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GIRK2 splice variants and neuronal G protein-gated K+ channels: implications for channel function and behavior de Velasco, Ezequiel Marron Fernandez; Zhang, Lei; Vo, Baovi N.; Tipps, Megan; Farris, Shannon; Xia, Zhilian; Anderson, Allison; Carlblom, Nicholas; Weaver, C. David; Dudek, Serena M.; Wickman, Kevin 分享 收藏
G Protein-Gated K+ Channel Ablation in Forebrain Pyramidal Neurons Selectively Impairs Fear Learning Victoria, Nicole C.; de Velasco, Ezequiel Marron Fernandez; Ostrovskaya, Olga; Metzger, Stefania; Xia, Zhilian; Kotecki, Lydia; Benneyworth, Michael A.; Zink, Anastasia N.; Martemyanov, Kirill A.; Wickman, Kevin 分享 收藏
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Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy Campbell, Ian M.; Rao, Mitchell; Arredondo, Sean D.; Lalani, Seema R.; Xia, Zhilian; Kang, Sung-Hae L.; Bi, Weimin; Breman, Amy M.; Smith, Janice L.; Bacino, Carlos A.; Beaudet, Arthur L.; Patel, Ankita; Cheung, Sau Wai; Lupski, James R.; Stankiewicz, Pawel; Ramocki, Melissa B.; Shaw, Chad A. 分享 收藏
Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats Stankiewicz, Pawel; Kulkarni, Shashikant; Dharmadhikari, Avinash V.; Sampath, Srirangan; Bhatt, Samarth S.; Shaikh, Tamim H.; Xia, Zhilian; Pursley, Amber N.; Cooper, M. Lance; Shinawi, Marwan; Paciorkowski, Alex R.; Grange, Dorothy K.; Noetzel, Michael J.; Saunders, Scott; Simons, Paul; Summar, Marshall; Lee, Brendan; Scaglia, Fernando; Fellmann, Florence; Martinet, Danielle; Beckmann, Jacques S.; Asamoah, Alexander; Platky, Kathryn; Sparks, Susan; Martin, Ann S.; Madan-Khetarpal, Suneeta; Hoover, Jacqueline; Medne, Livija; Bonnemann, Carsten G.; Moeschler, John B.; Vallee, Stephanie E.; Parikh, Sumit; Irwin, Polly; Dalzell, Victoria P.; Smith, Wendy E.; Banks, Valerie C.; Flannery, David B.; Lovell, Carolyn M.; Bellus, Gary A.; Golden-Grant, Kathryn; Gorski, Jerome L.; Kussmann, Jennifer L.; McGregor, Tracy L.; Hamid, Rizwan; Pfotenhauer, Jean; Ballif, Blake C.; Shaw, Chad A.; Kang, Sung-Hae L.; Bacino, Carlos A.; Patel, Ankita; Rosenfeld, Jill A.; Cheung, Sau Wai; Shaffer, Lisa G. 分享 收藏
Genomewide MicroRNA Down-Regulation as a Negative Feedback Mechanism in the Early Phases of Liver Regeneration Shu, Jingmin; Kren, Betsy T.; Xia, Zhilian; Wong, Phillip Y. -P.; Li, Lihua; Hanse, Eric A.; Min, Michael X.; Li, Bingshan; Albrecht, Jeffrey H.; Zeng, Yan; Subramanian, Subbaya; Steer, Clifford J. 分享 收藏
Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes Ou, Zhishuo; Stankiewicz, Pawel; Xia, Zhilian; Breman, Amy M.; Dawson, Brian; Wiszniewska, Joanna; Szafranski, Przemyslaw; Cooper, M. Lance; Rao, Mitchell; Shao, Lina; South, Sarah T.; Coleman, Karlene; Fernhoff, Paul M.; Deray, Marcel J.; Rosengren, Sally; Roeder, Elizabeth R.; Enciso, Victoria B.; Chinault, A. Craig; Patel, Ankita; Kang, Sung-Hae L.; Shaw, Chad A.; Lupski, James R.; Cheung, Sau W. 分享 收藏
Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems Ramocki, Melissa B.; Bartnik, Magdalena; Szafranski, Przemyslaw; Kolodziejska, Katarzyna E.; Xia, Zhilian; Bravo, Jaclyn; Miller, G. Steve; Rodriguez, Diana L.; Williams, Charles A.; Bader, Patricia I.; Szczepanik, Elzbieta; Mazurczak, Tomasz; Antczak-Marach, Dorota; Coldwell, James G.; Akman, Cigdem I.; McAlmon, Karen; Cohen, Melinda P.; McGrath, James; Roeder, Elizabeth; Mueller, Jennifer; Kang, Sung-Hae L.; Bacino, Carlos A.; Patel, Ankita; Bocian, Ewa; Shaw, Chad A.; Cheung, Sau Wai; Mazurczak, Tadeusz; Stankiewicz, Pawel 分享 收藏
Detection of Clinically Relevant Exonic Copy-Number Changes by Array CGH Boone, Philip M.; Bacino, Carlos A.; Shaw, Chad A.; Eng, Patricia A.; Hixson, Patricia M.; Pursley, Amber N.; Kang, Sung-Hae L.; Yang, Yaping; Wiszniewska, Joanna; Nowakowska, Beata A.; del Gaudio, Daniela; Xia, Zhilian; Simpson-Patel, Gayle; Immken, LaDonna L.; Gibson, James B.; Tsai, Anne C. -H.; Bowers, Jennifer A.; Reimschisel, Tyler E.; Schaaf, Christian P.; Potocki, Lorraine; Scaglia, Fernando; Gambin, Tomasz; Sykulski, Maciej; Bartnik, Magdalena; Derwinska, Katarzyna; Wisniowiecka-Kowalnik, Barbara; Lalani, Seema R.; Probst, Frank J.; Bi, Weimin; Beaudet, Arthur L.; Patel, Ankita; Lupski, James R.; Cheung, Sau Wai; Stankiewicz, Pawel 分享 收藏
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment Brunetti-Pierri, Nicola; Paciorkowski, Alex R.; Ciccone, Roberto; Della Mina, Erika; Bonaglia, Maria Clara; Borgatti, Renato; Schaaf, Christian P.; Sutton, V. Reid; Xia, Zhilian; Jelluma, Naftha; Ruivenkamp, Claudia; Bertrand, Mary; de Ravel, Thomy J. L.; Jayakar, Parul; Belli, Serena; Rocchetti, Katia; Pantaleoni, Chiara; D'Arrigo, Stefano; Hughes, Jeff; Cheung, Sau Wai; Zuffardi, Orsetta; Stankiewicz, Pawel 分享 收藏
Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological? Szafranski, Przemyslaw; Schaaf, Christian P.; Person, Richard E.; Gibson, Ian B.; Xia, Zhilian; Mahadevan, Sangeetha; Wiszniewska, Joanna; Bacino, Carlos A.; Lalani, Seema; Potocki, Lorraine; Kang, Sung-Hae; Patel, Ankita; Cheung, Sau Wai; Probst, Frank J.; Graham, Brett H.; Shinawi, Marwan; Beaudet, Arthur L.; Stankiewicz, Pawel 分享 收藏
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes Shinawi, Marwan; Schaaf, Christian P.; Bhatt, Samarth S.; Xia, Zhilian; Patel, Ankita; Cheung, Sau Wai; Lanpher, Brendan; Nagl, Sandra; Herding, Heinrich Stephan; Nevinny-Stickel, Claudia; Immken, LaDonna L.; Patel, Gayle Simpson; German, Jennifer Ruth; Beaudet, Arthur L.; Stankiewicz, Pawel 分享 收藏
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations (vol 84, pg 780, 2009) Stankiewicz, Pawel; Sen, Partha; Bhatt, Samarth S.; Storer, Mekayla; Xia, Zhilian; Bejjani, Bassem A.; Ou, Zhishuo; Wiszniewska, Joanna; Driscoll, Daniel J.; Maisenbacher, Melissa K.; Bolivar, Juan; Bauer, Mislen; Zackai, Elaine H.; McDonald-McGinn, Donna; Nowaczyk, Malgorzata M. J.; Murray, Mitzi; Hustead, Virginia; Mascotti, Kristin; Schultz, Regina; Hallam, Lavinia; McRae, Duncan; Nicholson, Andrew G.; Newbury, Robert; Durham-O'Donnell, Jane; Knight, Gail; Kini, Usha; Shaikh, Tamim H.; Martin, Vicki; Tyreman, Matthew; Simonic, Ingrid; Willatt, Lionel; Paterson, Joan; Mehta, Sarju; Jones, Christy W.; Rajan, Diana; Fitzgerald, Tomas; Gribble, Susan; Prigmore, Elena; Patel, Ankita; Shaffer, Lisa G.; Carter, Nigel P.; Cheung, Sau Wai; Langston, Claire; Shaw-Smith, Charles 分享 收藏
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture Vissers, Lisenka E. L. M.; Bhatt, Samarth S.; Janssen, Irene M.; Xia, Zhilian; Lalani, Seema R.; Pfundt, Rolph; Derwinska, Katarzyna; de Vries, Bert B. A.; Gilissen, Christian; Hoischen, Alexander; Nesteruk, Monika; Wisniowiecka-Kowalnik, Barbara; Smyk, Marta; Brunner, Han G.; Cheung, Sau Wai; van Kessel, Ad Geurts; Veltman, Joris A.; Stankiewicz, Pawel 分享 收藏
Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations Stankiewicz, Pawel; Sen, Partha; Bhatt, Samarth S.; Storer, Mekayla; Xia, Zhilian; Bejjani, Bassem A.; Ou, Zhishuo; Wiszniewska, Joanna; Driscoll, Daniel J.; Bolivar, Juan; Bauer, Mislen; Zackai, Elaine H.; McDonald-McGinn, Donna; Nowaczyk, Malgorzata M. J.; Murray, Mitzi; Shaikh, Tamim H.; Martin, Vicki; Tyreman, Matthew; Simonic, Ingrid; Willatt, Lionel; Paterson, Joan; Mehta, Sarju; Rajan, Diana; Fitzgerald, Tomas; Gribble, Susan; Prigmore, Elena; Patel, Ankita; Shaffer, Lisa G.; Carter, Nigel P.; Cheung, Sau Wai; Langston, Claire; Shaw-Smith, Charles 分享 收藏