Neale, Benjamin M.

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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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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Genetic analyses identify widespread sex-differential participation bias

Pirastu, N., Cordioli, M., Nandakumar, P., Mignogna, G., Abdellaoui, A., Hollis, B., Kanai, M., Rajagopal, V. M., Parolo, P. D. B., Baya, N., et al. (2021) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 251

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

Multivariate genome-wide association meta-analysis of over 1 million subjects identifies loci underlying multiple substance use disorders

Hatoum, A. S., Colbert, S. M. C., Johnson, E. C., Huggett, S. B., Deak, J. D., Pathak, G. A., Jennings, M. V., Paul, S. E., Karcher, N. R., Hansen, I., et al. (2023) · Nature Mental Health

Genetic Associations and EpidemiologySubstance Abuse Treatment and Outcomes

Cited by 241

Comparison of methods that use whole genome data to estimate the heritability and genetic architecture of complex traits

Haplotype Reference Consortium, Evans, L. M., Tahmasbi, R., Vrieze, S. I., Abecasis, G. R., Das, S., Gazal, S., Bjelland, D. W., de Candia, T. R., Goddard, M. E., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

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Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Mullins, N., Kang, J., Campos, A. I., Coleman, J. R. I., Edwards, A. C., Galfalvy, H., Levey, D. F., Lori, A., Shabalin, A., Starnawska, A., et al. (2022) · Biological Psychiatry

Suicide and Self-Harm StudiesGenetic Associations and Epidemiology

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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

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Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

Schizophrenia Working Group of the Psychiatric Genomics Consortium, Franke, B., Enigma Consortium, Stein, J. L., Ripke, S., Anttila, V., Hibar, D. P., van Hulzen, K. J. E., Arias-Vasquez, A., Smoller, J. W., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenetic Associations and Epidemiology

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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

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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

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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

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Problems with Using Polygenic Scores to Select Embryos

Turley, P., Meyer, M. N., Wang, N., Cesarini, D., Hammonds, E., Martin, A. R., Neale, B. M., Rehm, H. L., Wilkins-Haug, L., Benjamin, D. J., et al. (2021) · New England Journal of Medicine

Prenatal Screening and DiagnosticsAssisted Reproductive Technology and Twin Pregnancy

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Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia

Bergen, S. E., Ploner, A., Howrigan, D., CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium, O’Donovan, M. C., Smoller, J. W., Sullivan, P. F., Sebat, J., Neale, B., & Kendler, K. S. (2019) · American Journal of Psychiatry

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

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Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: Genome‐wide association study of both common and rare variants

Yang, L., Neale, B. M., Liu, L., Lee, S. H., Wray, N. R., Ji, N., Li, H., Qian, Q., Wang, D., Li, J., et al. (2013) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

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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

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High Loading of Polygenic Risk for ADHD in Children With Comorbid Aggression

Hamshere, M. L., Langley, K., Martin, J., Agha, S. S., Stergiakouli, E., Anney, R. J. L., Buitelaar, J., Faraone, S. V., Lesch, K.-P., Neale, B. M., et al. (2013) · American Journal of Psychiatry

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

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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

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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

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Copy number variation in obsessive-compulsive disorder and tourette syndrome: A cross-disorder study

McGrath, L. M., Yu, D., Marshall, C., Davis, L. K., Thiruvahindrapuram, B., Li, B., Cappi, C., Gerber, G., Wolf, A., Schroeder, F. A., et al. (2014) · Journal of the American Academy of Child & Adolescent Psychiatry

Obsessive-Compulsive Spectrum DisordersGenomic variations and chromosomal abnormalities

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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

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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

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Whole-genome analyses of whole-brain data: working within an expanded search space

Medland, S. E., Jahanshad, N., Neale, B. M., & Thompson, P. M. (2014) · Nature Neuroscience

Genetic Associations and EpidemiologyFunctional Brain Connectivity Studies

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