Gianina Ravenscroft, Irina T Zaharieva, Carlo A Bortolotti, Matteo Lambrughi, Marcello Pignataro, Marco Borsari, Caroline A Sewry, Rahul Phadke, Goknur Haliloglu, Royston Ong, Hayley Goullée, Tamieka Whyte, UK10K Consortium, Adnan Manzur, Beril Talim, Ulkuhan Kaya, Daniel P S Osborn, Alistair R R Forrest, Nigel G Laing, Francesco Muntoni
Hum Mol Genet. 2018 Dec 15; 27(24): 4263–4272. Published online 2018 Sep 12. doi: 10.1093/hmg/ddy320