檢索結果 - August Yue Huang

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  1. 1
    AutismKB: an evidence-based knowledgebase of autism genetics

    AutismKB: an evidence-based knowledgebase of autism genetics 由 Li-Ming Xu, Jia-Rui Li, August Yue Huang, Min Zhao, Xing Tang, Liping Wei

    出版 2011
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  2. 2
    MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples

    MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples 由 August Yue Huang, Zheng Zhang, Adam Yongxin Ye, Yanmei Dou, Linlin Yan, Xiaoxu Yang, Yuehua Zhang, Liping Wei

    出版 2017
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  3. 3
    Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis

    Utility of quantitative micro-computed tomographic analysis in zebrafish to define gene function during skeletogenesis 由 Julia F. Charles, M. Sury, Kelly Tsang, Katia Urso, Katrin Henke, August Yue Huang, R. Russell, J. Duryea, Matthew P. Harris

    出版 2017
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  4. 4
    Profiling the RNA editomes of wild-type <i>C. elegans</i> and ADAR mutants

    Profiling the RNA editomes of wild-type <i>C. elegans</i> and ADAR mutants 由 Hanqing Zhao, Pan Zhang, Hua Gao, Xiandong He, Yanmei Dou, August Yue Huang, Ximing Liu, Adam Yongxin Ye, Meng‐Qiu Dong, Liping Wei

    出版 2014
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  5. 5
    Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation

    Somatic MAP2K1 Mutations Are Associated with Extracranial Arteriovenous Malformation 由 Javier Couto, August Yue Huang, Dennis J. Konczyk, Jeremy A. Goss, Steven J. Fishman, John B. Mulliken, Matthew L. Warman, Arin K. Greene

    出版 2017
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  6. 6
    Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals

    Somatic LINE-1 retrotransposition in cortical neurons and non-brain tissues of Rett patients and healthy individuals 由 Boxun Zhao, Qixi Wu, Adam Yongxin Ye, Jing Guo, Xianing Zheng, Xiaoxu Yang, Linlin Yan, Qing‐Rong Liu, Thomas M. Hyde, Liping Wei, August Yue Huang

    出版 2019
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  7. 7
    Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations

    Postzygotic single‐nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations 由 Yanmei Dou, Xiaoxu Yang, Ziyi Li, Sheng Wang, Zheng Zhang, Adam Yongxin Ye, Linlin Yan, Changhong Yang, Qixi Wu, Jiarui Li, Boxun Zhao, August Yue Huang, Liping Wei

    出版 2017
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  8. 8
    Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort

    Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort 由 Xiaoxu Yang, Aijie Liu, Xiaojing Xu, Xiaoling Yang, Qi Zeng, Adam Yongxin Ye, Zhe Yu, Sheng Wang, August Yue Huang, Xiru Wu, Qixi Wu, Liping Wei, Yuehua Zhang

    出版 2017
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  9. 9
    A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth

    A somatic GNA11 mutation is associated with extremity capillary malformation and overgrowth 由 Javier Couto, Ugur M. Ayturk, Dennis J. Konczyk, Jeremy A. Goss, August Yue Huang, Steve Hann, Jennifer Reeve, Marilyn G. Liang, Joyce Bischoff, Matthew L. Warman, Arin K. Greene

    出版 2017
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  10. 10
    Somatic mutations in intracranial arteriovenous malformations

    Somatic mutations in intracranial arteriovenous malformations 由 Jeremy A. Goss, August Yue Huang, Edward R. Smith, Dennis J. Konczyk, Patrick Smits, Christopher L. Sudduth, Christopher J. Stapleton, Aman B. Patel, Sanda Alexandrescu, Matthew L. Warman, Arin K. Greene

    出版 2019
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  11. 11
    Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “ <i>de novo</i> ” <i>SCN1A</i> Mutations in Children with Dravet Syndrome

    Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “ <i>de novo</i> ” <i>SCN1A</i> Mutations in Children with Dravet Syndrome 由 Xiaojing Xu, Xiaoxu Yang, Qixi Wu, Aijie Liu, Xiaoling Yang, Adam Yongxin Ye, August Yue Huang, Jiarui Li, Meng Wang, Zhe Yu, Sheng Wang, Zhichao Zhang, Xiru Wu, Liping Wei, Yuehua Zhang

    出版 2015
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  12. 12
    Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

    Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma 由 Ugur M. Ayturk, Javier Couto, Steven Hann, John B. Mulliken, Kaitlin L. Williams, August Yue Huang, Steven J. Fishman, Theonia K. Boyd, Harry P. Kozakewich, Joyce Bischoff, Arin K. Greene, Matthew L. Warman

    出版 2016
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  13. 13
    Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma

    Somatic Activating Mutations in GNAQ and GNA11 Are Associated with Congenital Hemangioma 由 Ugur M. Ayturk, Javier Couto, Steven Hann, John B. Mulliken, Kaitlin L. Williams, August Yue Huang, Steven J. Fishman, Theonia K. Boyd, Harry P. Kozakewich, Joyce Bischoff, Arin K. Greene, Matthew L. Warman

    出版 2016
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  14. 14
    AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder

    AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder 由 Changhong Yang, Jiarui Li, Qixi Wu, Xiaoxu Yang, August Yue Huang, Yuehua Zhang, Adam Yongxin Ye, Yanmei Dou, Linlin Yan, Wei‐Zhen Zhou, Lei Kong, Meng Wang, Ai Chen, De-Chang Yang, Liping Wei

    出版 2018
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  15. 15
    Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity

    Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity 由 Sangita Choudhury, August Yue Huang, Jun‐Ho Kim, Zinan Zhou, Katherine Morillo, Eduardo A. Maury, Jessica W. Tsai, Michael B. Miller, Michael A. Lodato, Sarah Araten, Nazia Hilal, Eunjung Alice Lee, Ming Hui Chen, Christopher A. Walsh

    出版 2022
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  16. 16
    Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain

    Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain 由 August Yue Huang, Pengpeng Li, Rachel E. Rodin, Sonia N. Kim, Yanmei Dou, Connor Kenny, Shyam K. Akula, Rebecca D. Hodge, Trygve E. Bakken, Jeremy A. Miller, Ed S. Lein, Peter J. Park, Eunjung Alice Lee, Christopher A. Walsh

    出版 2020
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  17. 17
    Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

    Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals 由 August Yue Huang, Xiaojing Xu, Adam Yongxin Ye, Qixi Wu, Linlin Yan, Boxun Zhao, Xiaoxu Yang, Yao He, Sheng Wang, Zheng Zhang, Bowen Gu, Hanqing Zhao, Meng Wang, Hua Gao, Ge Gao, Zhichao Zhang, Xiaoling Yang, Xiru Wu, Yuehua Zhang, Liping Wei

    出版 2014
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  18. 18
    Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy

    Diverse somatic genomic alterations in single neurons in chronic traumatic encephalopathy 由 Guanlan Dong, C. Chanthia, Shulin Mao, S. T. Naik, Katherine Brown, Gannon A. McDonough, Junho Kim, Samantha L. Kirkham, Jonathan D. Cherry, Madeline Uretsky, Elizabeth J. Spurlock, Ann C. McKee, August Yue Huang, Michael B. Miller, Eunjung Alice Lee, Christopher A. Walsh

    出版 2025
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  19. 19
    Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders

    Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disorders 由 Zinan Zhou, Lovelace J. Luquette, Guanlan Dong, Junho Kim, Jayoung Ku, K M Kim, Mingyun Bae, Diane D. Shao, Bezawit Sahile, Michael B. Miller, August Yue Huang, William J. Nathan, André Nussenzweig, Peter J. Park, Clotilde Lagier‐Tourenne, Eunjung Alice Lee, Christopher A. Walsh

    出版 2025
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  20. 20
    Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants

    Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants 由 Alissa M. D’Gama, H. Westley Phillips, Yilan Wang, Michelle Chiu, Yasmine Chahine, Amanda Cantu Swanson, Richard S Smith, Phillip L. Pearl, Melissa Tsuboyama, Joseph R. Madsen, Hart G.W. Lidov, Eunjung Alice Lee, Sanjay P. Prabhu, August Yue Huang, Scellig Stone, Christopher A. Walsh, Annapurna Poduri

    出版 2025
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