Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Remko Goossens, Marlinde L van den Boogaard, Richard J L F Lemmers, Judit Balog, Patrick J van der Vliet, Iris M Willemsen, Julie Schouten, Ignazio Maggio, Nienke van der Stoep, Rob C Hoeben, Stephen J Tapscott, Niels Geijsen, Manuel A F V Gonçalves, Sabrina Sacconi, Rabi Tawil, Silvère M van der Maarel
Journal of Medical Genetics Dec 2019, 56 (12) 828-837; DOI: 10.1136/jmedgenet-2019-106402