Rezultaty - Lowther, Chelsea

Reproductive Genetic Testing and Human Genetic Variation in the Era of Genomic Medicine od Lowther, Chelsea, Costain, Gregory, Bassett, Anne S.

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Adult expression of a 3q13.31 microdeletion od Lowther, Chelsea, Costain, Gregory, Melvin, Rebecca, Stavropoulos, Dimitri J, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S

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Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature od Lowther, Chelsea, Costain, Gregory, Stavropoulos, Dimitri J., Melvin, Rebecca, Silversides, Candice K., Andrade, Danielle M., So, Joyce, Faghfoury, Hanna, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.

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Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia od Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Waserman, Jack, Boyd, Kerry, Noor, Abdul, Speevak, Marsha, Stavropoulos, Dimitri J., Wei, John, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.

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Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays od Costain, Gregory, Lionel, Anath C., Merico, Daniele, Forsythe, Pamela, Russell, Kathryn, Lowther, Chelsea, Yuen, Tracy, Husted, Janice, Stavropoulos, Dimitri J., Speevak, Marsha, Chow, Eva W.C., Marshall, Christian R., Scherer, Stephen W., Bassett, Anne S.

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De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients od Mak, Christopher C Y, Chow, Pak Cheong, Liu, Anthony P Y, Chan, Kelvin Y K, Chu, Yoyo W Y, Mok, Gary T K, Leung, Gordon K C, Yeung, Kit San, Chau, Adolphus K T, Lowther, Chelsea, Scherer, Stephen W, Marshall, Christian R, Bassett, Anne S, Chung, Brian H Y

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Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot od Reuter, Miriam S., Jobling, Rebekah, Chaturvedi, Rajiv R., Manshaei, Roozbeh, Costain, Gregory, Heung, Tracy, Curtis, Meredith, Hosseini, S. Mohsen, Liston, Eriskay, Lowther, Chelsea, Oechslin, Erwin, Sticht, Heinrich, Thiruvahindrapuram, Bhooma, Mil, Spencer van, Wald, Rachel M., Walker, Susan, Marshall, Christian R., Silversides, Candice K., Scherer, Stephen W., Kim, Raymond H., Bassett, Anne S.

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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies od Zhao, Xuefang, Collins, Ryan L., Lee, Wan-Ping, Weber, Alexandra M., Jun, Yukyung, Zhu, Qihui, Weisburd, Ben, Huang, Yongqing, Audano, Peter A., Wang, Harold, Walker, Mark, Lowther, Chelsea, Fu, Jack, Gerstein, Mark B., Devine, Scott E., Marschall, Tobias, Korbel, Jan O., Eichler, Evan E., Chaisson, Mark J.P., Lee, Charles, Mills, Ryan E., Brand, Harrison, Talkowski, Michael E.

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Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes od Halgren, Christina, Nielsen, Nete M., Nazaryan-Petersen, Lusine, Silahtaroglu, Asli, Collins, Ryan L., Lowther, Chelsea, Kjaergaard, Susanne, Frisch, Morten, Kirchhoff, Maria, Brøndum-Nielsen, Karen, Lind-Thomsen, Allan, Mang, Yuan, El-Schich, Zahra, Boring, Claire A., Mehrjouy, Mana M., Jensen, Peter K.A., Fagerberg, Christina, Krogh, Lotte N., Hansen, Jan, Bryndorf, Thue, Hansen, Claus, Talkowski, Michael E., Bak, Mads, Tommerup, Niels, Bache, Iben

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Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression od Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.

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Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders od Isles, Anthony R., Ingason, Andrés, Lowther, Chelsea, Walters, James, Gawlick, Micha, Stöber, Gerald, Rees, Elliott, Martin, Joanna, Little, Rosie B., Potter, Harry, Georgieva, Lyudmila, Pizzo, Lucilla, Ozaki, Norio, Aleksic, Branko, Kushima, Itaru, Ikeda, Masashi, Iwata, Nakao, Levinson, Douglas F., Gejman, Pablo V., Shi, Jianxin, Sanders, Alan R., Duan, Jubao, Willis, Joseph, Sisodiya, Sanjay, Costain, Gregory, Werge, Thomas M., Degenhardt, Franziska, Giegling, Ina, Rujescu, Dan, Hreidarsson, Stefan J., Saemundsen, Evald, Ahn, Joo Wook, Ogilvie, Caroline, Girirajan, Santhosh D., Stefansson, Hreinn, Stefansson, Kari, O’Donovan, Michael C., Owen, Michael J., Bassett, Anne, Kirov, George

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Rare genome-wide copy number variation and expression of schizophrenia in 22q11.2 deletion syndrome od Bassett, Anne S., Lowther, Chelsea, Merico, Daniele, Costain, Gregory, Chow, Eva W. C., van Amelsvoort, Therese, McDonald-McGinn, Donna, Gur, Raquel E., Swillen, Ann, Van den Bree, Marianne, Murphy, Kieran, Gothelf, Doron, Bearden, Carrie E., Eliez, Stephan, Kates, Wendy, Philip, Nicole, Sashi, Vandana, Campbell, Linda, Vorstman, Jacob, Cubells, Joseph, Repetto, Gabriela M., Simon, Tony, Boot, Erik, Heung, Tracy, Evers, Rens, Vingerhoets, Claudia, van Duin, Esther, Zakai, Elaine, Vergaelen, Elfi, Devriendt, Koen, Vermeesch, Joris R., Owen, Michael, Murphy, Clodagh, Michaelovosky, Elena, Kushan, Leila, Schneider, Maude, Fremont, Wanda, Busa, Tiffany, Hooper, Stephen, McCabe, Kathryn, Duijff, Sasja, Isaev, Karin, Pellecchia, Giovanna, Wei, John, Gazzellone, Matthew J., Scherer, Stephen W., Emanuel, Beverly S., Guo, Tingwei, Morrow, Bernice E., Marshall, Christian R.

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A structural variation reference for medical and population genetics od Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.

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Author Correction: A structural variation reference for medical and population genetics od Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.

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Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion od Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S., Heung, Tracy, Holleman, Aaron M., Johnston, H. Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M., Gur, Raquel E., Morrow, Bernice E., Swillen, Ann, Vorstman, Jacob A.S., Bearden, Carrie E., Chow, Eva W. C., van den Bree, Marianne, Emanuel, Beverly S., Vermeesch, Joris R., Warren, Stephen T., Owen, Michael J., Chopra, Pankaj, Cutler, David J., Duncan, Richard, Kotlar, Alex V., Mulle, Jennifer G., Voss, Anna J., Zwick, Michael E., Diacou, Alexander, Golden, Aaron, Guo, Tingwei, Lin, Jhih-Rong, Wang, Tao, Zhang, Zhengdong, Zhao, Yingjie, Marshall, Christian, Merico, Daniele, Jin, Andrea, Lilley, Brenna, Salmons, Harold I., Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James T.R., Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J., Costain, Gregory A., Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese A.M.J, van Duin, Esther, Vingerhoets, Claudia, Breckpot, Jeroen, Devriendt, Koen, Vergaelen, Elfi, Vogels, Annick, Crowley, T. Blaine, McGinn, Daniel E., Moss, Edward M., Sharkus, Robert J., Unolt, Marta, Zackai, Elaine H., Calkins, Monica E., Gallagher, Robert S., Gur, Ruben C., Tang, Sunny X., Fritsch, Rosemarie, Ornstein, Claudia, Repetto, Gabriela M., Breetvelt, Elemi, Duijff, Sasja N., Fiksinski, Ania, Moss, Hayley, Niarchou, Maria, Murphy, Kieran C., Prasad, Sarah E., Daly, Eileen M., Gudbrandsen, Maria, Murphy, Clodagh M., Murphy, Declan G., Buzzanca, Antonio, Di Fabio, Fabio, Digilio, Maria C., Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F., Ousley, Opal Y., Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, Schneider, Maude, Béna, Frédérique Sloan, Antshel, Kevin M., Fremont, Wanda, Kates, Wendy R., Belzeaux, Raoul, Busa, Tiffany, Philip, Nicole, Campbell, Linda E., McCabe, Kathryn L., Hooper, Stephen R., Schoch, Kelly, Shashi, Vandana, Simon, Tony J., Tassone, Flora, Arango, Celso, Fraguas, David, García-Miñaúr, Sixto, Morey-Canyelles, Jaume, Rosell, Jordi, Suñer, Damià H., Raventos-Simic, Jasna, Epstein, Michael P., Williams, Nigel M., Bassett, Anne S.

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