Normal and pathogenic variation of <i>RFC1</i> repeat expansions: implications for clinical diagnosis
Natalia Dominik(University College London), J. Louise Jones(Queen Mary University of London), S Henderson(University of Pavia), Tim Hubbard(Wellcome Sanger Institute), Pedro Furió‐Tarí(Jackson Laboratory), Cecilia Perini(Istituto di Genetica Molecolare), Igor Stevanovski(Garvan Institute of Medical Research), Riccardo Curró(University of Pavia), Elisa Vegezzi, Fulya Akçimen(National Institutes of Health), A. Devereau(Genomics England), Dina Halai(Genomics England), C. R. Boustred(Jackson Laboratory), Louise C. Daugherty(University of Cambridge), Greg Elgar(Medical Research Council), Daniela Di Bella(Fondazione IRCCS Istituto Neurologico Carlo Besta), Marinella Corbetta(Fondazione IRCCS Istituto Neurologico Carlo Besta), Sanjog R. Chintalaphani(Garvan Institute of Medical Research), Valentina Pirota(University of Pavia), Wilson Marques(Universidade de São Paulo), Robert W. Jackson(University of Bath), Marta Bleda(University of Cambridge), Janna M. Hackett, Stefano Facchini(University College London), Pedro José Tomaselli(Universidade de São Paulo), Stefania Magri(Fondazione IRCCS Istituto Neurologico Carlo Besta), Prabhu Arumugam(Jackson Laboratory), Tom Fowler, Kylie-Ann Montgomery(University College London), Elena Abati(University of Milan), Helen Brittain(Great Ormond Street Hospital), Angela Hamblin(Genomics England), Hannah Macpherson(University College London), Ilaria Quartesan(National Hospital for Neurology and Neurosurgery), Anna de Burca(Genomics England), Emil K. Gustavsson(Great Ormond Street Hospital), Arianna Manini(University of Milan), Mark J. Caulfield(William Harvey Research Institute), Rebecca E. Foulger(Queen Mary University of London), Elisa Sarto(Fondazione IRCCS Istituto Neurologico Carlo Besta), Emma L. Baple(University of Exeter), John C. Ambrose(Jackson Laboratory), Glenda Paola Grupelli(Istituto di Genetica Molecolare), Gary C.W. Chan(Garvan Institute of Medical Research), J. M. Boissiere, C.E.H. Craig, Emmanuele Crespan(Istituto di Genetica Molecolare), J. Holman, Kristina Ibáñez(Genomics England)
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