Hakutulokset - Samocha, Kaitlin

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