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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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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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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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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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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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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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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Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Sanders, Stephan J., Ercan-Sencicek, A. Gulhan, Hus, Vanessa, Luo, Rui, Murtha, Michael T., Moreno-De-Luca, Daniel, Chu, Su H., Moreau, Michael P., Gupta, Abha R., Thomson, Susanne A., Mason, Christopher E., Bilguvar, Kaya, Celestino-Soper, Patricia B.S., Choi, Murim, Crawford, Emily L., Davis, Lea, Davis Wright, Nicole R., Dhodapkar, Rahul M., DiCola, Michael, DiLullo, Nicholas M., Fernandez, Thomas V., Fielding-Singh, Vikram, Fishman, Daniel O., Frahm, Stephanie, Garagaloyan, Rouben, Goh, Gerald S., Kammela, Sindhuja, Klei, Lambertus, Lowe, Jennifer K., Lund, Sabata C., McGrew, Anna D., Meyer, Kyle A., Moffat, William J., Murdoch, John D., O'Roak, Brian J., Ober, Gordon T., Pottenger, Rebecca S., Raubeson, Melanie J., Song, Youeun, Wang, Qi, Yaspan, Brian L., Yu, Timothy W., Yurkiewicz, Ilana R., Beaudet, Arthur L., Cantor, Rita M., Curland, Martin, Grice, Dorothy E., Günel, Murat, Lifton, Richard P., Mane, Shrikant M., Martin, Donna M., Shaw, Chad A., Sheldon, Michael, Tischfield, Jay A., Walsh, Christopher A., Morrow, Eric M., Ledbetter, David H., Fombonne, Eric, Lord, Catherine, Martin, Christa Lese, Brooks, Andrew I., Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel, Roeder, Kathryn, Devlin, Bernie, State, Matthew W.
Published in Neuron (Cambridge, Mass.) (09.06.2011)
Published in Neuron (Cambridge, Mass.) (09.06.2011)
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Lamin-A/C Variants Found in Patients with Cardiac Conduction Disease Reduce Sodium Currents
Olaopa, Michael A., Spoonamore, Katherine G., Bhakta, Deepak, Chen, Zhenhui, Celestino-Soper, Patricia B.S., Chen, Peng-Sheng, Ai, Tomohiko, Vatta, Matteo
Published in Cardiogenetics (22.02.2018)
Published in Cardiogenetics (22.02.2018)
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Multiple recurrent de novo copy number variations (CNVs), including duplications of the 7q11.23 Williams-Beuren syndrome region, are strongly associated with autism
Sanders, Stephan J., Ercan-Sencicek, A. Gulhan, Hus, Vanessa, Luo, Rui, Murtha, Michael T., Moreno-De-Luca, Daniel, Chu, Su H., Moreau, Michael P., Gupta, Abha R., Thomson, Susanne A., Mason, Christopher E., Bilguvar, Kaya, Celestino-Soper, Patricia B. S., Choi, Murim, Crawford, Emily L., Davis, Lea, Wright, Nicole R. Davis, Dhodapkar, Rahul M., DiCola, Michael, DiLullo, Nicholas M., Fernandez, Thomas V., Fielding-Singh, Vikram, Fishman, Daniel O., Frahm, Stephanie, Garagaloyan, Rouben, Goh, Gerald S., Kammela, Sindhuja, Klei, Lambertus, Lowe, Jennifer K., Lund, Sabata C., McGrew, Anna D., Meyer, Kyle A., Moffat, William J., Murdoch, John D., O'Roak, Brian J., Ober, Gordon T., Pottenger, Rebecca S., Raubeson, Melanie J., Song, Youeun, Wang, Qi, Yaspan, Brian L., Yu, Timothy W., Yurkiewicz, Ilana R., Beaudet, Arthur L., Cantor, Rita M., Curland, Martin, Grice, Dorothy E., Günel, Murat, Lifton, Richard P., Mane, Shrikant M., Martin, Donna M., Shaw, Chad A., Sheldon, Michael, Tischfield, Jay A., Walsh, Christopher A., Morrow, Eric M., Ledbetter, David H., Fombonne, Eric, Lord, Catherine, Martin, Christa Lese, Brooks, Andrew I., Sutcliffe, James S., Cook, Edwin H., Geschwind, Daniel, Roeder, Kathryn, Devlin, Bernie, State, Matthew W.
Published in Neuron (Cambridge, Mass.) (09.06.2011)
Published in Neuron (Cambridge, Mass.) (09.06.2011)
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A Post Mortem Assessment of a 25-Year-Old Man with Ascending Aortic Dissection and a Novel MYLK Variant
Hodge, Katelyn, Spoonamore, Katherine G., Griffith, Christopher B., Weaver, David D., Celestino-Soper, Patricia B.S., Lynnes, Ty C., Gao, Hongyu, Liu, Yunlong, Vatta, Matteo
Published in Cardiogenetics (30.10.2015)
Published in Cardiogenetics (30.10.2015)
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