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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 85   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 75   70 Cited 77 times in Scopus77 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 38   49 Cited 52 times in Scopus52 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 42 2 59 Cited 54 times in Scopus54 57