Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
Haloom Rafehi, David J Szmulewicz, Mark F Bennett, Nara LM Sobreira, Kate Pope, Katherine R Smith, Greta Gillies, Peter Diakumis, Egor Dolzhenko, Michael A Eberle, Maria Garcia Barcina, David P Breen, Andrew M Chancellor, Phillip D Cremer, Martin B Delatycki, Brent L Fogel, Anna Hackett, G Michael Halmagyi, Solange Kapetanovic, Anthony Lang Show all
American Journal of Human Genetics | CELL PRESS | Published : 2019
Awarded by Australian Government National Health and Medical Research Council
Awarded by NIH (NINDS)
Awarded by NHMRC Senior Research Fellowship
Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
We acknowledge access to the dataset EGA00001003562 from the European Genome-Phenome Archive. This work was supported by the Australian Government National Health and Medical Research Council (Program Grant 1054618 to M.B.), the NIH (NINDS grant R01NS082094 to B.L.F.), and the Murdoch Children's Research Institute. M.B. was supported by an NHMRC Senior Research Fellowship (1102971) and D.P.B. was supported by a Wellcome Clinical Research Career Development Fellowship. Additional funding was provided by the Independent Research Institute Infrastructure Support Scheme and the Victorian State Government Operational Infrastructure Program.