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Association of structural variation with cardiometabolic traits in Finns 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. 分享 收藏
The impact of structural variation on human gene expression 结构变异对人类基因表达的影响 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. 分享 收藏
Potential molecular consequences of transgene integration: The R6/2 mouse example 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. 分享 收藏
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome 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; Curra, 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; Ana, 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, Main; 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; Garcia-Ortiz, Jose E.; Pineda Buitrago, Tatiana; Perez Silva, Orlando; Hoffman, Jodi D.; Muehlbauer, Wolfgang; Ruprecht, Klaus W.; Loeys, Bart L.; Shino, Masato; Kaind, 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., Jr.; Lin, Angela E.; Katsanis, Nicholas; Jones, Peter L.; Crowley, William F., Jr.; Davis, Erica E.; FitzPatrick, David R.; Talkowski, Michael E. 分享 收藏
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M. H. F.; Brilstra, Eva H.; Brown, Chester W.; Bruggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B. A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Mendoza, Cinthya J. Zepeda; Menten, Bjorn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Pina Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L. P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M. L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E. 分享 收藏
The genome of the vervet (Chlorocebus aethiops sabaeus) Warren, Wesley C.; Jasinska, Anna J.; Garcia-Perez, Raquel; Svarda, 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.; Kar, Julie A.; Schmitz, Joern E.; Zahn, Roland; O'Connor, David H.; Redmond, Eugene; Nisbett, Alex; Jacquelin, Beatrice; Mueller-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. 分享 收藏
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Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus 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, Bjoern; Mortier, Geert; Scherer, Stephen W.; Eichler, Evan E.; Girirajan, Santhosh; Katsanis, Nicholas; Groffen, Alexander J.; Sistermans, Erik A. 分享 收藏
Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate 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. 分享 收藏
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities 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 分享 收藏
Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder Talkowski, Michael E.; Mullegama, Sureni V.; Rosenfeld, Jill A.; van Bon, 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. 分享 收藏
Next-Generation Sequencing Strategies Enable Routine Detection of Balanced Chromosome Rearrangements for Clinical Diagnostics and Genetic Research 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. 分享 收藏
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