State, Matthew W.

Synaptic, transcriptional and chromatin genes disrupted in autism

Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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The contribution of de novo coding mutations to autism spectrum disorder

Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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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

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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

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Autism spectrum disorder

Lord, C., Brugha, T. S., Charman, T., Cusack, J., Dumas, G., Frazier, T., Jones, E. J. H., Jones, R. M., Pickles, A., State, M. W., et al. (2020) · Nature Reviews Disease Primers

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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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

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Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Cited by 1,263

Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder

Gandal, M. J., Zhang, P., Hadjimichael, E., Walker, R. L., Chen, C., Liu, S., Won, H., van Bakel, H., Varghese, M., Wang, Y., et al. (2018) · Science

Autism Spectrum Disorder ResearchSchizophrenia research and treatment

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Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

Gandal, M. J., Haney, J. R., Parikshak, N. N., Leppa, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2018) · Science

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 1,095

Common genetic variants on 5p14.1 associate with autism spectrum disorders

Wang, K., Zhang, H., Ma, D., Bucan, M., Glessner, J. T., Abrahams, B. S., Salyakina, D., Imielinski, M., Bradfield, J. P., Sleiman, P. M. A., et al. (2009) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Comprehensive functional genomic resource and integrative model for the human brain

Wang, D., Liu, S., Warrell, J., Won, H., Shi, X., Navarro, F. C. P., Clarke, D., Gu, M., Emani, P., Yang, Y. T., et al. (2018) · Science

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

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Sequence Variants in SLITRK1 Are Associated with Tourette's Syndrome

Abelson, J. F., Kwan, K. Y., O'Roak, B. J., Baek, D. Y., Stillman, A. A., Morgan, T. M., Mathews, C. A., Pauls, D. L., Rašin, M.-R., Gunel, M., et al. (2005) · Science

Obsessive-Compulsive Spectrum DisordersGenetics and Neurodevelopmental Disorders

Cited by 940

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism

Willsey, A. J., Sanders, S. J., Li, M., Dong, S., Tebbenkamp, A. T., Muhle, R. A., Reilly, S. K., Lin, L., Fertuzinhos, S., Miller, J. A., et al. (2013) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Rare independent mutations in renal salt handling genes contribute to blood pressure variation

Ji, W., Foo, J. N., O'Roak, B. J., Zhao, H., Larson, M. G., Simon, D. B., Newton-Cheh, C., State, M. W., Levy, D., & Lifton, R. P. (2008) · Nature Genetics

Blood Pressure and Hypertension StudiesGenetic Associations and Epidemiology

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Integrative functional genomic analysis of human brain development and neuropsychiatric risks

Li, M., Santpere, G., Imamura Kawasawa, Y., Evgrafov, O. V., Gulden, F. O., Pochareddy, S., Sunkin, S. M., Li, Z., Shin, Y., Zhu, Y., et al. (2018) · Science

Genetics and Neurodevelopmental DisordersGenomics and Chromatin Dynamics

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Functional and Evolutionary Insights into Human Brain Development through Global Transcriptome Analysis

Johnson, M. B., Kawasawa, Y. I., Mason, C. E., Krsnik, Ž., Coppola, G., Bogdanović, D., Geschwind, D. H., Mane, S. M., State, M. W., & Šestan, N. (2009) · Neuron

Developmental Biology and Gene RegulationGenetics and Neurodevelopmental Disorders

Cited by 603

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders

Bakkaloglu, B., O'Roak, B. J., Louvi, A., Gupta, A. R., Abelson, J. F., Morgan, T. M., Chawarska, K., Klin, A., Ercan-Sencicek, A. G., Stillman, A. A., et al. (2008) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 503

The PsychENCODE project

Akbarian, S., Liu, C., Knowles, J. A., Vaccarino, F. M., Farnham, P. J., Crawford, G. E., Jaffe, A. E., Pinto, D., Dracheva, S., Geschwind, D. H., et al. (2015) · Nature Neuroscience

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Yu, T. W., Chahrour, M. H., Coulter, M. E., Jiralerspong, S., Okamura-Ikeda, K., Ataman, B., Schmitz-Abe, K., Harmin, D. A., Adli, M., Malik, A. N., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Common genetic variants, acting additively, are a major source of risk for autism

Klei, L., Sanders, S. J., Murtha, M. T., Hus, V., Lowe, J. K., Willsey, A. J., Moreno-De-Luca, D., Yu, T. W., Fombonne, E., Geschwind, D., et al. (2012) · Molecular Autism

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment

Cotney, J., Muhle, R. A., Sanders, S. J., Liu, L., Willsey, A. J., Niu, W., Liu, W., Klei, L., Lei, J., Yin, J., et al. (2015) · Nature Communications

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

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Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Novarino, G., El-Fishawy, P., Kayserili, H., Meguid, N. A., Scott, E. M., Schroth, J., Silhavy, J. L., Kara, M., Khalil, R. O., Ben-Omran, T., et al. (2012) · Science

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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