Exome sequencing of Finnish isolates enhances rare-variant association power von Locke, Adam E., Steinberg, Karyn Meltz, Chiang, Charleston W. K., Service, Susan K., Havulinna, Aki S., Stell, Laurel, Pirinen, Matti, Abel, Haley J., Chiang, Colby C., Fulton, Robert S., Jackson, Anne U., Kang, Chul Joo, Kanchi, Krishna L., Koboldt, Daniel C., Larson, David E., Nelson, Joanne, Nicholas, Thomas J., Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J., Stringham, Heather M., Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G., Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K., Stitziel, Nathan O., Wilson, Richard K., Hall, Ira M., Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B.

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Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power von Locke, Adam E., Steinberg, Karyn Meltz, Chiang, Charleston W. K., Service, Susan K., Havulinna, Aki S., Stell, Laurel, Pirinen, Matti, Abel, Haley J., Chiang, Colby C., Fulton, Robert S., Jackson, Anne U., Kang, Chul Joo, Kanchi, Krishna L., Koboldt, Daniel C., Larson, David E., Nelson, Joanne, Nicholas, Thomas J., Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J., Stringham, Heather M., Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G., Ala-Korpela, Mika, Järvelin, Marjo-Riitta, Männikkö, Minna, Laivuori, Hannele, Dutcher, Susan K., Stitziel, Nathan O., Wilson, Richard K., Hall, Ira M., Sabatti, Chiara, Palotie, Aarno, Salomaa, Veikko, Laakso, Markku, Ripatti, Samuli, Boehnke, Michael, Freimer, Nelson B.

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Corrections & amendments von Locke, Adam E, Steinberg, Karyn Meltz, K Chiang, Charleston W, Service, Susan K, Havulinna, Aki S, Stell, Laurel, Pirinen, Matti, Abel, Haley J, Chiang, Colby C, Fulton, Robert S, Jackson, Anne U, Kang, Chul Joo, Kanchi, Krishna L, Koboldt, Daniel C, Larson, David E, Nelson, Joanne, Nicholas, Thomas J, Pietilä, Arto, Ramensky, Vasily, Ray, Debashree, Scott, Laura J, Stringham, Heather M, Vangipurapu, Jagadish, Welch, Ryan, Yajnik, Pranav, Yin, Xianyong, Eriksson, Johan G, Ala-Korpela, Mika, Järvelin, Marjo-Riitta

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Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration von 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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The impact of rare variation on gene expression across tissues von 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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Genetic effects on gene expression across human tissues von Battle, Alexis, Brown, Christopher D, Engelhardt, Barbara E, Montgomery, Stephen B

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Landscape of X chromosome inactivation across human tissues von Tukiainen, Taru, Villani, Alexandra-Chloé, Yen, Angela, Rivas, Manuel A., Marshall, Jamie L., Satija, Rahul, Aguirre, Matt, Gauthier, Laura, Fleharty, Mark, Kirby, Andrew, Cummings, Beryl B., Castel, Stephane E., Karczewski, Konrad J., Aguet, François, Byrnes, Andrea, Lappalainen, Tuuli, Regev, Aviv, Ardlie, Kristin G., Hacohen, Nir, MacArthur, Daniel G.

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Mapping and characterization of structural variation in 17,795 human genomes von 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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Dynamic landscape and regulation of RNA editing in mammals von Tan, Meng How, Li, Qin, Shanmugam, Raghuvaran, Piskol, Robert, Kohler, Jennefer, Young, Amy N., Liu, Kaiwen Ivy, Zhang, Rui, Ramaswami, Gokul, Ariyoshi, Kentaro, Gupte, Ankita, Keegan, Liam P., George, Cyril X., Ramu, Avinash, Huang, Ni, Pollina, Elizabeth A., Leeman, Dena S., Rustighi, Alessandra, Goh, Y. P. Sharon, Chawla, Ajay, Del Sal, Giannino, Peltz, Gary, Brunet, Anne, Conrad, Donald F., Samuel, Charles E., O’Connell, Mary A., Walkley, Carl R., Nishikura, Kazuko, Li, Jin Billy

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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 von 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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The genome of the vervet (Chlorocebus aethiops sabaeus) von Warren, Wesley C, Jasinska, Anna J, García-Pérez, Raquel, Svardal, Hannes, Tomlinson, Chad, Rocchi, Mariano, Archidiacono, Nicoletta, Capozzi, Oronzo, Minx, Patrick, Montague, Michael J, Kyung, Kim, Hillier, LaDeana W, Kremitzki, Milinn, Graves, Tina, Chiang, Colby, Hughes, Jennifer, Tran, Nam, Huang, Yu, Ramensky, Vasily, Choi, Oi-Wa, Jung, Yoon J, Schmitt, Christopher A, Juretic, Nikoleta, Wasserscheid, Jessica, Turner, Trudy R, Wiseman, Roger W, Tuscher, Jennifer J, Karl, Julie A, Schmitz, Jörn E, Zahn, Roland, O'Connor, David H, Redmond, Eugene, Nisbett, Alex, Jacquelin, Béatrice, Müller-Trutwin, Michaela C, Brenchley, Jason M, Dione, Michel, Antonio, Martin, Schroth, Gary P, Kaplan, Jay R, Jorgensen, Matthew J, Thomas, Gregg W C, Hahn, Matthew W, Raney, Brian J, Aken, Bronwen, Nag, Rishi, Schmitz, Juergen, Churakov, Gennady, Noll, Angela, Stanyon, Roscoe, Webb, David, Thibaud-Nissen, Francoise, Nordborg, Magnus, Marques-Bonet, Tomas, Dewar, Ken, Weinstock, George M, Wilson, Richard K, Freimer, Nelson B

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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus von Beunders, Gea, Voorhoeve, Els, Golzio, Christelle, Pardo, Luba M., Rosenfeld, Jill A., Talkowski, Michael E., Simonic, Ingrid, Lionel, Anath C., Vergult, Sarah, Pyatt, Robert E., van de Kamp, Jiddeke, Nieuwint, Aggie, Weiss, Marjan M., Rizzu, Patrizia, Verwer, Lucilla E.N.I., van Spaendonk, Rosalina M.L., Shen, Yiping, Wu, Bai-lin, Yu, Tingting, Yu, Yongguo, Chiang, Colby, Gusella, James F., Lindgren, Amelia M., Morton, Cynthia C., van Binsbergen, Ellen, Bulk, Saskia, van Rossem, Els, Vanakker, Olivier, Armstrong, Ruth, Park, Soo-Mi, Greenhalgh, Lynn, Maye, Una, Neill, Nicholas J., Abbott, Kristin M., Sell, Susan, Ladda, Roger, Farber, Darren M., Bader, Patricia I., Cushing, Tom, Drautz, Joanne M., Konczal, Laura, Nash, Patricia, de Los Reyes, Emily, Carter, Melissa T., Hopkins, Elizabeth, Marshall, Christian R., Osborne, Lucy R., Gripp, Karen W., Thrush, Devon Lamb, Hashimoto, Sayaka, Gastier-Foster, Julie M., Astbury, Caroline, Ylstra, Bauke, Meijers-Heijboer, Hanne, Posthuma, Danielle, Menten, Björn, Mortier, Geert, Scherer, Stephen W., Eichler, Evan E., Girirajan, Santhosh, Katsanis, Nicholas, Groffen, Alexander J., Sistermans, Erik A.

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Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries von Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., 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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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies von Brand, Harrison, Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C, Hanscom, Carrie, Pillalamarri, Vamsee, Alkuraya, Fowzan S, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Bernstein, Jonathan A, Blumenthal, Ian, Bongers, Ernie M H F, Brown, Chester W, Brüggenwirth, Hennie T, Callewaert, Bert, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B, Cushing, Tom, David, Dezso, Deardorff, Matthew A, Dheedene, Annelies, D'Hooghe, Marc, Earl, Dawn L, Ferguson, Heather L, FitzPatrick, David R, Gerrol, Pamela, Giachino, Daniela, Gliem, Troy, Griffis, Cristin, Gripp, Karen W, Gropman, Andrea L, Hanson-Kahn, Andrea, Harris, David J, Hill, Rosamund, Hoffman, Jodi D, Hopkin, Robert J, Hubshman, Monika W, Irons, Mira, Irving, Melita, Jacobsen, Jessie C, Janssens, Sandra, Jewett, Tamison, Johnson, John P, Koolen, David A, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V, Li, Hong, Liao, Eric C, Lose, Edward J, Lucente, Diane, Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L, Masser-Frye, Diane, McClellan, Michael W, Menten, Björn, Middelkamp, Sjors, Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E, Moya, Graciela, Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P, Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Aguilar, Raul E Piña, Poddighe, Pino J, Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Ruliera, Jayla, Schilit, Samantha L P, Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Tagoe, Julia, Thakuria, Joseph V, van de Kamp, Jiddeke, van Essen, Ton, van Ravenswaaij-Arts, Conny M, van Roosmalen, Markus J, Vergult, Sarah, Volker-Touw, Catharina M L, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A, Zori, Roberto T, Kloosterman, Wigard P, Morton, Cynthia C, Talkowski, Michael E

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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome von Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E

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Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research von 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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Implication of LRRC4C and DPP6 in neurodevelopmental disorders von 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, Dimitri J., Sullivan, Patrick F., Scherer, Stephen W., Talkowski, Michael E., Ernst, Carl

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate von 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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Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities von 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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Potential molecular consequences of transgene integration: The R6/2 mouse example von 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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