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, WGS500 Consortium

Research output: Contribution to journal › Article › peer-review

164 Citations (Scopus)

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Medicine & Life Sciences