Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
Celestino-Soper, Patricia B.S., Shaw, Chad A., Sanders, Stephan J., Li, Jian, Murtha, Michael T., Ercan-Sencicek, A. Gulhan, Davis, Lea, Thomson, Susanne, Gambin, Tomasz, Chinault, A. Craig, Ou, Zhishuo, German, Jennifer R., Milosavljevic, Aleksandar, Sutcliffe, James S., Cook, Edwin H., Stankiewicz, Pawel, State, Matthew W., Beaudet, Arthur L.
Published in Human molecular genetics (15.11.2011)
Published in Human molecular genetics (15.11.2011)
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Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel
Celestino-Soper, Patrícia B S, Doytchinova, Anisiia, Steiner, Hillel A, Uradu, Andrea, Lynnes, Ty C, Groh, William J, Miller, John M, Lin, Hai, Gao, Hongyu, Wang, Zhiping, Liu, Yunlong, Chen, Peng-Sheng, Vatta, Matteo
Published in PloS one (04.12.2015)
Published in PloS one (04.12.2015)
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Patient-derived tumor xenografts in humanized NSG-SGM3 mice: A new immuno-oncology platform
Yao, L.C, Cheng, M, Wang, M, Soper, B, Snow, K, Banchereau, J, Palucka, K, Keck, J
Published in European journal of cancer (1990) (01.07.2016)
Published in European journal of cancer (1990) (01.07.2016)
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Correction: Evaluation of the Genetic Basis of Familial Aggregation of Pacemaker Implantation by a Large Next Generation Sequencing Panel
Celestino-Soper, Patrícia B S, Doytchinova, Anisiia, Steiner, Hillel A, Uradu, Andrea, Lynnes, Ty C, Groh, William J, Miller, John M, Lin, Hai, Gao, Hongyu, Wang, Zhiping, Liu, Yunlong, Chen, Peng-Sheng, Vatta, Matteo
Published in PloS one (15.01.2016)
Published in PloS one (15.01.2016)
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Journal Article
Validation and Utilization of a Clinical Next-Generation Sequencing Panel for Selected Cardiovascular Disorders
Celestino-Soper, Patrícia B S, Gao, Hongyu, Lynnes, Ty C, Lin, Hai, Liu, Yunlong, Spoonamore, Katherine G, Chen, Peng-Sheng, Vatta, Matteo
Published in Frontiers in cardiovascular medicine (15.03.2017)
Published in Frontiers in cardiovascular medicine (15.03.2017)
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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
Celestino-Soper, Patrícia Bs, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata Mj, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, Ladonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Published in Molecular cytogenetics (05.04.2012)
Published in Molecular cytogenetics (05.04.2012)
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MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy
Piccolo, Pasquale, Attanasio, Sergio, Secco, Ilaria, Sangermano, Riccardo, Strisciuglio, Caterina, Limongelli, Giuseppe, Miele, Erasmo, Mutarelli, Margherita, Banfi, Sandro, Nigro, Vincenzo, Pons, Tirso, Valencia, Alfonso, Zentilin, Lorena, Campione, Severo, Nardone, Gerardo, Lynnes, Ty C, Celestino-Soper, Patricia B S, Spoonamore, Katherine G, D'Armiento, Francesco P, Giacca, Mauro, Staiano, Annamaria, Vatta, Matteo, Collesi, Chiara, Brunetti-Pierri, Nicola
Published in Human molecular genetics (01.01.2017)
Published in Human molecular genetics (01.01.2017)
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Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis
Celestino-Soper, Patricia B. S., Simpson, Edward, Tumbleson Brink, Danika, Lynnes, Ty C., Dlouhy, Stephen, Vatta, Matteo, Yeley, Jana, Brown, Cynthia, Bai, Shaochun
Published in Scientific reports (20.12.2016)
Published in Scientific reports (20.12.2016)
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Donor cell replacement in mice transplanted in utero is limited by immune-independent mechanisms
Barker, J.E, Schuldt, A.J.T, Lessard, M.D, Jude, C.D, Vogler, C.A, Soper, B.W
Published in Blood cells, molecules, & diseases (01.09.2003)
Published in Blood cells, molecules, & diseases (01.09.2003)
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Journal Article
common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
Celestino-Soper, Patrícia B. S, Violante, Sara, Crawford, Emily L, Luo, Rui, Lionel, Anath C, Delaby, Elsa, Cai, Guiqing, Sadikovic, Bekim, Lee, Kwanghyuk, Lo, Charlene, Gao, Kun, Person, Richard E, Moss, Timothy J, German, Jennifer R, Huang, Ni, Shinawi, Marwan, Treadwell-Deering, Diane, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget, Schroer, Richard J, Stevenson, Roger E, Buxbaum, Joseph D, Betancur, Catalina, Scherer, Stephen W, Sanders, Stephan J, Geschwind, Daniel H, Sutcliffe, James S, Hurles, Matthew E, Wanders, Ronald J. A, Shaw, Chad A, Leal, Suzanne M, Cook, Edwin H. Jr, Goin-Kochel, Robin P, Vaz, Frédéric M, Beaudet, Arthur L
Published in Proceedings of the National Academy of Sciences - PNAS (22.05.2012)
Published in Proceedings of the National Academy of Sciences - PNAS (22.05.2012)
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