Daly, Mark J.

Identification of common genetic risk variants for autism spectrum disorder

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Grove, J., BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., et al. (2019) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 2,421

Schizophrenia risk from complex variation of complement component 4

Sekar, A., Bialas, A. R., de Rivera, H., Davis, A., Hammond, T. R., Kamitaki, N., Tooley, K., Presumey, J., Baum, M., Van Doren, V., et al. (2016) · Nature

Schizophrenia research and treatmentComplement system in diseases

Cited by 2,394

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2018) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,323

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,321

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Demontis, D., Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium, 23andMe Research Team, Walters, R. K., Martin, J., Mattheisen, M., Als, T. D., Agerbo, E., Baldursson, G., et al. (2019) · Nature Genetics

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Cited by 2,203

Genetic and epigenetic fine mapping of causal autoimmune disease variants

Farh, K. K.-H., Marson, A., Zhu, J., Kleinewietfeld, M., Housley, W. J., Beik, S., Shoresh, N., Whitton, H., Ryan, R. J. H., Shishkin, A. A., et al. (2015) · Nature

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 1,956

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

Wellcome Trust Case Control Consortium, Zeggini, E., Scott, L. J., Saxena, R., Voight, B. F., Marchini, J. L., Hu, T., de Bakker, P. I., Abecasis, G. R., Almgren, P., et al. (2008) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,864

Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis

Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., Green, T., Kuballa, P., Barmada, M. M., Datta, L. W., et al. (2007) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 1,769

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

Peroxisome Proliferator-Activated ReceptorsGenetic Associations and Epidemiology

Cited by 1,766

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

The MAGIC investigators, Voight, B. F., The GIANT Consortium, Scott, L. J., Steinthorsdottir, V., Morris, A. P., Dina, C., Welch, R. P., Zeggini, E., Huth, C., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,761

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 1,734

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

High-resolution haplotype structure in the human genome

Daly, M. J., Rioux, J. D., Schaffner, S. F., Hudson, T. J., & Lander, E. S. (2001) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 1,717

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,666

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. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,662

Genome-wide association study identifies 30 loci associated with bipolar disorder

eQTLGen Consortium, Stahl, E. A., BIOS Consortium, the Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Breen, G., Forstner, A. J., McQuillin, A., Ripke, S., Trubetskoy, V., Mattheisen, M., et al. (2019) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,519

Genetic Mapping in Human Disease

Altshuler, D., Daly, M. J., & Lander, E. S. (2008) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,452

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., Murtha, M. T., Bal, V. H., Bishop, S. L., Dong, S., et al. (2015) · Neuron

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 1,430

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 1,391

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Lee, P. H., Anttila, V., Won, H., Feng, Y.-C. A., Rosenthal, J., Zhu, Z., Tucker-Drob, E. M., Nivard, M. G., Grotzinger, A. D., Posthuma, D., et al. (2019) · Cell

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 1,381

Replicating genotype–phenotype associations

NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S. J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D. J., Thomas, G., Hirschhorn, J. N., Abecasis, G., Altshuler, D., et al. (2007) · Nature

Genetic Associations and EpidemiologyMeta-analysis and systematic reviews

Cited by 1,352

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

Psychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., Edenberg, H. J., Nurnberger, J. I., Rietschel, M., et al. (2011) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,344

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Wellcome Trust Case Control Consortium, Ferreira, M. A. R., O'Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., Fan, J., Kirov, G., Perlis, R. H., et al. (2008) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,237