Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy – a case report

por Al-Khuzaei, Saoud, Hudspith, Karl A. Z., Broadgate, Suzanne, Shanks, Morag E., Clouston, Penny, Németh, Andrea H., Halford, Stephanie, Downes, Susan M.
Publicado 2021

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

por Martin, Hilary C., Kim, Grace E., Pagnamenta, Alistair T., Murakami, Yoshiko, Carvill, Gemma L., Meyer, Esther, Copley, Richard R., Rimmer, Andrew, Barcia, Giulia, Fleming, Matthew R., Kronengold, Jack, Brown, Maile R., Hudspith, Karl A., Broxholme, John, Kanapin, Alexander, Cazier, Jean-Baptiste, Kinoshita, Taroh, Nabbout, Rima, Bentley, David, McVean, Gil, Heavin, Sinéad, Zaiwalla, Zenobia, McShane, Tony, Mefford, Heather C., Shears, Deborah, Stewart, Helen, Kurian, Manju A., Scheffer, Ingrid E., Blair, Edward, Donnelly, Peter, Kaczmarek, Leonard K., Taylor, Jenny C.
Publicado 2014