Allelic decomposition and exact genotyping of highly polymorphic and structurally variant genes von Numanagić, Ibrahim, Malikić, Salem, Ford, Michael, Qin, Xiang, Toji, Lorraine, Radovich, Milan, Skaar, Todd C., Pratt, Victoria M., Berger, Bonnie, Scherer, Steve, Sahinalp, S. Cenk

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Frequent Amplification of a chr19q13.41 MicroRNA Polycistron in Aggressive Primitive Neuroectodermal Brain Tumors von Li, Meihua, Lee, Kyle F., Lu, Yuntao, Clarke, Ian, Shih, David, Eberhart, Charles, Collins, V. Peter, Van Meter, Tim, Picard, Daniel, Zhou, Limei, Boutros, Paul C., Modena, Piergiorgio, Liang, Muh-Lii, Scherer, Steve W., Bouffet, Eric, Rutka, James T., Pomeroy, Scott L., Lau, Ching C., Taylor, Michael D., Gajjar, Amar, Dirks, Peter B., Hawkins, Cynthia E., Huang, Annie

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Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing von Shearer, A. Eliot, DeLuca, Adam P., Hildebrand, Michael S., Taylor, Kyle R., Gurrola, José, Scherer, Steve, Scheetz, Todd E., Smith, Richard J. H., King, Mary-Claire

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Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity von Maniakas, Anastasios, Henderson, Ying C., Hei, Hu, Peng, Shaohua, Chen, Yunyun, Jiang, Yujie, Ji, Shuangxi, Cardenas, Maria, Chiu, Yulun, Bell, Diana, Williams, Michelle D., Hofmann, Marie-Claude, Scherer, Steve E., Wheeler, David A., Busaidy, Naifa L., Dadu, Ramona, Wang, Jennifer R., Cabanillas, Maria E., Zafereo, Mark, Johnson, Faye M., Lai, Stephen Y.

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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes von Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B

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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway von Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina, Mena, Walter, Rhonda S., Bibb, Audrey, Jones, Melanie, Hegde, Madhuri, Graham, Brett H., Need, Anna C., Oviedo, Angelica, Schaaf, Christian P., Boyle, Sean, Butte, Atul J., Chen, Rong, Clark, Michael J., Haraksingh, Rajini, Cowan, Tina M., He, Ping, Langlois, Sylvie, Zoghbi, Huda Y., Snyder, Michael, Gibbs, Richard A., Freeze, Hudson H., Goldstein, David B.

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Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm von Chetaille, Philippe, Preuss, Christoph, Burkhard, Silja, Côté, Jean-Marc, Houde, Christine, Castilloux, Julie, Piché, Jessica, Gosset, Natacha, Leclerc, Séverine, Wünnemann, Florian, Thibeault, Maryse, Gagnon, Carmen, Galli, Antonella, Tuck, Elizabeth, Hickson, Gilles R, Amine, Nour El, Boufaied, Ines, Lemyre, Emmanuelle, de Santa Barbara, Pascal, Faure, Sandrine, Jonzon, Anders, Cameron, Michel, Dietz, Harry C, Gallo-McFarlane, Elena, Benson, D Woodrow, Moreau, Claudia, Labuda, Damian, Zhan, Shing H, Shen, Yaoqing, Jomphe, Michèle, Jones, Steven J M, Bakkers, Jeroen, Andelfinger, Gregor

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A homeobox gene, HLXB9 , is the major locus for dominantly inherited sacral agenesis von Strachan, Tom, Ross, Alison J, Ruiz-Perez, Victor, Wang, Yiming, Hagan, Donna-Marie, Scherer, Steve, Lynch, Sally A, Lindsay, Susan, Custard, Emily, Belloni, Elena, Wilson, David I, Wadey, Roy, Goodman, Frances, Orstavik, Karen Helene, Monclair, Tom, Robson, Steve, Reardon, William, Burn, John, Scambler, Pete

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Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome von Bernier, Francois P., Caluseriu, Oana, Ng, Sarah, Schwartzentruber, Jeremy, Buckingham, Kati J., Innes, A. Micheil, Jabs, Ethylin Wang, Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, Gregor, Siu, Victoria, Lauzon, Julie, Fernandez, Bridget A., McMillin, Margaret, Scott, Richard H., Racher, Hilary, Majewski, Jacek, Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Parboosingh, Jillian S.

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A novel recurrent mutation in ATP1A3 causes CAPOS syndrome von Demos, Michelle K, van Karnebeek, Clara Dm, Ross, Colin Jd, Adam, Shelin, Shen, Yaoqing, Zhan, Shing Hei, Shyr, Casper, Horvath, Gabriella, Suri, Mohnish, Fryer, Alan, Jones, Steven Jm, Friedman, Jan M

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An efficient genotyper and star-allele caller for pharmacogenomics von Hari, Ananth, Zhou, Qinghui, Gonzaludo, Nina, Harting, John, Scott, Stuart A, Qin, Xiang, Scherer, Steve, Sahinalp, S Cenk, Numanagić, Ibrahim

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An efficient genotyper and star-allele caller for pharmacogenomics von Hari, Ananth, Zhou, Qinghui, Gonzaludo, Nina, Harting, John, Scott, Stuart A, Qin, Xiang, Scherer, Steve, Sahinalp, S Cenk, Numanagić, Ibrahim

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Mutation in The Nuclear-Encoded Mitochondrial Isoleucyl-tRNA Synthetase IARS2 in Patients with Cataracts, Growth Hormone Deficiency with Short Stature, Partial Sensorineural Deafne... von Schwartzentruber, Jeremy, Buhas, Daniela, Majewski, Jacek, Sasarman, Florin, Papillon-Cavanagh, Simon, Thiffaut, Isabelle, Sheldon, Katherine M., Massicotte, Christine, Patry, Lysanne, Simon, Mariella, Zare, Amir S., McKernan, Kevin J., Michaud, Jacques, Boles, Richard G., Deal, Cheri L., Desilets, Valerie, Shoubridge, Eric A., Samuels, Mark E.

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PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation von Gordon, Adam S, Fulton, Robert S, Qin, Xiang, Mardis, Elaine R, Nickerson, Deborah A, Scherer, Steve

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Comprehensive genomic characterization defines human glioblastoma genes and core pathways von McLendon, Roger, Friedman, Allan, Bigner, Darrell, Brat, Daniel J, M Mastrogianakis, Gena, Lehman, Norman, Aldape, Ken, Bogler, Oliver, Nazareth, Lynn, Hall, Otis, Zhu, Yiming, Jhangiani, Shalini, San Lucas, Anthony, Kovar, Christie, Dinh, Huyen, Santibanez, Jireh, Joshi, Vandita, Wilkinson, Jane, Onofrio, Robert, Ardlie, Kristin, Gabriel, Stacey, Ding, Li, McLellan, Michael D, Shi, Xiaoqi, Abbott, Rachel, Fulton, Lucinda, Meyer, Rick, Osborne, John R, Dunford-Shore, Brian H, Delehaunty, Kim, Swift, Gary, Pohl, Craig, Leong, Shin, Haipek, Carrie, Schmidt, Heather, Vickery, Tammi, Chinwalla, Asif, Weinstock, George M, Mardis, Elaine R, Verhaak, Roel GW, O'Kelly, Michael, Beroukhim, Rameen, Carter, Scott, Chiang, Derek, Gould, Josh, Korn, Josh, Mermel, Craig, Monti, Stefano, Nguyen, Huy, Parkin, Melissa, Stransky, Nicolas, Meyerson, Matthew, Protopopov, Alexei, Zhang, Jianhua, Perna, Ilana, Yao, Jun, Kim, Hyunsoo, Kohane, Isaac S, Seidman, Jon, Kucherlapati, Raju, Laird, Peter W, Cope, Leslie, Herman, James G, Weisenberger, Daniel J, Mi Yi, Joo, Southwick, Audrey, Aggarwal, Amita, Brooks, James D, Spellman, Paul T, Marr, Henry, Gi Choi, Yoon, Wang, Victoria, Robinson, Mark, Peng, Vivian, Fontenay, Gerald V, Parvin, Bahram, Speed, Terence P, Gray, Joe W, Brennan, Cameron, Olshen, Adam, Schultz, Nikolaus, Stukalov, Alexey, Cerami, Ethan, Qin, Li-Xuan, Ladanyi, Marc, Neil Hayes, D, Topal, Michael D, Shi, Yan, Penny, Robert, Lenkiewicz, Elizabeth, Morris, Scott, Kahn, Ari, Chen, Jessica, Nassau, David, Hickey, Erin, Vockley, Joseph, Vaught, Jim, Madhavan, Subhashree, Guyer, Mark, Thomson, Elizabeth

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Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders von Al-Maawali, Almundher, Dupuis, Lucie, Blaser, Susan, Heon, Elise, Tarnopolsky, Mark, Al-Murshedi, Fathiya, Marshall, Christian R, Paton, Tara, Scherer, Stephen W, Roelofsen, Jeroen, van Kuilenburg, André B P, Mendoza-Londono, Roberto

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MYH11 mutations result in a distinct vascular pathology driven by insulin-like growth factor 1 and angiotensin II von Pannu, Hariyadarshi, Tran-Fadulu, Van, Papke, Christina L., Scherer, Steve, Liu, Yaozhong, Presley, Caroline, Guo, Dongchuan, Estrera, Anthony L., Safi, Hazim J., Brasier, Allan R., Vick, G. Wesley, Marian, A.J., Raman, C.S., Buja, L. Maximilian, Milewicz, Dianna M.

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Abstract 1662: In vivo drug response evaluation in anaplastic thyroid cancer patient-derived tumor xenografts following high-throughput screening von Maniakas, Anastasios, Mohamed, Abdallah S., Henderson, Ying C., Hei, Hu, Peng, Shaohua, Bell, Diana, Williams, Michelle D., Scherer, Steve, Wheeler, David A., Clayman, Gary L., Zafereo, Mark, Wang, Jennifer R., Cabanillas, Maria E., Stephan, Clifford, Johnson, Faye M., Lai, Stephen Y.

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Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy von Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsattari, Seyed M, Rupar, C Anthony, Siu, Victoria M, Poulter, Michael O, Hegele, Robert A, Kramer, Jamie M

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The genomic and evolutionary landscapes of anaplastic thyroid carcinoma von Zeng, Peter Y.F., Prokopec, Stephenie D., Lai, Stephen Y., Pinto, Nicole, Chan-Seng-Yue, Michelle A., Clifton-Bligh, Roderick, Williams, Michelle D., Howlett, Christopher J., Plantinga, Paul, Cecchini, Matthew J., Lam, Alfred K., Siddiqui, Iram, Wang, Jianxin, Sun, Ren X., Watson, John D., Korah, Reju, Carling, Tobias, Agrawal, Nishant, Cipriani, Nicole, Ball, Douglas, Nelkin, Barry, Rooper, Lisa M., Bishop, Justin A., Garnis, Cathie, Berean, Ken, Nicolson, Norman G., Weinberger, Paul, Henderson, Ying C., Lalansingh, Christopher M., Tian, Mao, Yamaguchi, Takafumi N., Livingstone, Julie, Salcedo, Adriana, Patel, Krupal, Vizeacoumar, Frederick, Datti, Alessandro, Xi, Liu, Nikiforov, Yuri E., Smallridge, Robert, Copland, John A., Marlow, Laura A., Hyrcza, Martin D., Delbridge, Leigh, Sidhu, Stan, Sywak, Mark, Robinson, Bruce, Fung, Kevin, Ghasemi, Farhad, Kwan, Keith, MacNeil, S. Danielle, Mendez, Adrian, Palma, David A., Khan, Mohammed I., Shaikh, Mushfiq, Ruicci, Kara M., Wehrli, Bret, Winquist, Eric, Yoo, John, Mymryk, Joe S., Rocco, James W., Wheeler, David, Scherer, Steve, Giordano, Thomas J., Barrett, John W., Faquin, William C., Gill, Anthony J., Clayman, Gary, Boutros, Paul C., Nichols, Anthony C.

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