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Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage Chau, Matthew Hoi Kin; Anderson, Stephanie A.; Song, Rodger; Cooper, Lance; Ward, Patricia A.; Yuan, Bo; Shaw, Chad; Stankiewicz, Pawel; Cheung, Sau Wai; Vossaert, Liesbeth; Wang, Yue; Owen, Nichole M.; Smith, Janice; Bacino, Carlos A.; Schulze, Katharina, V; Bi, Weimin Share Save
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences Bi, Weimin; Yuan, Bo; Liu, Pengfei; Murry, Jaclyn B.; Qin, Xiang; Xia, Fan; Quach, Thao; Cooper, Lance M.; Wiszniewska, Joanna; Hixson, Patricia; Peacock, Sandra; Tonk, Vijay S.; Huff, Robert W.; Ortega, Veronica; Lupski, James R.; Scherer, Steven E.; Littlejohn, Rebecca Okashah; Velagaleti, Gopalrao V. N.; Roeder, Elizabeth R.; Cheung, Sau Wai Share Save
Detection of clinically relevant exonic copy number changes in fetuses by chromosomal microarray analysis Owen, Nichole; Okur, Volkan; Anderson, Stephanie; Smith, Janice; Bacino, Carlos; Ward, Patricia; Cheung, Sau; Breman, Amy; Van Den Veyver, Ignatia; Bi, Weimin Share Save
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels Yuan, Bo; Wang, Lei; Liu, Pengfei; Shaw, Chad; Dai, Hongzheng; Cooper, Lance; Zhu, Wenmiao; Anderson, Stephanie A.; Meng, Linyan; Wang, Xia; Wang, Yue; Xia, Fan; Xiao, Rui; Braxton, Alicia; Peacock, Sandra; Schmitt, Eric; Ward, Patricia A.; Vetrini, Francesco; He, Weimin; Chiang, Theodore; Muzny, Donna; Gibbs, Richard A.; Beaudet, Arthur L.; Breman, Amy M.; Smith, Janice; Cheung, Sau Wai; Bacino, Carlos A.; Eng, Christine M.; Yang, Yaping; Lupski, James R.; Bi, Weimin Share Save
Cytogenetically visible inversions are formed by multiple molecular mechanisms Pettersson, Maria; Grochowski, Christopher M.; Wincent, Josephine; Eisfeldt, Jesper; Breman, Amy M.; Cheung, Sau W.; Krepischi, Ana C. V.; Rosenberg, Carla; Lupski, James R.; Ottosson, Jesper; Lovmar, Lovisa; Gacic, Jelena; Lundberg, Elisabeth S.; Nilsson, Daniel; Carvalho, Claudia M. B.; Lindstrand, Anna Share Save
Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings Liu, Qian; Karolak, Justyna A.; Grochowski, Christopher M.; Wilson, Theresa A.; Rosenfeld, Jill A.; Bacino, Carlos A.; Lalani, Seema R.; Patel, Ankita; Breman, Amy; Smith, Janice L.; Cheung, Sau Wai; Lupski, James R.; Bi, Weimin; Stankiewicz, Pawel Share Save
Deciphering the complexity of simple chromosomal insertions by genome sequencing Dong, Zirui; Chau, Matthew Hoi Kin; Zhang, Yanyan; Dai, Peng; Zhu, Xiaofan; Leung, Tak Yeung; Kong, Xiangdong; Kwok, Yvonne K.; Stankiewicz, Pawel; Cheung, Sau Wai; Choy, Kwong Wai Share Save
Low-pass genome sequencing versus chromosomal microarray analysis: implementation in prenatal diagnosis Wang, Huilin; Dong, Zirui; Zhang, Rui; Chau, Matthew Hoi Kin; Yang, Zhenjun; Tsang, Kathy Yin Ching; Wong, Hoi Kin; Gui, Baoheng; Meng, Zhuo; Xiao, Kelin; Zhu, Xiaofan; Wang, Yanfang; Chen, Shaoyun; Leung, Tak Yeung; Cheung, Sau Wai; Kwok, Yvonne K.; Morton, Cynthia C.; Zhu, Yuanfang; Choy, Kwong Wai Share Save
Genome Sequencing Explores Complexity of Chromosomal Abnormalities in Recurrent Miscarriage Dong, Zirui; Yan, Junhao; Xu, Fengping; Yuan, Jianying; Jiang, Hui; Wang, Huilin; Chen, Haixiao; Zhang, Lei; Ye, Lingfei; Xu, Jinjin; Shi, Yuhua; Yang, Zhenjun; Cao, Ye; Chen, Lingyun; Li, Qiaoling; Zhao, Xia; Li, Jiguang; Chen, Ao; Zhang, Wenwei; Wong, Hoi Gin; Qin, Yingying; Zhao, Han; Chen, Yuan; Li, Pei; Ma, Tao; Wang, Wen-Jing; Kwok, Yvonne K.; Jiang, Yuan; Pursley, Amber N.; Chung, Jacqueline P. W.; Hong, Yan; Kristiansen, Karsten; Yang, Huanming; Pina-Aguilar, Raul E.; Leung, Tak Yeung; Cheung, Sau Wai; Morton, Cynthia C.; Choy, Kwong Wai; Chen, Zi-Jiang Share Save
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome Hijazi, Hadia; Coelho, Fernanda S.; Gonzaga-Jauregui, Claudia; Bernardini, Laura; Mar, Soe S.; Manning, Melanie A.; Hanson-Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A.; Jones, Julie R.; Friez, Michael J.; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; Song, Xiaofei; Davis-Williams, Angelique; Jornlin, Carly; Wight, Patricia A.; Patyal, Pankaj; Taube, Jennifer; Poretti, Andrea; Inoue, Ken; Zhang, Feng; Pehlivan, Davut; Carvalho, Claudia M. B.; Hobson, Grace M.; Lupski, James R. Share Save
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay (vol 21, pg 1058, 2019) Mucha, Bettina E.; Banka, Siddharth; Ajeawung, Norbert Fonya; Molidperee, Sirinart; Chen, Gary G.; Koenig, Mary Kay; Adejumo, Rhamat B.; Till, Marianne; Harbord, Michael; Perrier, Renee; Lemyre, Emmanuelle; Boucher, Renee-Myriam; Skotko, Brian G.; Waxler, Jessica L.; Thomas, Mary Ann; Hodge, Jennelle C.; Gecz, Jozef; Nicholl, Jillian; McGregor, Lesley; Linden, Tobias; Sisodiya, Sanjay M.; Sanlaville, Damien; Cheung, Sau W.; Ernst, Carl; Campeau, Philippe M. Share Save
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay Mucha, Bettina E.; Banka, Siddharth; Ajeawung, Norbert Fonya; Molidperee, Sirinart; Chen, Gary G.; Koenig, Mary Kay; Adejumo, Rhamat B.; Till, Marianne; Harbord, Michael; Perrier, Renee; Lemyre, Emmanuelle; Boucher, Renee-Myriam; Skotko, Brian G.; Waxler, Jessica L.; Thomas, Mary Ann; Hodge, Jennelle C.; Gecz, Jozef; Nicholl, Jillian; McGregor, Lesley; Linden, Tobias; Sisodiya, Sanjay M.; Sanlaville, Damien; Cheung, Sau W.; Ernst, Carl; Campeau, Philippe M. Share Save
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants Pizzo, Lucilla; Jensen, Matthew; Polyak, Andrew; Rosenfeld, Jill A.; Mannik, Katrin; Krishnan, Arjun; McCready, Elizabeth; Pichon, Olivier; Le Caignec, Cedric; Van Dijck, Anke; Pope, Kate; Voorhoeve, Els; Yoon, Jieun; Stankiewicz, Pawel; Cheung, Sau Wai; Pazuchanics, Damian; Huber, Emily; Kumar, Vijay; Kember, Rachel L.; Mari, Francesca; Curro, Aurora; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Luana; Vincent, Marie; Nizon, Mathilde; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Martin-Coignard, Dominique; Mosca-Boidron, Anne-Laure; Caberg, Jean-Hubert; Bucan, Maja; Zeesman, Susan; Nowaczyk, Malgorzata J. M.; Lefebvre, Mathilde; Faivre, Laurence; Callier, Patrick; Skinner, Cindy; Keren, Boris; Perrine, Charles; Prontera, Paolo; Marle, Nathalie; Renieri, Alessandra; Reymond, Alexandre; Kooy, R. Frank; Isidor, Bertrand; Schwartz, Charles; Romano, Corrado; Sistermans, Erik; Amor, David J.; Andrieux, Joris; Girirajan, Santhosh Share Save
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies Yuan, Bo; Neira, Juanita; Pehlivan, Davut; Santiago-Sim, Teresa; Song, Xiaofei; Rosenfeld, Jill; Posey, Jennifer E.; Patel, Vipulkumar; Jin, Weihong; Adam, Margaret P.; Baple, Emma L.; Dean, John; Fong, Chin-To; Hickey, Scott E.; Hudgins, Louanne; Leon, Eyby; Madan-Khetarpal, Suneeta; Rawlins, Lettie; Rustad, Cecilie F.; Stray-Pedersen, Asbjorg; Tveten, Kristian; Wenger, Olivia; Diaz, Jullianne; Jenkins, Laura; Martin, Laura; McGuire, Marianne; Pietryga, Marguerite; Ramsdell, Linda; Slattery, Leah; Abid, Farida; Bertuch, Alison A.; Grange, Dorothy; Immken, LaDonna; Schaaf, Christian P.; Van Esch, Hilde; Bi, Weimin; Cheung, Sau Wai; Breman, Amy M.; Smith, Janice L.; Shaw, Chad; Crosby, Andrew H.; Eng, Christine; Yang, Yaping; Lupski, James R.; Xiao, Rui; Liu, Pengfei Share Save
BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes Aref-Eshghi, Erfan; Bend, Eric G.; Hood, Rebecca L.; Schenkel, Laila C.; Carere, Deanna Alexis; Chakrabarti, Rana; Nagamani, Sandesh C. S.; Cheung, Sau Wai; Campeau, Philippe M.; Prasad, Chitra; Siu, Victoria Mok; Brady, Lauren; Tarnopolsky, Mark A.; Callen, David J.; Innes, A. Micheil; White, Susan M.; Meschino, Wendy S.; Shuen, Andrew Y.; Pare, Guillaume; Bulman, Dennis E.; Ainsworth, Peter J.; Lin, Hanxin; Rodenhiser, David I.; Hennekam, Raoul C.; Boycott, Kym M.; Schwartz, Charles E.; Sadikovic, Bekim Share Save
Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics Dong, Zirui; Wang, Huilin; Chen, Haixiao; Jiang, Hui; Yuan, Jianying; Yang, Zhenjun; Wang, Wen-Jing; Xu, Fengping; Guo, Xiaosen; Cao, Ye; Zhu, Zhenzhen; Geng, Chunyu; Cheung, Wan Chee; Kwok, Yvonne K.; Yang, Huanming; Leung, Tak Yeung; Morton, Cynthia C.; Cheung, Sau Wai; Choy, Kwong Wai Share Save
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