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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   11 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 76 times in Scopus76 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   48 Cited 51 times in Scopus51 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 56 Cited 52 times in Scopus52 54