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Germline FFPE inherited cancer panel testing in deceased family members: implications for clinical management of unaffected relatives Bennett, Sarah; Alexander, Elizabeth; Fraser, Harry; Bowers, Naomi; Wallace, Andrew; Woodward, Emma R.; Lalloo, Fiona; Quinn, Anne Marie; Huang, Shuwen; Schlecht, Helene; Evans, D. Gareth 分享 收藏
Optimizing genomic prediction model given causal genes in a dairy cattle population Teng, Jinyan; Huang, Shuwen; Chen, Zitao; Gao, Ning; Ye, Shaopan; Diao, Shuqi; Ding, Xiangdong; Yuan, Xiaolong; Zhang, Hao; Li, Jiaqi; Zhang, Zhe 分享 收藏
Dynamic DNA methylation of ovaries during pubertal transition in gilts Yuan, Xiaolong; Ye, Shaopan; Chen, Zitao; Pan, Xiangchun; Huang, Shuwen; Li, Zhonghui; Zhong, Yuyi; Gao, Ning; Zhang, Hao; Li, Jiaqi; Zhang, Zhe 分享 收藏
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16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2 16 p11.2-p12.2重复综合征; 与16 p11.2的常变色变异不同的基因组状况 Barber, John C. K.; Hall, Victoria; Maloney, Viv K.; Huang, Shuwen; Roberts, Angharad M.; Brady, Angela F.; Foulds, Nicki; Bewes, Beverley; Volleth, Marianne; Liehr, Thomas; Mehnert, Karl; Bateman, Mark; White, Helen 分享 收藏
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities Kaminsky, Erin B.; Kaul, Vineith; Paschall, Justin; Church, Deanna M.; Bunke, Brian; Kunig, Dawn; Moreno-De-Luca, Daniel; Moreno-De-Luca, Andres; Mulle, Jennifer G.; Warren, Stephen T.; Richard, Gabriele; Compton, John G.; Fuller, Amy E.; Gliem, Troy J.; Huang, Shuwen; Collinson, Morag N.; Beal, Sarah J.; Ackley, Todd; Pickering, Diane L.; Golden, Denae M.; Aston, Emily; Whitby, Heidi; Shetty, Shashirekha; Rossi, Michael R.; Rudd, M. Katharine; South, Sarah T.; Brothman, Arthur R.; Sanger, Warren G.; Iyer, Ramaswamy K.; Crolla, John A.; Thorland, Erik C.; Aradhya, Swaroop; Ledbetter, David H.; Martin, Christa L. 分享 收藏
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia (vol 87, pg 618, 2010) Moreno-De-Luca, Daniel; Mulle, Jennifer G.; Kaminsky, Erin B.; Sanders, Stephan J.; Myers, Scott M.; Adam, Margaret P.; Pakula, Amy T.; Eisenhauer, Nancy J.; Uhas, Kim; Weik, LuAnn; Guy, Lisa; Care, Melanie E.; Morel, Chantal F.; Boni, Charlotte; Salbert, Bonnie Anne; Chandrareddy, Ashadeep; Demmer, Laurie A.; Chow, Eva W. C.; Surti, Urvashi; Aradhya, Swaroop; Pickering, Diane L.; Golden, Denae M.; Sanger, Warren G.; Aston, Emily; Brothman, Arthur R.; Gliem, Troy J.; Thorland, Erik C.; Ackley, Todd; Iyer, Ram; Huang, Shuwen; Barber, John C.; Crolla, John A.; Warren, Stephen T.; Martin, Christa L.; Ledbetter, David H. 分享 收藏
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia Moreno-De-Luca, Daniel; Mulle, Jennifer G.; Kaminsky, Erin B.; Sanders, Stephan J.; Myers, Scott M.; Adam, Margaret P.; Pakula, Amy T.; Eisenhauer, Nancy J.; Uhas, Kim; Weik, LuAnn; Guy, Lisa; Care, Melanie E.; Morel, Chantal F.; Boni, Charlotte; Salbert, Bonnie Anne; Chandrareddy, Ashadeep; Demmer, Laurie A.; Chow, Eva W. C.; Surti, Urvashi; Aradhya, Swaroop; Pickering, Diane L.; Golden, Denae M.; Sanger, Warren G.; Aston, Emily; Brothman, Arthur R.; Gliem, Troy J.; Thorland, Erik C.; Ackley, Todd; Iyer, Ram; Huang, Shuwen; Barber, John C.; Crolla, John A.; Warren, Stephen T.; Martin, Christa L.; Ledbetter, David H. 分享 收藏
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome van Bon, B. W. M.; Mefford, H. C.; Menten, B.; Koolen, D. A.; Sharp, A. J.; Nillesen, W. M.; Innis, J. W.; de Ravel, T. J. L.; Mercer, C. L.; Fichera, M.; Stewart, H.; Connell, L. E.; Ounap, K.; Lachlan, K.; Castle, B.; Van der Aa, N.; van Ravenswaaij, C.; Nobrega, M. A.; Serra-Juhe, C.; Simonic, I.; de Leeuw, N.; Pfundt, R.; Bongers, E. M.; Baker, C.; Finnemore, P.; Huang, S.; Maloney, V. K.; Crolla, J. A.; van Kalmthout, M.; Elia, M.; Vandeweyer, G.; Fryns, J. P.; Janssens, S.; Foulds, N.; Reitano, S.; Smith, K.; Parkel, S.; Loeys, B.; Woods, C. G.; Oostra, A.; Speleman, F.; Pereira, A. C.; Kurg, A.; Willatt, L.; Knight, S. J. L.; Vermeesch, J. R.; Romano, C.; Barber, J. C.; Mortier, G.; Perez-Jurado, L. A.; Kooy, F.; Brunner, H. G.; Eichler, E. E.; Kleefstra, T.; de Vries, B. B. A. 分享 收藏
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes Mefford, Heather C.; Sharp, Andrew J.; Baker, Carl; Itsara, Andy; Jiang, Zhaoshi; Buysse, Karen; Huang, Shuwen; Maloney, Viv K.; Crolla, John A.; Baralle, Diana; Collins, Amanda; Mercer, Catherine; Norga, Koen; de Ravel, Thomy; Devriendt, Koen; Bongers, Ernie M. H. F.; de Leeuw, Nicole; Reardon, William; Gimelli, Stefania; Bena, Frederique; Hennekam, Raoul C.; Male, Alison; Gaunt, Lorraine; Clayton-Smith, Jill; Simonic, Ingrid; Park, Soo Mi; Mehta, Sarju G.; Nik-Zainal, Serena; Woods, C. Geoffrey; Firth, Helen V.; Parkin, Georgina; Fichera, Marco; Reitano, Santina; Lo Giudice, Mariangela; Li, Kelly E.; Casuga, Iris; Broomer, Adam; Conrad, Bernard; Schwerzmann, Markus; Raber, Lorenz; Gallati, Sabina; Striano, Pasquale; Coppola, Antonietta; Tolmie, John L.; Tobias, Edward S.; Lilley, Chris; Armengol, Lluis; Spysschaert, Yves; Verloo, Patrick; De Coene, Anja; Goossens, Linde; Mortier, Geert; Speleman, Frank; van Binsbergen, Ellen; Nelen, Marcel R.; Hochstenbach, Ron; Poot, Martin; Gallagher, Louise; Gill, Michael; McClellan, Jon; King, Mary-Claire; Regan, Regina; Skinner, Cindy; Stevenson, Roger E.; Antonarakis, Stylianos E.; Chen, Caifu; Estivill, Xavier; Menten, Bjorn; Gimelli, Giorgio; Gribble, Susan; Schwartz, Stuart; Sutcliffe, James S.; Walsh, Tom; Knight, Samantha J. L.; Sebat, Jonathan; Romano, Corrado; Schwartz, Charles E.; Veltman, Joris A.; de Vries, Bert B. A.; Vermeesch, Joris R.; Barber, John C. K.; Willatt, Lionel; Tassabehji, May; Eichler, Evan E. 分享 收藏
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficulties Glancy, Mary; Barnicoat, Angela; Vijeratnam, Rajan; de Souza, Sharon; Gilmore, Joanne; Huang, Shuwen; Maloney, Viv K.; Thomas, N. Simon; Bunyan, David J.; Jackson, Ann; Barber, John C. K. 分享 收藏
Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development Wilson, Heather L.; Crolla, John A.; Walker, Dena; Artifoni, Lina; Dallapiccola, Bruno; Takano, Takako; Vasudevan, Pradeep; Huang, Shuwen; Maloney, Vivienne; Yobb, Twila; Quarrell, Oliver; McDermid, Heather E. 分享 收藏
SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development Kelberman, Daniel; de Castro, Sandra C. P.; Huang, Shuwen; Crolla, John A.; Palmer, Rodger; Gregory, John W.; Taylor, David; Cavallo, Luciano; Faienza, Maria F.; Fischetto, Rita; Achermann, John C.; Martinez-Barbera, Juan Pedro; Rizzoti, Karine; Lovell-Badge, Robin; Robinson, Iain C. A. F.; Gerrelli, Dianne; Dattani, Mehul T. 分享 收藏
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH Barber, John C. K.; Maloney, Viv K.; Huang, Shuwen; Bunyan, David J.; Cresswell, Lara; Kinning, Esther; Benson, Anna; Cheetham, Tim; Wyllie, Jonathan; Lynch, Sally Ann; Zwolinski, Simon; Prescott, Laura; Crow, Yanick; Morgan, Rob; Hobson, Emma 分享 收藏
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