A Convolutional Neural Network for the automatic diagnosis of collagen VI-related muscular dystrophies. - Adrián Bazaga; Mònica Roldán; Carmen Badosa; Cecilia Jiménez-Mallebrera; Josep M. Porta (Appl. Soft Comput., 2019)

The artificial intelligence challenge in rare disease diagnosis: A case study on collagen VI muscular dystrophy. - Marcos Frías; Carmen Badosa; Cecilia Jiménez-Mallebrera; Josep M. Porta; Mònica Roldán (Comput. Biol. Medicine, 2025)