Результаты поиска - Samocha, Kaitlin

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

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

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

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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects по Zou, James, Valiant, Gregory, Valiant, Paul, Karczewski, Konrad, Chan, Siu On, Samocha, Kaitlin, Lek, Monkol, Sunyaev, Shamil, Daly, Mark, MacArthur, Daniel G.

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Searching for missing heritability: Designing rare variant association studies по Zuk, Or, Schaffner, Stephen F., Samocha, Kaitlin, Do, Ron, Hechter, Eliana, Kathiresan, Sekar, Daly, Mark J., Neale, Benjamin M., Sunyaev, Shamil R., Lander, Eric S.

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

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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes по 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.

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Genetic effect of chemotherapy exposure in children of testicular cancer survivors по Kryukov, Gregory V., Bielski, Craig M., Samocha, Kaitlin, Fromer, Menachem, Seepo, Sara, Gentry, Carleen, Neale, Benjamin, Garraway, Levi A., Sweeney, Christopher, Taplin, Mary-Ellen, Van Allen, Eliezer M.

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The ExAC browser: displaying reference data information from over 60 000 exomes по 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.

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A framework for the detection of de novo mutations in family-based sequencing data по 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

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Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data по 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.

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Reply to ‘Selective effects of heterozygous protein-truncating variants’ по 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.

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

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

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

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Contribution of retrotransposition to developmental disorders по 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.

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The contribution of X-linked coding variation to severe developmental disorders по 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.

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De Novo Coding Variants Are Strongly Associated with Tourette Disorder по 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.

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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population по 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.

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

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