Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

✍ Scribed by Martin, H. C.; Kim, G. E.; Pagnamenta, A. T.; Murakami, Y.; Carvill, G. L.; Meyer, E.; Copley, R. R.; Rimmer, A.; Barcia, G.; Fleming, M. R.; Kronengold, J.; Brown, M. R.; Hudspith, K. A.; Broxholme, J.; Kanapin, A.; Cazier, J.-B.; Kinoshita, T.; Nabbout, R.; Bentley, D.; McVean, G.; Heavin, S.; Zaiwalla, Z.; McShane, T.; Mefford, H. C.; Shears, D.; Stewart, H.; Kurian, M. A.; Scheffer, I. E.; Blair, E.; Donnelly, P.; Kaczmarek, L. K.; Taylor, J. C.

• Book ID: 121674411
• Publisher: Oxford University Press
• Year: 2014
• Tongue: English
• Weight: 632 KB
• Volume: 23
• Category: Article
• ISSN: 0964-6906
• DOI: 10.1093/hmg/ddu030