Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: Implications for clinical use and genetic discovery efforts in human disease

Mark T.W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely Dejesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka Van Blitterswijk, Rosa Rademakers, Leonard Petrucelli, John D. Fryer

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35 Scopus citations

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Medicine & Life Sciences