Daly, Mark J.

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Bis, J. C., Jian, X., Kunkle, B. W., Chen, Y., Hamilton-Nelson, K. L., Bush, W. S., Salerno, W. J., Lancour, D., Ma, Y., Renton, A. E., et al. (2020) · Molecular Psychiatry

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 248

Combined Analysis from Eleven Linkage Studies of Bipolar Disorder Provides Strong Evidence of Susceptibility Loci on Chromosomes 6q and 8q

McQueen, M. B., Devlin, B., Faraone, S. V., Nimgaonkar, V. L., Sklar, P., Smoller, J. W., Abou Jamra, R., Albus, M., Bacanu, S.-A., Baron, M., et al. (2005) · The American Journal of Human Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 245

Genome-wide Association Study in a High-Risk Isolate for Multiple Sclerosis Reveals Associated Variants in STAT3 Gene

Jakkula, E., Leppä, V., Sulonen, A.-M., Varilo, T., Kallio, S., Kemppinen, A., Purcell, S., Koivisto, K., Tienari, P., Sumelahti, M.-L., et al. (2010) · The American Journal of Human Genetics

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 245

A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment

Schork, A. J., Won, H., Appadurai, V., Nudel, R., Gandal, M., Delaneau, O., Revsbech Christiansen, M., Hougaard, D. M., Bækved-Hansen, M., Bybjerg-Grauholm, J., et al. (2019) · Nature Neuroscience

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 223

Autism spectrum disorder and attention deficit hyperactivity disorder have a similar burden of rare protein-truncating variants

iPSYCH-Broad Consortium, Satterstrom, F. K., Walters, R. K., Singh, T., Wigdor, E. M., Lescai, F., Demontis, D., Kosmicki, J. A., Grove, J., Stevens, C., et al. (2019) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 209

Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors

Seddon, J. M., Reynolds, R., Yu, Y., Daly, M. J., & Rosner, B. (2011) · Ophthalmology

Retinal Diseases and TreatmentsRetinal Imaging and Analysis

Cited by 198

Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls

Pettersson, E., Lichtenstein, P., Larsson, H., Song, J., Attention Deficit/Hyperactivity Disorder Working Group of the iPSYCH-Broad-PGC Consortium, A. S. D. W. G. O. T. I.-B.-P. C., Agrawal, A., Børglum, A. D., Bulik, C. M., Daly, M. J., Davis, L. K., et al. (2019) · Psychological Medicine

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 196

zCall: a rare variant caller for array-based genotyping

Goldstein, J. I., Crenshaw, A., Carey, J., Grant, G. B., Maguire, J., Fromer, M., O’Dushlaine, C., Moran, J. L., Chambert, K., Stevens, C., et al. (2012) · Bioinformatics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 196

Host genetic variation and its microbiome interactions within the Human Microbiome Project

Kolde, R., Franzosa, E. A., Rahnavard, G., Hall, A. B., Vlamakis, H., Stevens, C., Daly, M. J., Xavier, R. J., & Huttenhower, C. (2018) · Genome Medicine

Gut microbiota and healthGenetic Associations and Epidemiology

Cited by 182

Variant TREM2 as Risk Factor for Alzheimer's Disease

Neumann, H., & Daly, M. J. (2013) · New England Journal of Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 177

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

Poultney, C. S., Goldberg, A. P., Drapeau, E., Kou, Y., Harony-Nicolas, H., Kajiwara, Y., De Rubeis, S., Durand, S., Stevens, C., Rehnström, K., et al. (2013) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 169

Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

Howrigan, D. P., Rose, S. A., Samocha, K. E., Fromer, M., Cerrato, F., Chen, W. J., Churchhouse, C., Chambert, K., Chandler, S. D., Daly, M. J., et al. (2020) · Nature Neuroscience

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 168

Recessive gene disruptions in autism spectrum disorder

Autism Sequencing Consortium, Doan, R. N., Lim, E. T., De Rubeis, S., Betancur, C., Cutler, D. J., Chiocchetti, A. G., Overman, L. M., Soucy, A., Goetze, S., et al. (2019) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 159

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

Martin, A. R., Lin, M., Granka, J. M., Myrick, J. W., Liu, X., Sockell, A., Atkinson, E. G., Werely, C. J., Möller, M., Sandhu, M. S., et al. (2017) · Cell

melanin and skin pigmentationGenetic Associations and Epidemiology

Cited by 156

Guilt beyond a reasonable doubt

Altshuler, D., & Daly, M. (2007) · Nature Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 151

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

BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

Basak, A., Hancarova, M., Ulirsch, J. C., Balci, T. B., Trkova, M., Pelisek, M., Vlckova, M., Muzikova, K., Cermak, J., Trka, J., et al. (2015) · Journal of Clinical Investigation

Hemoglobinopathies and Related DisordersGenetics and Neurodevelopmental Disorders

Cited by 147

Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders

Arloth, J., Bogdan, R., Weber, P., Frishman, G., Menke, A., Wagner, K. V., Balsevich, G., Schmidt, M. V., Karbalai, N., Czamara, D., et al. (2015) · Neuron

Stress Responses and CortisolGenetic Associations and Epidemiology

Cited by 142

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

Robinson, E. B., Samocha, K. E., Kosmicki, J. A., McGrath, L., Neale, B. M., Perlis, R. H., & Daly, M. J. (2014) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 142

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Heyne, H. O., Baez-Nieto, D., Iqbal, S., Palmer, D. S., Brunklaus, A., May, P., Collaborative, E., Johannesen, K. M., Lauxmann, S., Lemke, J. R., et al. (2020) · Science Translational Medicine

Ion channel regulation and functionGenomics and Rare Diseases

Cited by 140

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Liu, L., Sabo, A., Neale, B. M., Nagaswamy, U., Stevens, C., Lim, E., Bodea, C. A., Muzny, D., Reid, J. G., Banks, E., et al. (2013) · PLoS Genetics

Autism Spectrum Disorder ResearchGenomics and Rare Diseases

Cited by 135

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

Raychaudhuri, S., Korn, J. M., McCarroll, S. A., The International Schizophrenia Consortium, Altshuler, D., Sklar, P., Purcell, S., & Daly, M. J. (2010) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 131

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Zhou, W., Brumpton, B., Kabil, O., Gudmundsson, J., Thorleifsson, G., Weinstock, J., Zawistowski, M., Nielsen, J. B., Chaker, L., Medici, M., et al. (2020) · Nature Communications

Genetic Associations and EpidemiologyThyroid Disorders and Treatments

Cited by 129

ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social communication difficulties

iPSYCH-SSI-Broad Autism Group, St Pourcain, B., Robinson, E. B., Anttila, V, Sullivan, B. B., Maller, J., Golding, J., Skuse, D., Ring, S., Evans, D. M., et al. (2018) · Molecular Psychiatry

Autism Spectrum Disorder ResearchSchizophrenia research and treatment

Cited by 125