The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
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Published:2021-01-11
Issue:2
Volume:24
Page:176-185
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ISSN:1097-6256
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Container-title:Nature Neuroscience
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language:en
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Short-container-title:Nat Neurosci
Author:
Rodin Rachel E., Dou Yanmei, Kwon Minseok, Sherman Maxwell A.ORCID, D’Gama Alissa M., Doan Ryan N., Rento Lariza M., Girskis Kelly M., Bohrson Craig L., Kim Sonia N., Nadig Ajay, Luquette Lovelace J.ORCID, Gulhan Doga C., Walsh Christopher A., Ganz Javier, Woodworth Mollie B., Li Pengpeng, Rodin Rachel E., Hill Robert S., Bizzotto Sara, Zhou Zinan, Lee Eunjung A., Barton Alison R., D’Gama Alissa M., Galor Alon, Bohrson Craig L., Kwon Daniel, Gulhan Doga C., Lim Elaine T., Cortes Isidro Ciriano, Luquette Lovelace J., Sherman Maxwell A., Coulter Michael E., Lodato Michael A., Park Peter J., Monroy Rebeca B., Kim Sonia N., Dou Yanmei, Chess Andrew, Gulyás-Kovács Attila, Rosenbluh Chaggai, Akbarian Schahram, Ben Langmead , Thorpe Jeremy, Pevsner Jonathan, Cho Soonweng, Jaffe Andrew E., Paquola Apua, Weinberger Daniel R., Erwin Jennifer A., Shin Jooheon H., Straub Richard E., Narurkar Rujuta, Abyzov Alexej S., Bae Taejeong, Addington Anjene, Panchision David, Meinecke Doug, Senthil Geetha, Bingaman Lora, Dutka Tara, Lehner Thomas, Saucedo-Cuevas Laura, Conniff Tara, Daily Kenneth, Peters Mette, Gage Fred H., Wang Meiyan, Reed Patrick J., Linker Sara B., Urban Alex E., Zhou Bo, Zhu Xiaowei, Serres Aitor, Juan David, Povolotskaya Inna, Lobón Irene, Solis-Moruno Manuel, García-Pérez Raquel, Marquès-Bonet Tomas, Mathern Gary W., Courchesne Eric, Gu Jing, Gleeson Joseph G., Ball Laurel L., George Renee D., Pramparo Tiziano, Flasch Diane A., Frisbie Trenton J., Kidd Jeffrey M., Moldovan John B., Moran John V., Kwan Kenneth Y., Mills Ryan E., Emery Sarah B., Zhou Weichen, Wang Yifan, Ratan Aakrosh, McConnell Michael J., Vaccarino Flora M., Coppola Gianfilippo, Lennington Jessica B., Fasching Liana, Sestan Nenad, Pochareddy Sirisha, Park Peter J.ORCID, Walsh Christopher A.ORCID,
Funder
U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences U.S. Department of Health & Human Services | NIH | National Institute of Mental Health U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke Stuart H.Q. and Victoria Quan Fellowship in Neurobiology Harvard Ludwig Center U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute
Publisher
Springer Science and Business Media LLC
Subject
General Neuroscience
Reference72 articles.
1. Lynch, M. Rate, molecular spectrum, and consequences of human mutation. Proc. Natl Acad. Sci. USA 107, 961–968 (2010). 2. D’Gama, A. M. et al. Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia. Ann. Neurol. 77, 720–725 (2015). 3. Lim, J. S. et al. Somatic mutations in TSC1 and TSC2 cause focal cortical dysplasia. Am. J. Hum. Genet. 100, 454–472 (2017). 4. Nakashima, M. et al. Somatic mutations in the MTOR gene cause focal cortical dysplasia type IIb. Ann. Neurol. 78, 375–386 (2015). 5. Erickson, R. P. Recent advances in the study of somatic mosaicism and diseases other than cancer. Curr. Opin. Genet. Dev. 26, 73–78 (2014).
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