Хайлтын үр дүнгүүд - Linyan Meng

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  1. 1
    Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

    Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a -н Linyan Meng, Richard Person, Arthur L. Beaudet

    Хэвлэсэн 2012
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    Artigo
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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 -н Linyan Meng, Richard Person, Wei Huang, Ping Zhu, Mauro Costa‐Mattioli, Arthur L. Beaudet

    Хэвлэсэн 2013
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    Artigo
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  3. 3
    Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

    Towards a therapy for Angelman syndrome by targeting a long non-coding RNA -н Linyan Meng, Amanda J. Ward, Seung Chun, C. Frank Bennett, Arthur L. Beaudet, Frank Rigo

    Хэвлэсэн 2014
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    Artigo
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  4. 4
    Validation of the diagnosis of autism in general practitioner records

    Validation of the diagnosis of autism in general practitioner records -н Éric Fombonne, Lisa Heavey, Liam Smeeth, Laura C. Rodrigues, Claire Cook, Peter G. Smith, Linyan Meng, Andrew J. Hall

    Хэвлэсэн 2004
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    Artigo
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  5. 5
    Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory

    Evaluation of an automated genome interpretation model for rare disease routinely used in a clinical genetic laboratory -н Linyan Meng, Ruben Attali, Tomer Talmy, Yakir Regev, Niv Mizrahi, Pola Smirin‐Yosef, Liesbeth Vossaert, Christian Taborda, Michael Santana, Ido Machol, Rui Xiao, Hongzheng Dai, Christine M. Eng, Fan Xia, Shay Tzur

    Хэвлэсэн 2023
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    Artigo
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  6. 6
    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 -н Ye Cao, Mari 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 A. Shaw, Pengfei Liu, Paweł Stankiewicz

    Хэвлэсэн 2019
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    Artigo
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  7. 7
    Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority Study

    Intranasal Glucagon for Treatment of Insulin-Induced Hypoglycemia in Adults With Type 1 Diabetes: A Randomized Crossover Noninferiority Study -н Michael R. Rickels, Katrina J. Ruedy, Nicole C. Foster, Claude A. Piché, Hélène Dulude, Jennifer L. Sherr, William V. Tamborlane, Kathleen E. Bethin, Linda A. DiMeglio, R. Paul Wadwa, Andrew Ahmann, Michael J. Haller, Brandon M. Nathan, Santica M. Marcovina, Emmanouil Rampakakis, Linyan Meng, Roy W. Beck

    Хэвлэсэн 2015
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    Artigo
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  8. 8
    Glucagon Nasal Powder: A Promising Alternative to Intramuscular Glucagon in Youth With Type 1 Diabetes

    Glucagon Nasal Powder: A Promising Alternative to Intramuscular Glucagon in Youth With Type 1 Diabetes -н Jennifer L. Sherr, Katrina J. Ruedy, Nicole C. Foster, Claude A. Piché, Hélène Dulude, Michael R. Rickels, William V. Tamborlane, Kathleen E. Bethin, Linda A. DiMeglio, Larry A. Fox, R. Paul Wadwa, Desmond Schatz, Brandon M. Nathan, Santica M. Marcovina, Emmanouil Rampakakis, Linyan Meng, Roy W. Beck

    Хэвлэсэн 2016
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    Artigo
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  9. 9
    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders

    AI-MARRVEL — A Knowledge-Driven AI System for Diagnosing Mendelian Disorders -н Dongxue Mao, Chaozhong Liu, Linhua Wang, Rami AI-Ouran, Cole A. Deisseroth, Sasidhar Pasupuleti, S. Kim, Lucian Li, Jill A. Rosenfeld, Linyan Meng, Lindsay C. Burrage, Michael F. Wangler, Shinya Yamamoto, Martha Guadalupe Zárate Santana, Victor L. Perez, Priyank Shukla, Christine M. Eng, Brendan Lee, Bo Yuan, Fan Xia, Hugo J. Bellen, Pengfei Liu, Zhandong Liu

    Хэвлэсэн 2024
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    Artigo
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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 -н Elizabeth A. Normand, Alicia Braxton, Salma Nassef, Patricia A. Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren 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

    Хэвлэсэн 2018
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    Artigo
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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 -н Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Edwin J. Young, Sarah Barnett, John W. Belmont, Nicole J. Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse A. Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas‐Wilson, Hutton M. Kearney, Heidi L. Rehm

    Хэвлэсэн 2022
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    Revisão
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  12. 12
    The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing

    The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel seq... -н Yanming Feng, Xiaoyan Ge, Linyan Meng, Jennifer Scull, Jianli Li, Tian Xia, Tao Zhang, Weihong Jin, Hanyin Cheng, Xia Wang, Mari Tokita, Pengfei Liu, Hui Mei, Yue Wang, Fangyuan Li, Eric Schmitt, Victor Wei Zhang, Donna M. Muzny, Shu Wen, Chen Zhao, Yaping Yang, Arthur L. Beaudet, Xiaoming Liu, Christine M. Eng, Fan Xia, Lee‐Jun C. Wong, Jinglan Zhang

    Хэвлэсэн 2017
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    Artigo
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  13. 13
    Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15

    Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15 -н Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F. Rope, Sarah Rosenheck, Sébastien Moutton, Christophe Philippe, Wafaa Eyaid, Fowzan S. Alkuraya, Janet Toribio, Rafael Mena, Carlos E. Prada, Holly A.F. Stessman, Raphael Bernier, Marieke Wermuth, Brice Kauffmann, Bettina Blaumeiser, R. Frank Kooy, Diana Baralle, Grazia M.S. Mancini, Simon J. Conway, Fan Xia, Chen Zhao, Linyan Meng, Ljubisa Mihajlovic, Ronen Marmorstein, Gholson J. Lyon

    Хэвлэсэн 2019
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    Artigo
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  14. 14
    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

    CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels -н Bo Yuan, Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A. Anderson, Linyan Meng, Xia Wang, Yue Wang, Fan Xia, Rui Xiao, Alicia Braxton, Sandra Peacock, Eric Schmitt, Patricia A. Ward, Francesco Vetrini, Weimin He, Theodore Chiang, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, Carlos A. Bacino, Christine M. Eng, Yaping Yang, James R. Lupski, Weimin Bi

    Хэвлэсэн 2020
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    Artigo
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  15. 15
    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 -н 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 Braxton, Patricia A. Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice Smith, Seema R. Lalani, Paweł Stankiewicz, Sau Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

    Хэвлэсэн 2019
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    Artigo
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  16. 16
    Use of Exome Sequencing for Infants in Intensive Care Units

    Use of Exome Sequencing for Infants in Intensive Care Units -н Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew R. Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V. Dharmadhikari, Chunjing Qu, Patricia A. Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari Tokita, Teresa Santiago‐Sim, Hongzheng Dai, Theodore Chiang, Hadley Stevens Smith, Mahshid S. Azamian, Laurie Robak, Bret L. Bostwick, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A. Bacino, Neil A. Hanchard, Michael F. Wangler, Daryl A. Scott, Chester Brown, Jianhong Hu, John W. Belmont, Lindsay C. Burrage, Brett H. Graham, V. Reid Sutton, William J. Craigen, Sharon E. Plon, James R. Lupski, Arthur L. Beaudet, Richard A. Gibbs, Donna M. Muzny, Marcus J. Miller, Xia Wang, Magalie S. Leduc, Rui Xiao, Pengfei Liu, Chad A. Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M. Eng, Yaping Yang, Seema R. Lalani

    Хэвлэсэн 2017
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    Artigo
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  17. 17
    Reanalysis of Clinical Exome Sequencing Data

    Reanalysis of Clinical Exome Sequencing Data -н Pengfei Liu, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew R. Ghazi, Jill A. Rosenfeld, Pilar Magoulas, Alicia Braxton, Patricia A. Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya N. Eble, Yasemen Eroğlu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen W. Gripp, Soledad Kleppe, Mary Kay Koenig, Andrea M. Lewis, Marvin R. Natowicz, Pedro Mancías, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary J. Vernon, Crescenda L Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema R. Lalani, Chad A. Shaw, Christine M. Eng, James R. Lupski, Yaping Yang

    Хэвлэсэн 2019
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    Carta
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  18. 18
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder -н Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Хэвлэсэн 2019
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    Artigo
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  19. 19
    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies

    Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies -н Hanyin Cheng, Avinash V. Dharmadhikari, Sylvia Varland, Nan Ma, Deepti Domingo, Robert Kleyner, Alan F. Rope, Margaret S. Yoon, Asbjørg Stray‐Pedersen, Jennifer E. Posey, Sarah R. Crews, Mohammad K. Eldomery, Zeynep Coban‐Akdemir, Andrea M. Lewis, V. Reid Sutton, Jill A. Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A. High, Marjon A. van Slegtenhorst, Grazia M.S. Mancini, Candice R. Finnila, Arie van Haeringen, Nicolette S. den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E. Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S. Beighley, Raphael Bernier, Sébastien Küry, Mathilde Nizon, Mark Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S. Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J. Jongmans, Bert B.A. de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K. Rojas, Kym M. Boycott, Richard Person, Rebecca Willaert, Evan E. Eichler, R. Frank Kooy, Yaping Yang, Joseph C. Wu, James R. Lupski, Thomas Arnesen, Gregory M. Cooper, Wendy K. Chung, Jozef Gécz, Holly A.F. Stessman, Linyan Meng, Gholson J. Lyon

    Хэвлэсэн 2018
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    Artigo
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  20. 20
    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change -н Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm

    Хэвлэсэн 2023
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    Artigo
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