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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 87   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 77   74 Cited 80 times in Scopus80 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   52 Cited 55 times in Scopus55 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 43 2 65 Cited 62 times in Scopus62 57