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

Hilary C. Martin, Grace E. Kim, Alistair T. Pagnamenta, Yoshiko Murakami, Gemma L. Carvill, Esther Meyer, Richard R. Copley, Andrew Rimmer, Giulia Barcia, Matthew R. Fleming, Jack Kronengold, Maile R. Brown, Karl A. Hudspith, John Broxholme, Alexander Kanapin, Jean Baptiste Cazier, Taroh Kinoshita, Rima Nabbout, David Bentley, Gil McVeanSinéad Heavin, Zenobia Zaiwalla, Tony McShane, Heather C. Mefford, Deborah Shears, Helen Stewart, Manju A. Kurian, Ingrid E. Scheffer, Edward Blair, Peter Donnelly, Leonard K. Kaczmarek, Jenny C. Taylor*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

180 Scopus citations

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Medicine & Life Sciences