Daly, Mark J.

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

Hui, K. Y., Fernandez-Hernandez, H., Hu, J., Schaffner, A., Pankratz, N., Hsu, N.-Y., Chuang, L.-S., Carmi, S., Villaverde, N., Li, X., et al. (2018) · Science Translational Medicine

Parkinson's Disease Mechanisms and TreatmentsInflammatory Bowel Disease

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Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense

Lassen, K. G., Kuballa, P., Conway, K. L., Patel, K. K., Becker, C. E., Peloquin, J. M., Villablanca, E. J., Norman, J. M., Liu, T.-C., Heath, R. J., et al. (2014) · Proceedings of the National Academy of Sciences

Autophagy in Disease and TherapyInflammatory Bowel Disease

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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

iPSYCH-SSI-Broad Autism Group, Robinson, E. B., St Pourcain, B., Anttila, V., Kosmicki, J. A., Bulik-Sullivan, B., Grove, J., Maller, J., Samocha, K. E., Sanders, S. J., et al. (2016) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

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Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W. K., Hirschhorn, J. N., Daly, M. J., Patterson, N., et al. (2018) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

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Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W., Hirschhorn, J., Daly, M. J., Patterson, N., et al. (2019) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 359

Variation near complement factor I is associated with risk of advanced AMD

Fagerness, J. A., Maller, J. B., Neale, B. M., Reynolds, R. C., Daly, M. J., & Seddon, J. M. (2009) · European Journal of Human Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

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The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity

Grimm, D. G., Azencott, C., Aicheler, F., Gieraths, U., MacArthur, D. G., Samocha, K. E., Cooper, D. N., Stenson, P. D., Daly, M. J., Smoller, J. W., et al. (2015) · Human Mutation

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Regional missense constraint improves variant deleteriousness prediction

Samocha, K. E., Kosmicki, J. A., Karczewski, K. J., O’Donnell-Luria, A. H., Pierce-Hoffman, E., MacArthur, D. G., Neale, B. M., & Daly, M. J. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

Kosmicki, J. A., Samocha, K. E., Howrigan, D. P., Sanders, S. J., Slowikowski, K., Lek, M., Karczewski, K. J., Cutler, D. J., Devlin, B., Roeder, K., et al. (2017) · Nature Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

Saleheen, D., Natarajan, P., Armean, I. M., Zhao, W., Rasheed, A., Khetarpal, S. A., Won, H.-H., Karczewski, K. J., O’Donnell-Luria, A. H., Samocha, K. E., et al. (2017) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders

Pedersen, C. B., Bybjerg-Grauholm, J., Pedersen, M. G., Grove, J., Agerbo, E., Bækvad-Hansen, M., Poulsen, J. B., Hansen, C. S., McGrath, J. J., Als, T. D., et al. (2018) · Molecular Psychiatry

Genetic Associations and EpidemiologySchizophrenia research and treatment

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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

Retinal Diseases and TreatmentsComplement system in diseases

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Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

An, J.-Y., Lin, K., Zhu, L., Werling, D. M., Dong, S., Brand, H., Wang, H. Z., Zhao, X., Schwartz, G. B., Collins, R. L., et al. (2018) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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RICOPILI: Rapid Imputation for COnsortias PIpeLIne

Lam, M., Awasthi, S., Watson, H. J., Goldstein, J., Panagiotaropoulou, G., Trubetskoy, V., Karlsson, R., Frei, O., Fan, C.-C., De Witte, W., et al. (2020) · Bioinformatics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

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Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes

He, X., Sanders, S. J., Liu, L., De Rubeis, S., Lim, E. T., Sutcliffe, J. S., Schellenberg, G. D., Gibbs, R. A., Daly, M. J., Buxbaum, J. D., et al. (2013) · PLoS Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Pasaniuc, B., Rohland, N., McLaren, P. J., Garimella, K., Zaitlen, N., Li, H., Gupta, N., Neale, B. M., Daly, M. J., Sklar, P., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

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Discovery of stimulation-responsive immune enhancers with CRISPR activation

Simeonov, D. R., Gowen, B. G., Boontanrart, M., Roth, T. L., Gagnon, J. D., Mumbach, M. R., Satpathy, A. T., Lee, Y., Bray, N. L., Chan, A. Y., et al. (2017) · Nature

Genomics and Chromatin DynamicsCRISPR and Genetic Engineering

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An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Werling, D. M., Brand, H., An, J.-Y., Stone, M. R., Zhu, L., Glessner, J. T., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E., et al. (2018) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

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Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables

Seddon, J. M., Reynolds, R., Maller, J., Fagerness, J. A., Daly, M. J., & Rosner, B. (2009) · Investigative Opthalmology & Visual Science

Retinal Diseases and TreatmentsRetinal Imaging and Analysis

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Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration

Yu, Y., Bhangale, T. R., Fagerness, J., Ripke, S., Thorleifsson, G., Tan, P. L., Souied, E. H., Richardson, A. J., Merriam, J. E., Buitendijk, G. H. S., et al. (2011) · Human Molecular Genetics

Retinal Diseases and TreatmentsGenetic Associations and Epidemiology

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Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches

Pinto, R. M., Dragileva, E., Kirby, A., Lloret, A., Lopez, E., St. Claire, J., Panigrahi, G. B., Hou, C., Holloway, K., Gillis, T., et al. (2013) · PLoS Genetics

Genetic Neurodegenerative DiseasesGenetic factors in colorectal cancer

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