Hasil Pencarian - Linyan Meng

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  1. 1
    O02: Pathogenicity mechanism and gene therapy of hereditary spastic paraplegia caused by recurrent UBAP1 variant

    O02: Pathogenicity mechanism and gene therapy of hereditary spastic paraplegia caused by recurrent UBAP1 variant oleh Shen Gu, Nicolas Ho, Lipeng Ding, Yijyun Lin, Linyan Meng

    Diterbitkan 2024-01-01
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  2. 2
    Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.

    Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model. oleh Linyan Meng, Richard Erwin Person, Wei Huang, Ping Jun Zhu, Mauro Costa-Mattioli, Arthur L Beaudet

    Diterbitkan 2013-01-01
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  3. 3
    P730: Development of comprehensive gene-/disease-specific analysis and knowledgebase to enhance the efficiency and accuracy of sequence variant interpretation and clinical reporting

    P730: Development of comprehensive gene-/disease-specific analysis and knowledgebase to enhance the efficiency and accuracy of sequence variant interpretation and clinical reportin... oleh Dandan He, Yingjun Jiang, Yuandong Peng, Yaran Wen, Jun Yang, Ying Zhou, John Lattier, Linyan Meng, Xi Luo

    Diterbitkan 2024-01-01
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  4. 4
    P681: Carrier screening with the ACMG 113: An early look and new insights

    P681: Carrier screening with the ACMG 113: An early look and new insights oleh Vivienne Souter, Erin Armentti, Madeleine Armer-Cabral, Emily Becraft, Jennifer Saucier, Elizabeth Repass, Linyan Meng, Peter Benn, Yang Wang

    Diterbitkan 2024-01-01
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  5. 5
    P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders

    P682: Phenotype expansion or multilocus variants? Additional molecular findings in patients with well-known chromosomal disorders oleh Amir Hossein Saeidian, Liesbeth Vossaert, Elizabeth Mizerik, Wilson CW. Wu, Hongzheng Dai, Nichole Owen, Janice Smith, Linyan Meng, Christine Eng, Fan Xia, Weimin Bi, Xiaonan Zhao

    Diterbitkan 2024-01-01
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  6. 6
    Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients

    Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients oleh Lei Wang, Pengfei Liu, Weimin Bi, Teresa Sim, Xia Wang, Magdalene Walkiewicz, Magalie Sophie Leduc, Linyan Meng, Fan Xia, Christine M. Eng, Yaping Yang, Bo Yuan, Hongzheng Dai

    Diterbitkan 2021-11-01
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  7. 7
    P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases

    P722: Low-level large deletions in mitochondria genomes: A potential diagnosis of mitochondrial diseases oleh Jun Yang, Tiansheng Chen, Eric Kao, Jie Dong, John Lattier, Hongzheng Dai, Linyan Meng, Fan Xia, Eric Schmitt, Sandra Peacock, William Craigen, Robert Rigobello, Lee-Jun Wong, Christine Eng, Yue Wang

    Diterbitkan 2024-01-01
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  8. 8
    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action

    Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action oleh Vaidehi Jobanputra, Brock Schroeder, Heidi L. Rehm, Wei Shen, Elizabeth Spiteri, Ghunwa Nakouzi, Stacie Taylor, Christian R. Marshall, Linyan Meng, Stephen F. Kingsmore, Katarzyna Ellsworth, Euan Ashley, Ryan J. Taft, on behalf of the Medical Genome Initiative

    Diterbitkan 2024-03-01
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  9. 9
    A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

    A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing oleh Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

    Diterbitkan 2019-07-01
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  10. 10
    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

    Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder oleh Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E. Westerfield, Samantha Stover, Avinash V. Dharmadhikari, Donna M. Muzny, Richard A. Gibbs, Hongzheng Dai, Linyan Meng, Xia Wang, Rui Xiao, Pengfei Liu, Weimin Bi, Fan Xia, Magdalena Walkiewicz, Ignatia B. Van den Veyver, Christine M. Eng, Yaping Yang

    Diterbitkan 2018-09-01
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  11. 11
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing oleh Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*

    Diterbitkan 2022-04-01
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  12. 12
    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

    Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases oleh Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia A. Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice L. Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

    Diterbitkan 2019-05-01
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  13. 13
    De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

    De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities oleh Volkan Okur, Zefu Chen, Liesbeth Vossaert, Sandra Peacock, Jill Rosenfeld, Lina Zhao, Haowei Du, Emily Calamaro, Amanda Gerard, Sen Zhao, Jill Kelsay, Ashley Lahr, Chloe Mighton, Hillary M. Porter, Amy Siemon, Josh Silver, Shayna Svihovec, Chin-To Fong, Christina L. Grant, Jordan Lerner-Ellis, Kandamurugu Manickam, Suneeta Madan-Khetarpal, Shawn E. McCandless, Chantal F. Morel, G. Bradley Schaefer, Elizabeth M. Berry-Kravis, Ryan Gates, Natalia Gomez-Ospina, Guixing Qiu, Terry Jianguo Zhang, Zhihong Wu, Linyan Meng, Pengfei Liu, Daryl A. Scott, James R. Lupski, Christine M. Eng, Nan Wu, Bo Yuan

    Diterbitkan 2021-12-01
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