Detection of SMA by discrimination of SMN1 and SMN2 using long-read sequencing (ONT) and artificial intelligence (AI) - Kyriakidis, Chris; Galevski, David; Madjarov, Gjorgji; Nikov, Aleksandar; Nowicki, Grzegorz; Kalka, Rafal; Schack, Anne Kristine; Alapont, Karmele; Krych, Lukasz; Chaushevska, Marija; Kyriakidis, Dimitrios; Velkoski, Zoran; et al. (SPRINGERNATURE, 2024)