Hasil Pencarian - Kaitlin E Samocha

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  1. 1
    Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.

    Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation. oleh Jinmyung Choi, Parisa Shooshtari, Kaitlin E Samocha, Mark J Daly, Chris Cotsapas

    Diterbitkan 2016-06-01
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  2. 2
    Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

    Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery oleh Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li, the SHaRe Investigators, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin, James S. Ware

    Diterbitkan 2024-07-01
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  3. 3
    Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

    Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders oleh Emilie M. Wigdor, Kaitlin E. Samocha, Ruth Y. Eberhardt, V. Kartik Chundru, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Hilary C. Martin

    Diterbitkan 2024-04-01
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  4. 4
    Contribution of retrotransposition to developmental disorders

    Contribution of retrotransposition to developmental disorders oleh Eugene J. Gardner, Elena Prigmore, Giuseppe Gallone, Petr Danecek, Kaitlin E. Samocha, Juliet Handsaker, Sebastian S. Gerety, Holly Ironfield, Patrick J. Short, Alejandro Sifrim, Tarjinder Singh, Kate E. Chandler, Emma Clement, Katherine L. Lachlan, Katrina Prescott, Elisabeth Rosser, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

    Diterbitkan 2019-10-01
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  5. 5
    The contribution of X-linked coding variation to severe developmental disorders

    The contribution of X-linked coding variation to severe developmental disorders oleh Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari E. K. Niemi, Giuseppe Gallone, Jeremy McRae, Deciphering Developmental Disorders Study, Caroline F. Wright, David R. FitzPatrick, Helen V. Firth, Matthew E. Hurles

    Diterbitkan 2021-01-01
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  6. 6
    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders oleh Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

    Diterbitkan 2020-03-01
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  7. 7
    Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

    Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls. oleh Li Liu, Aniko Sabo, Benjamin M Neale, Uma Nagaswamy, Christine Stevens, Elaine Lim, Corneliu A Bodea, Donna Muzny, Jeffrey G Reid, Eric Banks, Hillary Coon, Mark Depristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Bernie Devlin, Gerard D Schellenberg, James S Sutcliffe, Mark J Daly, Richard A Gibbs, Kathryn Roeder

    Diterbitkan 2013-04-01
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