Search Results - Samocha, Kaitlin E.

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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 by Choi, Jinmyung, Shooshtari, Parisa, Samocha, Kaitlin E., Daly, Mark J., Cotsapas, Chris

    Published 2016
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  2. 2
    Genome-Wide Association Studies and the Problem of Relatedness Among Advanced Intercross Lines and Other Highly Recombinant Populations

    Genome-Wide Association Studies and the Problem of Relatedness Among Advanced Intercross Lines and Other Highly Recombinant Populations by Cheng, Riyan, Lim, Jackie E., Samocha, Kaitlin E., Sokoloff, Greta, Abney, Mark, Skol, Andrew D., Palmer, Abraham A.

    Published 2010
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  3. 3
    Autism spectrum disorder severity reflects the average contribution of de novo and familial influences

    Autism spectrum disorder severity reflects the average contribution of de novo and familial influences by Robinson, Elise B., Samocha, Kaitlin E., Kosmicki, Jack A., McGrath, Lauren, Neale, Benjamin M., Perlis, Roy H., Daly, Mark J.

    Published 2014
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  4. 4
    Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

    Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides by Zhang, Sidi, Samocha, Kaitlin E., Rivas, Manuel A., Karczewski, Konrad J., Daly, Emma, Schmandt, Ben, Neale, Benjamin M., MacArthur, Daniel G., Daly, Mark J.

    Published 2018
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  5. 5
    Patterns of genic intolerance of rare copy number variation in 59,898 human exomes

    Patterns of genic intolerance of rare copy number variation in 59,898 human exomes by Ruderfer, Douglas M., Hamamsy, Tymor, Lek, Monkol, Karczewski, Konrad J., Kavanagh, David, Samocha, Kaitlin E., Daly, Mark J., MacArthur, Daniel G., Fromer, Menachem, Purcell, Shaun M.

    Published 2016
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  6. 6
    The ExAC browser: displaying reference data information from over 60 000 exomes

    The ExAC browser: displaying reference data information from over 60 000 exomes by Karczewski, Konrad J., Weisburd, Ben, Thomas, Brett, Solomonson, Matthew, Ruderfer, Douglas M., Kavanagh, David, Hamamsy, Tymor, Lek, Monkol, Samocha, Kaitlin E., Cummings, Beryl B., Birnbaum, Daniel, Daly, Mark J., MacArthur, Daniel G.

    Published 2017
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  7. 7
    A framework for the detection of de novo mutations in family-based sequencing data

    A framework for the detection of de novo mutations in family-based sequencing data by Francioli, Laurent C, Cretu-Stancu, Mircea, Garimella, Kiran V, Fromer, Menachem, Kloosterman, Wigard P, Samocha, Kaitlin E, Neale, Benjamin M, Daly, Mark J, Banks, Eric, DePristo, Mark A, de Bakker, Paul IW

    Published 2017
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  8. 8
    Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data

    Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data by Cassa, Christopher A., Weghorn, Donate, Balick, Daniel J., Jordan, Daniel M., Nusinow, David, Samocha, Kaitlin E., O’Donnell-Luria, Anne, MacArthur, Daniel G., Daly, Mark J., Beier, David R., Sunyaev, Shamil R.

    Published 2017
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  9. 9
    Reply to ‘Selective effects of heterozygous protein-truncating variants’

    Reply to ‘Selective effects of heterozygous protein-truncating variants’ by Cassa, Christopher A., Weghorn, Donate, Balick, Daniel J., Jordan, Daniel M., Nusinow, David, Samocha, Kaitlin E., O’Donnell-Luria, Anne, MacArthur, Daniel G., Daly, Mark J., Beier, David R., Sunyaev, Shamil R.

    Published 2019
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  10. 10
    The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

    The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity by Grimm, Dominik G., Azencott, Chloé‐Agathe, Aicheler, Fabian, Gieraths, Udo, MacArthur, Daniel G., Samocha, Kaitlin E., Cooper, David N., Stenson, Peter D., Daly, Mark J., Smoller, Jordan W., Duncan, Laramie E., Borgwardt, Karsten M.

    Published 2015
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  11. 11
    REPLICATION OF LONG BONE LENGTH QTL IN THE F(9) - F(10) LG,SM ADVANCED INTERCROSS

    REPLICATION OF LONG BONE LENGTH QTL IN THE F(9) - F(10) LG,SM ADVANCED INTERCROSS by Norgard, Elizabeth A., Jarvis, Joseph P., Roseman, Charles C., Maxwell, Taylor J., Kenney-Hunt, Jane P., Samocha, Kaitlin E., Pletscher, L. Susan, Wang, Bing, Fawcett, Gloria L., Leatherwood, Christopher J., Wolf, Jason B., Cheverud, James M.

    Published 2009
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  12. 12
    Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples

    Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples by Kosmicki, Jack A., Samocha, Kaitlin E., Howrigan, Daniel P., Sanders, Stephan J., Slowikowski, Kamil, Lek, Monkol, Karczewski, Konrad J., Cutler, David J., Devlin, Bernie, Roeder, Kathryn, Buxbaum, Joseph D., Neale, Benjamin M., MacArthur, Daniel G., Wall, Dennis P., Robinson, Elise B., Daly, Mark J.

    Published 2017
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  13. 13
    Contribution of retrotransposition to developmental disorders

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

    Published 2019
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  14. 14
    The contribution of X-linked coding variation to severe developmental disorders

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

    Published 2021
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  15. 15
    De Novo Coding Variants Are Strongly Associated with Tourette Disorder

    De Novo Coding Variants Are Strongly Associated with Tourette Disorder by Willsey, A. Jeremy, Fernandez, Thomas V., Yu, Dongmei, King, Robert A., Dietrich, Andrea, Xing, Jinchuan, Sanders, Stephan J., Mandell, Jeffrey D., Huang, Alden Y., Richer, Petra, Smith, Louw, Dong, Shan, Samocha, Kaitlin E., Neale, Benjamin M., Coppola, Giovanni, Mathews, Carol A., Tischfield, Jay A., Scharf, Jeremiah M., State, Matthew W., Heiman, Gary A.

    Published 2017
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  16. 16
    Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

    Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population by Robinson, Elise B., St. Pourcain, Beate, Anttila, Verneri, Kosmicki, Jack A., Bulik-Sullivan, Brendan, Grove, Jakob, Maller, Julian, Samocha, Kaitlin E., Sanders, Stephan J., Ripke, Stephan, Martin, Joanna, Hollegaard, Mads V., Werge, Thomas, Hougaard, David M., Neale, Benjamin M., Evans, David M., Skuse, David, Mortensen, Preben Bo, Børglum, Anders D., Ronald, Angelica, Smith, George Davey, Daly, Mark J.

    Published 2016
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  17. 17
    Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders

    Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders by Weiner, Daniel J., Wigdor, Emilie M., Ripke, Stephan, Walters, Raymond K., Kosmicki, Jack A., Grove, Jakob, Samocha, Kaitlin E., Goldstein, Jacqueline, Okbay, Aysu, Bybjerg-Grauholm, Jonas, Werge, Thomas, Hougaard, David M., Taylor, Jacob, Skuse, David, Devlin, Bernie, Anney, Richard, Sanders, Stephan J., Bishop, Somer, Mortensen, Preben Bo, Børglum, Anders D., Smith, George Davey, Daly, Mark J., Robinson, Elise B.

    Published 2017
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  18. 18
    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

    Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland by Wright, Caroline F., Campbell, Patrick, Eberhardt, Ruth Y., Aitken, Stuart, Perrett, Daniel, Brent, Simon, Danecek, Petr, Gardner, Eugene J., Chundru, V. Kartik, Lindsay, Sarah J., Andrews, Katrina, Hampstead, Juliet, Kaplanis, Joanna, Samocha, Kaitlin E., Middleton, Anna, Foreman, Julia, Hobson, Rachel J., Parker, Michael J., Martin, Hilary C., FitzPatrick, David R., Hurles, Matthew E., Firth, Helen V.

    Published 2023
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  19. 19
    Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations

    Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations by Howrigan, Daniel P., Rose, Samuel A., Samocha, Kaitlin E., Fromer, Menachem, Cerrato, Felecia, Chen, Wei J., Churchhouse, Claire, Chambert, Kimberly, Chandler, Sharon D., Daly, Mark J., Dumont, Ashley, Genovese, Giulio, Hwu, Hai-Gwo, Laird, Nan, Kosmicki, Jack A., Moran, Jennifer L., Roe, Cheryl, Singh, Tarjinder, Wang, Shi-Heng, Faraone, Stephen V., Glatt, Stephen J., McCarroll, Steven A., Tsuang, Ming, Neale, Benjamin M.

    Published 2020
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  20. 20
    A framework for the interpretation of de novo mutation in human disease

    A framework for the interpretation of de novo mutation in human disease by Samocha, Kaitlin E., Robinson, Elise B., Sanders, Stephan J., Stevens, Christine, Sabo, Aniko, McGrath, Lauren M., Kosmicki, Jack A., Rehnström, Karola, Mallick, Swapan, Kirby, Andrew, Wall, Dennis P., MacArthur, Daniel G., Gabriel, Stacey B., dePristo, Mark, Purcell, Shaun M., Palotie, Aarno, Boerwinkle, Eric, Buxbaum, Joseph D., Cook, Edwin H., Gibbs, Richard A., Schellenberg, Gerard D., Sutcliffe, James S., Devlin, Bernie, Roeder, Kathryn, Neale, Benjamin M., Daly, Mark J.

    Published 2014
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