Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.
Scientific Reports
Karali, Marianthi M; Testa, Francesco F; Di Iorio, Valentina V; Torella, Annalaura A; Zeuli, Roberta R; Scarpato, Margherita M; Romano, Francesca F; Onore, Maria Elena ME; Pizzo, Mariateresa M; Melillo, Paolo P; Brunetti-Pierri, Raffaella R; Passerini, Ilaria I; Pelo, Elisabetta E; Cremers, Frans P M FPM; Esposito, Gabriella G; Nigro, Vincenzo V; Simonelli, Francesca F; Banfi, Sandro S
Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Sangermano, Riccardo R; Garanto, Alejandro A; Khan, Mubeen M; Runhart, Esmee H EH; Bauwens, Miriam M; Bax, Nathalie M NM; van den Born, L Ingeborgh LI; Khan, Muhammad Imran MI; Cornelis, Stéphanie S SS; Verheij, Joke B G M JBGM; Pott, Jan-Willem R JR; Thiadens, Alberta A H J AAHJ; Klaver, Caroline C W CCW; Puech, Bernard B; Meunier, Isabelle I; Naessens, Sarah S; Arno, Gavin G; Fakin, Ana A; Carss, Keren J KJ; Raymond, F Lucy FL; Webster, Andrew R AR; Dhaenens, Claire-Marie CM; Stöhr, Heidi H; Grassmann, Felix F; Weber, Bernhard H F BHF; Hoyng, Carel B CB; De Baere, Elfride E; Albert, Silvia S; Collin, Rob W J RWJ; Cremers, Frans P M FPM
Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.
Cold Spring Harbor Molecular Case Studies
Zernant, Jana J; Lee, Winston W; Nagasaki, Takayuki T; Collison, Frederick T FT; Fishman, Gerald A GA; Bertelsen, Mette M; Rosenberg, Thomas T; Gouras, Peter P; Tsang, Stephen H SH; Allikmets, Rando R
ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.
Genome Research
Sangermano, Riccardo R; Khan, Mubeen M; Cornelis, Stéphanie S SS; Richelle, Valerie V; Albert, Silvia S; Garanto, Alejandro A; Elmelik, Duaa D; Qamar, Raheel R; Lugtenberg, Dorien D; van den Born, L Ingeborgh LI; Collin, Rob W J RWJ; Cremers, Frans P M FPM