Adult expression of a 3q13.31 microdeletion

por Lowther, Chelsea, Costain, Gregory, Melvin, Rebecca, Stavropoulos, Dimitri J, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S
Publicado 2014

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

por 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.
Publicado 2017

De novo large rare copy-number variations contribute to conotruncal heart disease in Chinese patients

por 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
Publicado 2016

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

por 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.
Publicado 2018

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

por 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.
Publicado 2016

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders

por 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
Publicado 2016

A structural variation reference for medical and population genetics

por 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.
Publicado 2020

Author Correction: A structural variation reference for medical and population genetics

por 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.
Publicado 2021

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

por 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.
Publicado 2020