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Detection of Isodisomy Utilizing SNP Microarray: Frequency, Ascertainment, and Implications 利用SNP芯片阵列检测完全同源嵌合体：频率、确定方法及意义 Molinari, Sharon; Williams, Niecy; Haskell, Gloria; Penton, Andrea; Arreola, Alexandra; Gadi, Inder; Phillips, Karen; Tepperberg, Jim; Schwartz, Stuart 分享 收藏
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Near haploidization is a genomic hallmark which defines a molecular subgroup of giant cell glioblastoma Baker, Tiffany G.; Alden, Jay; Dubuc, Adrian M.; Welsh, Cynthia T.; Znoyko, Iya; Cooley, Linda D.; Farooqi, Midhat S.; Schwartz, Stuart; Li, Yvonne Y.; Cherniack, Andrew D.; Lindhorst, Scott M.; Gener, Melissa; Wolff, Daynna J.; Meredith, David M. 分享 收藏
Yield of additional genetic testing after chromosomal microarray for diagnosis of neurodevelopmental disability and congenital anomalies: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Waggoner, Darrel; Wain, Karen E.; Dubuc, Adrian M.; Conlin, Laura; Hickey, Scott E.; Lamb, Allen N.; Martin, Christa Lese; Morton, Cynthia C.; Rasmussen, Kristen; Schuette, Jane L.; Schwartz, Stuart; Miller, David T. 分享 收藏
Chromosomal microarray analysis of over 45,000 prenatal patients: Significance and efficacy as a first tier diagnostic test Schwartz, Stuart; Pasion, Romela; Cabral, Huong; Burnside, Rachel; Gadi, Inder; Phillips, Karen; Rudd, Mary K.; Schleede, Justin; Tepperberg, James; Papenhausen, Peter 分享 收藏
Commentary on the decision of the American Board of Medical Genetics and Genomics to create a 24-month specialty of Laboratory Genetics and Genomics Bieber, Frederick R.; Cherry, Athena M.; Emanuel, Beverly S.; Francke, Uta; Hoyme, H. Eugene; Jackson, Laird G.; Morton, Cynthia C.; Muenke, Maximillian; Powell, Cynthia M.; Punnett, Hope H.; Rao, P. Nagesh; Schwartz, Stuart; Stevenson, Roger E.; Van Dyke, Daniel L. 分享 收藏
Investigation of genetic architecture of multiple myeloma by next generation sequencing Deutsch, Kerry; Lo, Fang Yin; Olson, Claire; Austin, Sharon; Howard, Kellie; Leonti, Amanda; Maassel, Lindsey; Subia, Christopher; Saloranta, Tuuli; Christopherson, Nicole; Shiji, Kathryn; Patil, Shradha; Schwartz, Stuart; Papenhausen, Peter; Anderson, Steven; Madan, Anup 分享 收藏
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder Mullegama, Sureni V.; Rosenfeld, Jill A.; Orellana, Carmen; van Bon, Bregje W. M.; Halbach, Sara; Repnikova, Elena A.; Brick, Lauren; Li, Chumei; Dupuis, Lucie; Rosello, Monica; Aradhya, Swaroop; Stavropoulos, D. James; Manickam, Kandamurugu; Mitchell, Elyse; Hodge, Jennelle C.; Talkowski, Michael E.; Gusella, James F.; Keller, Kory; Zonana, Jonathan; Schwartz, Stuart; Pyatt, Robert E.; Waggoner, Darrel J.; Shaffer, Lisa G.; Lin, Angela E.; de Vries, Bert B. A.; Mendoza-Londono, Roberto; Elsea, Sarah H. 分享 收藏
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities Talkowski, Michael E.; Maussion, Gilles; Crapper, Liam; Rosenfeld, Jill A.; Blumenthal, Ian; Hanscom, Carrie; Chiang, Colby; Lindgren, Amelia; Pereira, Shahrin; Ruderfer, Douglas; Diallo, Alpha B.; Lopez, Juan Pablo; Turecki, Gustavo; Chen, Elizabeth S.; Gigek, Carolina; Harris, David J.; Lip, Va; An, Yu; Biagioli, Marta; MacDonald, Marcy E.; Lin, Michael; Haggarty, Stephen J.; Sklar, Pamela; Purcell, Shaun; Kellis, Manolis; Schwartz, Stuart; Shaffer, Lisa G.; Natowicz, Marvin R.; Shen, Yiping; Morton, Cynthia C.; Gusella, James F.; Ernst, Carl 分享 收藏
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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder Talkowski, Michael E.; Mullegama, Sureni V.; Rosenfeld, Jill A.; van Bon, W. M.; Shen, Yiping; Repnikova, Elena A.; Gastier-Foster, Julie; Thrush, Devon Lamb; Kathiresan, Sekar; Ruderfer, Douglas M.; Chiang, Colby; Hanscom, Carrie; Ernst, Carl; Lindgren, Amelia M.; Morton, Cynthia C.; An, Yu; Astbury, Caroline; Brueton, Louise A.; Lichtenbelt, Klaske D.; Ades, Lesley C.; Fichera, Marco; Romano, Corrado; Innis, Jeffrey W.; Williams, Charles A.; Bartholomew, Dennis; Van Allen, Margot I.; Parikh, Aditi; Zhang, Lilei; Wu, Bai-Lin; Pyatt, Robert E.; Schwartz, Stuart; Shaffer, Lisa G.; de Vries, Bert B. A.; Gusella, James F.; Elsea, Sarah H. 分享 收藏
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay Burnside, Rachel D.; Pasion, Romela; Mikhail, Fady M.; Carroll, Andrew J.; Robin, Nathaniel H.; Youngs, Erin L.; Gadi, Inder K.; Keitges, Elizabeth; Jaswaney, Vikram L.; Papenhausen, Peter R.; Potluri, Venkateswara R.; Risheg, Hiba; Rush, Brooke; Smith, Janice L.; Schwartz, Stuart; Tepperberg, James H.; Butler, Merlin G. 分享 收藏
Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories Tsuchiya, Karen D.; Shaffer, Lisa G.; Aradhya, Swaroop; Gastier-Foster, Julie M.; Patel, Ankita; Rudd, M. Katharine; Biggerstaff, Julie Sanford; Sanger, Warren G.; Schwartz, Stuart; Tepperberg, James H.; Thorland, Erik C.; Torchia, Beth A.; Brothman, Arthur R. 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
Paxillin is a target for somatic mutations in lung cancer: Implications for cell growth and invasion Jagadeeswaran, Ramasamy; Surawska, Hanna; Krishnaswamy, Soundararajan; Janamanchi, Varalakshmi; Mackinnon, A. Craig; Seiwert, Tanguy Y.; Loganathan, Sivakumar; Kanteti, Rajani; Reichman, Trevor; Nallasura, Vidya; Schwartz, Stuart; Faoro, Leonardo; Wang, Yi-Ching; Girard, Luc; Tretiakova, Maria S.; Ahmed, Salman; Zumba, Osvaldo; Soulii, Lioubov; Bindokas, Vytas P.; Szeto, Livia L.; Gordon, Gavin J.; Bueno, Raphael; Sugarbaker, David; Lingen, Mark W.; Sattler, Martin; Krausz, Thomas; Vigneswaran, Wickii; Natarajan, Viswanathan; Minna, John; Vokes, Everett E.; Ferguson, Mark K.; Husain, Aliya N.; Salgia, Ravi 分享 收藏
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Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome Sharp, Andrew J.; Hansen, Sierra; Selzer, Rebecca R.; Cheng, Ze; Regan, Regina; Hurst, Jane A.; Stewart, Helen; Price, Sue M.; Blair, Edward; Hennekam, Raoul C.; Fitzpatrick, Carrie A.; Segraves, Rick; Richmond, Todd A.; Guiver, Cheryl; Albertson, Donna G.; Pinkel, Daniel; Eis, Peggy S.; Schwartz, Stuart; Knight, Samantha J. L.; Eichler, Evan E. 分享 收藏
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