Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy. - Backlund MP; Gasparian SA; Repo PE; Kangas H; Donner K; Putkuri H; Seitsonen S; Paavo M; Kivelä TT; Sierpina DI; Turunen JA (Ophthalmic genetics, 2026)