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Grimwood, Keith, Huang, Q. Sue, Sadleir, Lynette G., Nix, Allan, Kilpatrick, David R., Oberste, M. Steven and Pallansch, Mark A. (2003) Acute flaccid paralysis from echovirus type 33 infection. Journal of Clinical Microbiology, 41 5: 2233-2234. doi:10.1128/JCM.41.5.2230-2232.2003 112   12 Cited 11 times in Scopus11 0
Heron, Sarah E., Grinton, Bronwyn E., Kivity, Sara, Afawi, Zaid, Zuberi, Sameer M., Hughes, James N., Pridmore, Clair, Hodgson, Bree L., Iona, Xenia, Sadleir, Lynette G., Pelekanos, James, Herlenius, Eric, Goldberg-Stern, Hadassa, Bassan, Haim, Haan, Eric, Korczyn, Amos D., Gardner, Alison E., Corbett, Mark A., Gecz, Jozef, Thomas, Paul Q., Mulley, John C., Berkovic, Samuel F., Scheffer, Ingrid E. and Dibbens, Leanne M. (2012) PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90 1: 152-160. doi:10.1016/j.ajhg.2011.12.003 78   76 Cited 86 times in Scopus86 2
Mefford, Heather C., Yendle, Simone C., Hsu, Cynthia, Cook, Joseph, Geraghty, Eileen, McMahon, Jacinta M., Eeg-Olofsson, Orvar, Sadleir, Lynette G., Gill, Deepak, Ben-Zeev, Bruria, Lerman-Sagie, Tally, Mackay, Mark, Freeman, Jeremy L., Andermann, Eva, Pelakanos, James T., Andrews, Ian, Wallace, Geoffrey, Eichler, Evan E., Berkovic, Samuel F. and Scheffer, Ingrid E. (2011) Rare copy number variants are an important cause of epileptic encephalopathies. Annals of Neurology, 70 6: 974-985. doi:10.1002/ana.22645 39   57 Cited 60 times in Scopus60 4
Carvill, Gemma L., Heavin, Sinéad B., Yendle, Simone C., McMahon, Jacinta M., O'Roak, Brian J., Cook, Joseph, Khan, Adiba, Dorschner, Michael O., Weaver, Molly, Calvert, Sophie, Malone, Stephen, Wallace, Geoffrey, Stanley, Thorsten, Bye, Ann M. E., Bleasel, Andrew, Howell, Katherine B., Kivity, Sara, Mackay, Mark T., Rodriguez-Casero, Victoria, Webster, Richard, Korczyn, Amos, Afawi, Zaid, Zelnick, Nathanel, Lerman-Sagie, Tally, Lev, Dorit, Møller, Rikke S., Gill, Deepak, Andrade, Danielle M., Freeman, Jeremy L., Sadleir, Lynette G., Shendure, Jay, Berkovic, Samuel F., Scheffer, Ingrid E. and Mefford, Heather C. (2013) Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genetics, 45 7: 825-830. doi:10.1038/ng.2646 44 2 84 Cited 80 times in Scopus80 57