Výsledky vyhledávání - Chiang, Colby

Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes Autor Scott, Alexandra J., Chiang, Colby, Hall, Ira M.

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LUMPY: a probabilistic framework for structural variant discovery Autor Layer, Ryan M, Chiang, Colby, Quinlan, Aaron R, Hall, Ira M

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Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs Autor Chen, Xiaoli, Shen, Yiping, Zhang, Feng, Chiang, Colby, Pillalamarri, Vamsee, Blumenthal, Ian, Talkowski, Michael, Wu, Bai-Lin, Gusella, James F.

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder Autor Bahl, Samira, Chiang, Colby, Beauchamp, Roberta L, Neale, Benjamin M, Daly, Mark J, Gusella, James F, Talkowski, Michael E, Ramesh, Vijaya

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svtools: population-scale analysis of structural variation Autor Larson, David E, Abel, Haley J, Chiang, Colby, Badve, Abhijit, Das, Indraniel, Eldred, James M, Layer, Ryan M, Hall, Ira M

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SpeedSeq: Ultra-fast personal genome analysis and interpretation Autor Chiang, Colby, Layer, Ryan M., Faust, Gregory G., Lindberg, Michael R., Rose, David B., Garrison, Erik P., Marth, Gabor T., Quinlan, Aaron R., Hall, Ira M.

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Identification of Drivers of Aneuploidy in Breast Tumors Autor Pfister, Katherine, Pipka, Justyna L., Chiang, Colby, Liu, Yunxian, Clark, Royden A., Keller, Ray, Skoglund, Paul, Guertin, Michael J., Hall, Ira M., Stukenberg, P. Todd

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The impact of structural variation on human gene expression Autor Chiang, Colby, Scott, Alexandra J., Davis, Joe R., Tsang, Emily K., Li, Xin, Kim, Yungil, Hadzic, Tarik, Damani, Farhan N., Ganel, Liron, Montgomery, Stephen B., Battle, Alexis, Conrad, Donald F., Hall, Ira M.

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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research Autor Talkowski, Michael E., Ernst, Carl, Heilbut, Adrian, Chiang, Colby, Hanscom, Carrie, Lindgren, Amelia, Kirby, Andrew, Liu, Shangtao, Muddukrishna, Bhavana, Ohsumi, Toshiro K., Shen, Yiping, Borowsky, Mark, Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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Potential molecular consequences of transgene integration: The R6/2 mouse example Autor Jacobsen, Jessie C., Erdin, Serkan, Chiang, Colby, Hanscom, Carrie, Handley, Renee R., Barker, Douglas D., Stortchevoi, Alex, Blumenthal, Ian, Reid, Suzanne J., Snell, Russell G., MacDonald, Marcy E., Morton, A. Jennifer, Ernst, Carl, Gusella, James F., Talkowski, Michael E.

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The impact of rare variation on gene expression across tissues Autor Li, Xin, Kim, Yungil, Tsang, Emily K., Davis, Joe R., Damani, Farhan N., Chiang, Colby, Hess, Gaelen T., Zappala, Zachary, Strober, Benjamin J., Scott, Alexandra J., Li, Amy, Ganna, Andrea, Bassik, Michael C., Merker, Jason D., Hall, Ira M., Battle, Alexis, Montgomery, Stephen B.

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate Autor Lindgren, Amelia M., Hoyos, Tatiana, Talkowski, Michael E., Hanscom, Carrie, Blumenthal, Ian, Chiang, Colby, Ernst, Carl, Pereira, Shahrin, Ordulu, Zehra, Clericuzio, Carol, Drautz, Joanne M., Rosenfeld, Jill A., Shaffer, Lisa G., Velsher, Lea, Pynn, Tania, Vermeesch, Joris, Harris, David J., Gusella, James F., Liao, Eric C., Morton, Cynthia C.

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Mapping and characterization of structural variation in 17,795 human genomes Autor Abel, Haley J., Larson, David E., Regier, Allison A., Chiang, Colby, Das, Indraniel, Kanchi, Krishna L., Layer, Ryan M., Neale, Benjamin M., Salerno, William J., Reeves, Catherine, Buyske, Steven, Matise, Tara C., Muzny, Donna M., Zody, Michael C., Lander, Eric S., Dutcher, Susan K., Stitziel, Nathan O., Hall, Ira M.

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Association of structural variation with cardiometabolic traits in Finns Autor Chen, Lei, Abel, Haley J., Das, Indraniel, Larson, David E., Ganel, Liron, Kanchi, Krishna L., Regier, Allison A., Young, Erica P., Kang, Chul Joo, Scott, Alexandra J., Chiang, Colby, Wang, Xinxin, Lu, Shuangjia, Christ, Ryan, Service, Susan K., Chiang, Charleston W.K., Havulinna, Aki S., Kuusisto, Johanna, Boehnke, Michael, Laakso, Markku, Palotie, Aarno, Ripatti, Samuli, Freimer, Nelson B., Locke, Adam E., Stitziel, Nathan O., Hall, Ira M.

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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration Autor Chiang, Colby, Jacobsen, Jessie C., Ernst, Carl, Hanscom, Carrie, Heilbut, Adrian, Blumenthal, Ian, Mills, Ryan E., Kirby, Andrew, Lindgren, Amelia M., Rudiger, Skye R., McLaughlan, Clive J., Bawden, C. Simon, Reid, Suzanne J., Faull, Richard L. M., Snell, Russell G., Hall, Ira M., Shen, Yiping, Ohsumi, Toshiro K., Borowsky, Mark L., Daly, Mark J., Lee, Charles, Morton, Cynthia C., MacDonald, Marcy E., Gusella, James F., Talkowski, Michael E.

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Highly penetrant alterations of a critical region including BDNF contribute to human psychopathology Autor Ernst, Carl, Marshall, Christian R., Shen, Yiping, Metcalfe, Kay, Rosenfeld, Jill, Hodge, Jennelle C., Torres, Alcy, Blumenthal, Ian, Chiang, Colby, Pillalamarri, Vamsee, Crapper, Liam, Diallo, Alpha B., Ruderfer, Douglas, Pereira, Shahrin, Sklar, Pamela, Purcell, Shaun, Wildin, Robert S., Spencer, Anne C., Quade, Bradley F., Harris, David J., Lemyre, Emanuelle, Wu, Bailin, Stavropoulos, Dimitri J., Geraghty, Michael T., Shaffer, Lisa G., Morton, Cynthia C, Scherer, Stephen W., Gusella, James F., Talkowski, Michael E.

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Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities Autor Talkowski, Michael E., Maussion, Gilles, Crapper, Liam, Rosenfeld, Jill A., Blumenthal, Ian, Hanscom, Carrie, Chiang, Colby, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Diallo, Alpha B., Lopez, Juan Pablo, Turecki, Gustavo, Chen, Elizabeth S., Gigek, Carolina, Harris, David J., Lip, Va, An, Yu, Biagioli, Marta, MacDonald, Marcy E., Lin, Michael, Haggarty, Stephen J., Sklar, Pamela, Purcell, Shaun, Kellis, Manolis, Schwartz, Stuart, Shaffer, Lisa G., Natowicz, Marvin R., Shen, Yiping, Morton, Cynthia C., Gusella, James F., Ernst, Carl

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Implication of LRRC4C and DPP6 in neurodevelopmental disorders Autor Maussion, Gilles, Cruceanu, Cristiana, Rosenfeld, Jill A., Bell, Scott C., Jollant, Fabrice, Szatkiewicz, Jin, Collins, Ryan L., Hanscom, Carrie, Kolobova, Ilaria, de Champfleur, Nicolas Menjot, Blumenthal, Ian, Chiang, Colby, Ota, Vanessa, Hultman, Christina, O’Dushlaine, Colm, McCarroll, Steve, Alda, Martin, Jacquemont, Sebastien, Ordulu, Zehra, Marshall, Christian R., Carter, Melissa T., Shaffer, Lisa G., Sklar, Pamela, Girirajan, Santhosh, Morton, Cynthia C., Gusella, James F., Turecki, Gustavo, Stavropoulos, D. J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl

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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries Autor Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia, Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David, Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.

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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder Autor Talkowski, Michael E., Mullegama, Sureni V., Rosenfeld, Jill A., van Bon, Bregje W.M., Shen, Yiping, Repnikova, Elena A., Gastier-Foster, Julie, Thrush, Devon Lamb, Kathiresan, Sekar, Ruderfer, Douglas M., Chiang, Colby, Hanscom, Carrie, Ernst, Carl, Lindgren, Amelia M., Morton, Cynthia C., An, Yu, Astbury, Caroline, Brueton, Louise A., Lichtenbelt, Klaske D., Ades, Lesley C., Fichera, Marco, Romano, Corrado, Innis, Jeffrey W., Williams, Charles A., Bartholomew, Dennis, Van Allen, Margot I., Parikh, Aditi, Zhang, Lilei, Wu, Bai-Lin, Pyatt, Robert E., Schwartz, Stuart, Shaffer, Lisa G., de Vries, Bert B.A., Gusella, James F., Elsea, Sarah H.

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