Daly, Mark J.

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

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

Nievergelt, C. M., Maihofer, A. X., Klengel, T., Atkinson, E. G., Chen, C.-Y., Choi, K. W., Coleman, J. R. I., Dalvie, S., Duncan, L. E., Gelernter, J., et al. (2019) · Nature Communications

Posttraumatic Stress Disorder ResearchGenetic Associations and Epidemiology

Cited by 635

Searching for missing heritability: Designing rare variant association studies

Zuk, O., Schaffner, S. F., Samocha, K., Do, R., Hechter, E., Kathiresan, S., Daly, M. J., Neale, B. M., Sunyaev, S. R., & Lander, E. S. (2014) · Proceedings of the National Academy of Sciences

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 635

Calibrating a coalescent simulation of human genome sequence variation

Schaffner, S. F., Foo, C., Gabriel, S., Reich, D., Daly, M. J., & Altshuler, D. (2005) · Genome Research

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 616

Fine-mapping inflammatory bowel disease loci to single-variant resolution

International Inflammatory Bowel Disease Genetics Consortium, Huang, H., Fang, M., Jostins, L., Umićević Mirkov, M., Boucher, G., Anderson, C. A., Andersen, V., Cleynen, I., Cortes, A., et al. (2017) · Nature

Genetic Associations and EpidemiologyInflammatory Bowel Disease

Cited by 611

Pervasive Sharing of Genetic Effects in Autoimmune Disease

Cotsapas, C., Voight, B. F., Rossin, E., Lage, K., Neale, B. M., Wallace, C., Abecasis, G. R., Barrett, J. C., Behrens, T., Cho, J., et al. (2011) · PLoS Genetics

Genetic Associations and EpidemiologyMultiple Sclerosis Research Studies

Cited by 606

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

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 599

Disruption of neurexin 1 associated with autism spectrum disorder

Kim, H.-G., Kishikawa, S., Higgins, A. W., Seong, I.-S., Donovan, D. J., Shen, Y., Lally, E., Weiss, L. A., Najm, J., Kutsche, K., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 578

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 577

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

iPSYCH-Broad Autism Group, Weiner, D. J., Psychiatric Genomics Consortium Autism Group, Wigdor, E. M., Ripke, S., Walters, R. K., Kosmicki, J. A., Grove, J., Samocha, K. E., Goldstein, J. I., et al. (2017) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 516

Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits

Segrè, A. V., DIAGRAM Consortium, MAGIC investigators, Groop, L., Mootha, V. K., Daly, M. J., & Altshuler, D. (2010) · PLoS Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 463

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

Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder

Neale, B. M., Medland, S. E., Ripke, S., Asherson, P., Franke, B., Lesch, K.-P., Faraone, S. V., Nguyen, T. T., Schäfer, H., Holmans, P., et al. (2010) · Journal of the American Academy of Child & Adolescent Psychiatry

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Cited by 450

Three functional variants of IFN regulatory factor 5 ( IRF5 ) define risk and protective haplotypes for human lupus

Graham, R. R., Kyogoku, C., Sigurdsson, S., Vlasova, I. A., Davies, L. R. L., Baechler, E. C., Plenge, R. M., Koeuth, T., Ortmann, W. A., Hom, G., et al. (2007) · Proceedings of the National Academy of Sciences

Systemic Lupus Erythematosus ResearchGenetic Associations and Epidemiology

Cited by 450

Whole population, genome-wide mapping of hidden relatedness

Gusev, A., Lowe, J. K., Stoffel, M., Daly, M. J., Altshuler, D., Breslow, J. L., Friedman, J. M., & Pe'er, I. (2009) · Genome Research

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 450

Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene ( LIPC )

Neale, B. M., Fagerness, J., Reynolds, R., Sobrin, L., Parker, M., Raychaudhuri, S., Tan, P. L., Oh, E. C., Merriam, J. E., Souied, E., et al. (2010) · Proceedings of the National Academy of Sciences

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

Cited by 442

Quantifying prion disease penetrance using large population control cohorts

Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine

Prion Diseases and Protein MisfoldingGenomics and Rare Diseases

Cited by 442

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

Bioinformatics and Genomic NetworksGenetic Associations and Epidemiology

Cited by 438

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

Retinal Diseases and TreatmentsComplement system in diseases

Cited by 437

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 427

Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability

Duncan, L. E., Ratanatharathorn, A., Aiello, A. E., Almli, L. M., Amstadter, A. B., Ashley-Koch, A. E., Baker, D. G., Beckham, J. C., Bierut, L. J., Bisson, J., et al. (2018) · Molecular Psychiatry

Posttraumatic Stress Disorder ResearchGenetic Associations and Epidemiology

Cited by 425

Complex host genetics influence the microbiome in inflammatory bowel disease

Knights, D., Silverberg, M. S., Weersma, R. K., Gevers, D., Dijkstra, G., Huang, H., Tyler, A. D., van Sommeren, S., Imhann, F., Stempak, J. M., et al. (2014) · Genome Medicine

Gut microbiota and healthInflammatory Bowel Disease

Cited by 418

Genome-wide meta-analysis identifies new susceptibility loci for migraine

North American Brain Expression Consortium, Anttila, V., UK Brain Expression Consortium, the International Headache Genetics Consortium, Winsvold, B. S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., Kallela, M., et al. (2013) · Nature Genetics

Migraine and Headache StudiesGenetic Associations and Epidemiology

Cited by 410

Abundant contribution of short tandem repeats to gene expression variation in humans

Gymrek, M., Willems, T., Guilmatre, A., Zeng, H., Markus, B., Georgiev, S., Daly, M. J., Price, A. L., Pritchard, J. K., Sharp, A. J., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 410