause a spectrum of human genetic pain disorders

Drenth, J. P. H., & Waxman, S. G. (2007) · Journal of Clinical Investigation · doi:10.1172/jci33297 · Cited by 373 · see citing works

De Novo and Inherited Deletions of the 5q13 Region in Spinal Muscular Atrophies

Melki, J., Lefebvre, S., Bürglen, L., et al. (1994) · Science · doi:10.1126/science.7910982 · Cited by 323 · see citing works

A rare penetrant mutation in CFH confers high risk of age-related macular degeneration

Raychaudhuri, S., Iartchouk, O., Chin, K., Tan, P. L., Tai, A. K., Ripke, S., Gowrisankar, S., Vemuri, S., Montgomery, K., Yu, Y., et al. (2011) · Nature Genetics · doi:10.1038/ng.976 · Cited by 323 · see citing works

ProTx-II, a Selective Inhibitor of NaV1.7 Sodium Channels, Blocks Action Potential Propagation in Nociceptors

Schmalhofer, W. A., Calhoun, J. D., Burrows, R., Bailey, T., Köhler, M. G., Weinglass, A. B., Kaczorowski, G. J., García, M. L., Koltzenburg, M., & Priest, B. T. (2008) · Molecular Pharmacology · doi:10.1124/mol.108.047670 · Cited by 301 · see citing works

A network view of disease and compound screening

Schadt, E. E., Friend, S. H., & Shaywitz, D. A. (2009) · Nature Reviews Drug Discovery · doi:10.1038/nrd2826 · Cited by 286 · see citing works

Expression of the Familial Hypercholesterolemia Gene in Heterozygotes: Mechanism for a Dominant Disorder in Man

Brown, M. S., & Goldstein, J. L. (1974) · Science · doi:10.1126/science.185.4145.61 · Cited by 261 · see citing works

Laminopathies and the long strange trip from basic cell biology to therapy

Worman, H. J., Fong, L. G., Muchir, A., & Young, S. G. (2009) · Journal of Clinical Investigation · doi:10.1172/jci37679 · Cited by 256 · see citing works

Finasteride

Wood, A. J. J., & Rittmaster, R. S. (1994) · New England Journal of Medicine · doi:10.1056/nejm199401133300208 · Cited by 239 · see citing works

What makes a good drug target?

Gashaw, I., Ellinghaus, P., Sommer, A., & Asadullah, K. (2011) · Drug Discovery Today · doi:10.1016/j.drudis.2011.09.007 · Cited by 238 · see citing works

Spinal muscular atrophy: mechanisms and therapeutic strategies

Lorson, C. L., Rindt, H., & Shababi, M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq147 · Cited by 209 · see citing works

Low‐Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

Usifo, E., Leigh, S. E. A., Whittall, R., Lench, N., Taylor, A., Yeats, C., Orengo, C. A., Martin, A. C. R., Celli, J., & Humphries, S. E. (2012) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2012.00724.x · Cited by 201 · see citing works

SCN9A Mutations Define Primary Erythermalgia as a Neuropathic Disorder of Voltage Gated Sodium Channels

Drenth, J. P. H., Morsche, R. H. M. T., Guillet, G., Taı̈eb, A., Kirby, R. L., & Jansen, J. B. �. �. (2005) · Journal of Investigative Dermatology · doi:10.1111/j.0022-202x.2005.23737.x · Cited by 176 · see citing works

Lighting the fires within: the cell biology of autoinflammatory diseases

Park, H., Bourla, A. B., Kastner, D. L., Colbert, R. A., & Siegel, R. M. (2012) · Nature reviews. Immunology · doi:10.1038/nri3261 · Cited by 174 · see citing works

NaV1.7 Gain-of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated with Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders

Estación, M., Dib‐Hajj, S. D., Benke, P. J., Morsche, R. H. M. T., Eastman, E. M., Macala, L. J., Drenth, J. P. H., & Waxman, S. G. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.3443-08.2008 · Cited by 166 · see citing works

Integrating Autoimmune Risk Loci with Gene-Expression Data Identifies Specific Pathogenic Immune Cell Subsets

Hu, X., Kim, H., Stahl, E. A., Plenge, R. M., Daly, M. J., & Raychaudhuri, S. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.09.002 · Cited by 159 · see citing works

Steroid 5alpha-reductase deficiency in man. An inherited form of male pseudohermaphroditism.

Imperato‐McGinley, J., Guerrero, L., Gautier, T., Jl, G., & Peterson, R. E. (1975) · PubMed · Cited by 135 · see citing works

A Phase 1 Trial of Riluzole in Spinal Muscular Atrophy

Russman, B. S., Iannaccone, S. T., & Samaha, F. J. (2003) · Archives of Neurology · doi:10.1001/archneur.60.11.1601 · Cited by 133 · see citing works

Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13

Burkhardt, R., Kenny, E. E., Lowe, J. K., Birkeland, A. C., Josowitz, R., Noel, M., Salit, J., Maller, J., Pe’er, I., Daly, M. J., et al. (2008) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.108.172288 · Cited by 130 · see citing works

Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency

Notarangelo, L. D., Mella, P., Jones, A., Basile, G. D. S., Savoldi, G., Cranston, T., Vihinen, M., & Schumacher, R. F. (2001) · Human Mutation · doi:10.1002/humu.1188 · Cited by 117 · see citing works

Assessing the translatability of drug projects: what needs to be scored to predict success?

Wehling, M. (2009) · Nature Reviews Drug Discovery · doi:10.1038/nrd2898 · Cited by 116 · see citing works

An overview of international literature from cystic fibrosis registries

Salvatore, D., Buzzetti, R., Baldo, E., Forneris, M. P., Lucidi, V., Manunza, D., Marinelli, I., Messore, B., Neri, A. S., Raia, V., et al. (2009) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2009.11.002 · Cited by 102 · see citing works

New Therapeutic Approaches to Mendelian Disorders

Dietz, H. C. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0907180 · Cited by 98 · see citing works

Competitiveness in follow-on drug R&D: a race or imitation?

DiMasi, J. A., & Faden, L. B. (2010) · Nature Reviews Drug Discovery · doi:10.1038/nrd3296 · Cited by 93 · see citing works

Commentary: Mendelian randomization, 18 years on

Katan, M. (2004) · International Journal of Epidemiology · doi:10.1093/ije/dyh023 · Cited by 85 · see citing works

Inhibiting Alternative Pathway Complement Activation by Targeting the Factor D Exosite

Katschke, K. J., Wu, P., Ganesan, R., Kelley, R. F., Mathieu, M. A., Hass, P. E., Murray, J. M., Kirchhofer, D., Wiesmann, C., & Campagne, M. V. L. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.345082 · Cited by 78 · see citing works

Selective silencing of NaV1.7 decreases excitability and conduction in vagal sensory neurons

Muroi, Y., Ru, F., Kollárik, M., Canning, B. J., Hughes, S. A., Walsh, S. L., Sigg, M., Carr, M., & Undem, B. J. (2011) · The Journal of Physiology · doi:10.1113/jphysiol.2011.215384 · Cited by 78 · see citing works

CLINICAL IMPLICATIONS OF CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR MUTATIONS

Mickle, J. E., & Cutting, G. R. (1998) · Clinics in Chest Medicine · doi:10.1016/s0272-5231(05)70092-7 · Cited by 74 · see citing works

Amyloid precursor protein (APP) A673T mutation in the elderly Finnish population

Kero, M., Paetau, A., Polvikoski, T., Tanskanen, M., Sulkava, R., Jansson, L., Myllykangas, L., & Tienari, P. J. (2013) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2012.09.017 · Cited by 72 · see citing works

An overview of international literature from cystic fibrosis registries. Part 3. Disease incidence, genotype/phenotype correlation, microbiology, pregnancy, clinical complications, lung transplantation, and miscellanea

Salvatore, D., Buzzetti, R., Baldo, E., Forneris, M. P., Lucidi, V., Manunza, D., Marinelli, I., Messore, B., Neri, A. S., Raia, V., et al. (2011) · Journal of Cystic Fibrosis · doi:10.1016/j.jcf.2010.12.005 · Cited by 66 · see citing works

Drug treatment for spinal muscular atrophy type I

Wadman, R. I., Bosboom, W. M., van der Pol, W. L., van den Berg, L. H., Wokke, J. H. J., Iannaccone, S. T., & Vrancken, A. F. J. E. (2012) · Cochrane Database of Systematic Reviews · doi:10.1002/14651858.cd006281.pub4 · Cited by 60 · see citing works

Therapeutic targeting of the complement system in age‐related macular degeneration: a review

Troutbeck, R., Al‐Qureshi, S., & Guymer, R. H. (2012) · Clinical and Experimental Ophthalmology · doi:10.1111/j.1442-9071.2011.02581.x · Cited by 57 · see citing works

The discovery and early use of cortisone

Glyn, J. H. (1998) · Journal of the Royal Society of Medicine · doi:10.1177/014107689809101004 · Cited by 57 · see citing works

Human Genetics in Rheumatoid Arthritis Guides a High-Throughput Drug Screen of the CD40 Signaling Pathway

Li, G., Diogo, D., Wu, D., Spoonamore, J., Dančík, V., Franke, L., Kurreeman, F. A. S., Rossin, E. J., Duclos, G. E., Hartland, C. L., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003487 · Cited by 56 · see citing works

NaV1.7 Gain-of-function Mutations As A Continuum: A1632E Displays Physiological Changes Associated With Erythromelalgia And Paroxysmal Extreme Pain Disorder Mutations And Produces Symptoms Of Both Disorders

Estación, M., Dib‐Hajj, S. D., Benke, P. J., Morsche, R. H. M. T., Eastman, E. M., Macala, L. J., Drenth, J. P. H., & Waxman, S. G. (2009) · Biophysical Journal · doi:10.1016/j.bpj.2008.12.960 · Cited by 53 · see citing works

Therapeutic response to lovastatin (mevinolin) in nonfamilial hypercholesterolemia. A multicenter study. The Lovastatin Study Group II

(1986) · JAMA · doi:10.1001/jama.256.20.2829 · Cited by 29 · see citing works

Cholesteryl ester transfer protein inhibition to reduce cardiovascular risk: where are we now?

Barter, P. J., & Rye, K. (2011) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2011.07.004 · Cited by 27 · see citing works

Riluzole pharmacokinetics in young patients with spinal muscular atrophy

Abbara, C., Estournet, B., Lacomblez, L., Lelièvre, B., Ouslimani, A., Lehmann, B., Viollet, L., Barois, A., & Diquet, B. (2010) · British Journal of Clinical Pharmacology · doi:10.1111/j.1365-2125.2010.03843.x · Cited by 25 · see citing works

Cholesterol-lowering blockbuster candidates speed into Phase III trials

Mullard, A. (2012) · Nature Reviews Drug Discovery · doi:10.1038/nrd3879 · Cited by 25 · see citing works

Will Cholesteryl Ester Transfer Protein Inhibition Succeed Primarily by Lowering Low-Density Lipoprotein Cholesterol?

Kathiresan, S. (2012) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2012.08.967 · Cited by 21 · see citing works

Chemical Genetics and Orphan Genetic Diseases

Lunn, M. R., & Stockwell, B. R. (2005) · Chemistry & Biology · doi:10.1016/j.chembiol.2005.09.005 · Cited by 17 · see citing works

The UK Biobank resource with deep phenotyping and genomic data

Bycroft, C., Freeman, C., Petkova, D., Band, G., Elliott, L. T., Sharp, K., Motyer, A., Vukcevic, D., Delaneau, O., O’Connell, J., et al. (2018) · Nature · doi:10.1038/s41586-018-0579-z · Cited by 8,876 · see citing works

Detection of widespread horizontal pleiotropy in causal relationships inferred from Mendelian randomization between complex traits and diseases

Verbanck, M., Chen, C.-Y., Neale, B., & Do, R. (2018) · Nature Genetics · doi:10.1038/s41588-018-0099-7 · Cited by 8,591 · see citing works

The GTEx Consortium atlas of genetic regulatory effects across human tissues

The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science · doi:10.1126/science.aaz1776 · Cited by 5,547 · see citing works

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1120 · Cited by 4,000 · see citing works

Clinical use of current polygenic risk scores may exacerbate health disparities

Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019) · Nature Genetics · doi:10.1038/s41588-019-0379-x · Cited by 2,831 · see citing works

Sensitivity Analyses for Robust Causal Inference from Mendelian Randomization Analyses with Multiple Genetic Variants

Burgess, S., Bowden, J., Fall, T., Ingelsson, E., & Thompson, S. G. (2017) · Epidemiology · doi:10.1097/ede.0000000000000559 · Cited by 2,017 · see citing works

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Mahajan, A., Taliun, D., Thurner, M., Robertson, N. R., Torres, J. M., Rayner, N. W., Payne, A. J., Steinthorsdottir, V., Scott, R. A., Grarup, N., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0241-6 · Cited by 1,744 · see citing works

Genome-wide association studies

Uffelmann, E., Huang, Q. Q., Munung, N. S., de Vries, J., Okada, Y., Martin, A. R., Martin, H. C., Lappalainen, T., & Posthuma, D. (2021) · Nature Reviews Methods Primers · doi:10.1038/s43586-021-00056-9 · Cited by 1,849 · see citing works

The support of human genetic evidence for approved drug indications

Nelson, M. R., Tipney, H., Painter, J. L., Shen, J., Nicoletti, P., Shen, Y., Floratos, A., Sham, P. C., Li, M. J., Wang, J., et al. (2015) · Nature Genetics · doi:10.1038/ng.3314 · Cited by 1,666 · see citing works

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Vilhjálmsson, B. J., Yang, J., Finucane, H. K., Gusev, A., Lindström, S., Ripke, S., Genovese, G., Loh, P.-R., Bhatia, G., Do, R., et al. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.09.001 · Cited by 1,303 · see citing works

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease

Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., et al. (2016) · Cell · doi:10.1016/j.cell.2016.10.042 · Cited by 1,224 · see citing works

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Orrù, V., Steri, M., Sidore, C., Marongiu, M., Serra, V., Olla, S., Sole, G., Lai, S., Dei, M., Mulas, A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0684-4 · Cited by 1,246 · see citing works

Phenome-wide Mendelian randomization mapping the influence of the plasma proteome on complex diseases.

Zheng, J., Haberland, V., Baird, D., Walker, V., Haycock, P., Hurle, M., Gutteridge, A., Erola, P., Liu, Y., Luo, S., et al. (2019) · doi:10.1101/627398 · Cited by 812 · see citing works

A brief history of human disease genetics

Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697 · see citing works

Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

King, E. A., Davis, J. W., & Degner, J. F. (2019) · PLOS Genetics · doi:10.1371/journal.pgen.1008489 · Cited by 649 · see citing works

Genetics of coronary artery disease: discovery, biology and clinical translation

Khera, A. V., & Kathiresan, S. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2016.160 · Cited by 659 · see citing works

Animal models of human disease: challenges in enabling translation

McGonigle, P., & Ruggeri, B. (2014) · Biochemical Pharmacology · doi:10.1016/j.bcp.2013.08.006 · Cited by 610 · see citing works

Precision medicine for cancer with next-generation functional diagnostics

Friedman, A. A., Letai, A., Fisher, D. E., & Flaherty, K. T. (2015) · Nature Reviews Cancer · doi:10.1038/nrc4015 · Cited by 570 · see citing works

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Go-T2D Consortium, Flannick, J., T2D-GENES Consortium, Thorleifsson, G., Beer, N. L., Jacobs, S. B. R., Grarup, N., Burtt, N. P., Mahajan, A., Fuchsberger, C., et al. (2014) · Nature Genetics · doi:10.1038/ng.2915 · Cited by 492 · see citing works

Drug development in the era of precision medicine

Dugger, S. A., Platt, A., & Goldstein, D. B. (2018) · Nature Reviews Drug Discovery · doi:10.1038/nrd.2017.226 · Cited by 493 · see citing works

Genetics meets proteomics: perspectives for large population-based studies

Suhre, K., McCarthy, M. I., & Schwenk, J. M. (2021) · Nature Reviews Genetics · doi:10.1038/s41576-020-0268-2 · Cited by 478 · see citing works

Genetic architecture: the shape of the genetic contribution to human traits and disease

Timpson, N. J., Greenwood, C. M. T., Soranzo, N., Lawson, D. J., & Richards, J. B. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.101 · Cited by 434 · see citing works

Association Between Low-Density Lipoprotein Cholesterol–Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis

Lotta, L. A., Sharp, S. J., Burgess, S., Perry, J. R. B., Stewart, I. D., Willems, S. M., Luan, J., Ardanaz, E., Arriola, L., Balkau, B., et al. (2016) · JAMA · doi:10.1001/jama.2016.14568 · Cited by 394 · see citing works

Inactivating Mutations in <i>NPC1L1</i> and Protection from Coronary Heart Disease

The Myocardial Infarction Genetics Consortium Investigators (2014) · New England Journal of Medicine · doi:10.1056/nejmoa1405386 · Cited by 419 · see citing works

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Szustakowski, J. D., Balasubramanian, S., Kvikstad, E., Khalid, S., Bronson, P. G., Sasson, A., Wong, E., Liu, D., Wade Davis, J., Haefliger, C., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00885-0 · Cited by 401 · see citing works

Large-scale genomics unveils the genetic architecture of psychiatric disorders

Gratten, J., Wray, N. R., Keller, M. C., & Visscher, P. M. (2014) · Nature Neuroscience · doi:10.1038/nn.3708 · Cited by 363 · see citing works

Selecting instruments for Mendelian randomization in the wake of genome-wide association studies.

Swerdlow, D. I., Kuchenbaecker, K. B., Shah, S., Sofat, R., Holmes, M. V., White, J., Mindell, J. S., Kivimaki, M., Brunner, E. J., Whittaker, J. C., et al. (2016) · International Journal of Epidemiology · doi:10.1093/ije/dyw088 · Cited by 387 · see citing works

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature · doi:10.1038/s41586-019-1231-2 · Cited by 304 · see citing works

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Moss, D. J. H., Pardiñas, A. F., Langbehn, D., Lo, K., Leavitt, B. R., Roos, R., Durr, A., Mead, S., Coleman, A., Santos, R. D., et al. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30161-8 · Cited by 312 · see citing works

Resolving <i>TYK2</i> locus genotype-to-phenotype differences in autoimmunity

Dendrou, C. A., Cortes, A., Shipman, L., Evans, H. G., Attfield, K. E., Jostins, L., Barber, T., Kaur, G., Kuttikkatte, S. B., Leach, O. A., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aag1974 · Cited by 264 · see citing works

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 · doi:10.1016/j.jacc.2016.10.033 · Cited by 244 · see citing works

The road to precision psychiatry: translating genetics into disease mechanisms

Gandal, M. J., Leppa, V., Won, H., Parikshak, N. N., & Geschwind, D. H. (2016) · Nature Neuroscience · doi:10.1038/nn.4409 · Cited by 223 · see citing works

Rare variant associations with plasma protein levels in the UK Biobank

Dhindsa, R. S., Burren, O. S., Sun, B. B., Prins, B. P., Matelska, D., Wheeler, E., Mitchell, J., Oerton, E., Hristova, V. A., Smith, K. R., et al. (2023) · Nature · doi:10.1038/s41586-023-06547-x · Cited by 193 · see citing works

Lipid-Lowering Agents: Targets Beyond PCSK9

Hegele, R. A., & Tsimikas, S. (2019) · Circulation Research · doi:10.1161/circresaha.118.313171 · Cited by 171 · see citing works

Progress and promise in understanding the genetic basis of common diseases

Price, A. L., Spencer, C. C. A., & Donnelly, P. (2015) · Proceedings of the Royal Society B: Biological Sciences · doi:10.1098/rspb.2015.1684 · Cited by 147 · see citing works

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Rusu, V., Hoch, E., Mercader, J. M., Tenen, D. E., Gymrek, M., Hartigan, C. R., DeRan, M., von Grotthuss, M., Fontanillas, P., Spooner, A., et al. (2017) · Cell · doi:10.1016/j.cell.2017.06.011 · Cited by 152 · see citing works

The significant cost of systematic reviews and meta-analyses: A call for greater involvement of machine learning to assess the promise of clinical trials

Michelson, M., & Reuter, K. (2019) · Contemporary Clinical Trials Communications · doi:10.1016/j.conctc.2019.100443 · Cited by 152 · see citing works

Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics

Bovijn, J., Krebs, K., Chen, C.-Y., Boxall, R., Censin, J. C., Ferreira, T., Pulit, S. L., Glastonbury, C. A., Laber, S., Millwood, I. Y., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aay6570 · Cited by 119 · see citing works

Genetics of Anxiety Disorders

Meier, S. M., & Deckert, J. (2019) · Current Psychiatry Reports · doi:10.1007/s11920-019-1002-7 · Cited by 182 · see citing works

Current clinical use of polygenic scores will risk exacerbating health disparities

Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2018) · doi:10.1101/441261 · Cited by 2,813 · see citing works

Recommendations toward a human pathway-based approach to disease research

Marshall, L. J., Austin, C. P., Casey, W., Fitzpatrick, S. C., & Willett, C. (2018) · Drug Discovery Today · doi:10.1016/j.drudis.2018.05.038 · Cited by 28 · see citing works

Human genetic insights into lipoproteins and risk of cardiometabolic disease

Stitziel, N. O. (2017) · Current Opinion in Lipidology · doi:10.1097/mol.0000000000000389 · Cited by 14 · see citing works

Human iPSC Models in Drug Discovery: Opportunities and Challenges

Silva, M. C., Cross, A., Brandon, N. J., & Haggarty, S. J. (2017) · Comprehensive Medicinal Chemistry III · doi:10.1016/b978-0-12-409547-2.12284-x · Cited by 6 · see citing works

GeneBench-Pro: Evaluating Multistage Statistical Reasoning in Genomics, Quantitative Biology, and Translational Biomedicine

Li, J., Shringarpure, S., Wong, E., & Ho, A. (2026) · doi:10.64898/2026.06.29.735386

The Significance of Lifelong Learning Against the Spread of Ignorance

Aydın, D., & Kaygın, H. (2023) · European Conference on Education official conference proceedings · doi:10.22492/issn.2188-1162.2023.16

Axiomatizing Rumsfeld Ignorance

Fan, J. (2023) · Journal of Philosophical Logic · doi:10.1007/s10992-023-09725-4 · Cited by 4 · see citing works

Ignorance matters

Royka, A. L., & Jara‐Ettinger, J. (2021) · Behavioral and Brain Sciences · doi:10.1017/s0140525x20001636 · Cited by 16 · see citing works

Kinds of Ignorance

Peels, R. (2023) · Oxford University Press eBooks · doi:10.1093/oso/9780197654514.003.0002

Ignorance: How it drives science

Firestein, S. (2012) · Cited by 200 · see citing works