SpliceVault predicts the precise nature of variant-associated mis-splicing.
Nature Genetics
Dawes, Ruebena R; Bournazos, Adam M AM; Bryen, Samantha J SJ; Bommireddipalli, Shobhana S; Marchant, Rhett G RG; Joshi, Himanshu H; Cooper, Sandra T ST
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
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography.
Translational Vision Science & Technology
Glinton, Sophie L SL; Calcagni, Antonio A; Lilaonitkul, Watjana W; Pontikos, Nikolas N; Vermeirsch, Sandra S; Zhang, Gongyu G; Arno, Gavin G; Wagner, Siegfried K SK; Michaelides, Michel M; Keane, Pearse A PA; Webster, Andrew R AR; Mahroo, Omar A OA; Robson, Anthony G AG
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10
Variant appearance in text: ABCA4: 4253+4C>T; rs61754044
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
The British Journal Of Ophthalmology
Fujinami, Kaoru K; Strauss, Rupert W RW; Chiang, John Pei-Wen JP; Audo, Isabelle S IS; Bernstein, Paul S PS; Birch, David G DG; Bomotti, Samantha M SM; Cideciyan, Artur V AV; Ervin, Ann-Margret AM; Marino, Meghan J MJ; Sahel, José-Alain JA; Mohand-Said, Saddek S; Sunness, Janet S JS; Traboulsi, Elias I EI; West, Sheila S; Wojciechowski, Robert R; Zrenner, Eberhart E; Michaelides, Michel M; Scholl, Hendrik P N HPN; , ; ,
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
Highly sensitive measurements of disease progression in rare disorders: Developing and validating a multimodal model of retinal degeneration in Stargardt disease.
Plos One
Lambertus, Stanley S; Bax, Nathalie M NM; Fakin, Ana A; Groenewoud, Joannes M M JM; Klevering, B Jeroen BJ; Moore, Anthony T AT; Michaelides, Michel M; Webster, Andrew R AR; van der Wilt, Gert Jan GJ; Hoyng, Carel B CB
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Plos One
Weisschuh, Nicole N; Mayer, Anja K AK; Strom, Tim M TM; Kohl, Susanne S; Glöckle, Nicola N; Schubach, Max M; Andreasson, Sten S; Bernd, Antje A; Birch, David G DG; Hamel, Christian P CP; Heckenlively, John R JR; Jacobson, Samuel G SG; Kamme, Christina C; Kellner, Ulrich U; Kunstmann, Erdmute E; Maffei, Pietro P; Reiff, Charlotte M CM; Rohrschneider, Klaus K; Rosenberg, Thomas T; Rudolph, Günther G; Vámos, Rita R; Varsányi, Balázs B; Weleber, Richard G RG; Wissinger, Bernd B
Genetic and clinical analysis of ABCA4-associated disease in African American patients.
Human Mutation
Zernant, Jana J; Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Noupuu, Kalev K; Yuan, Bo B; Cai, Carolyn C; Lupski, James R JR; Yannuzzi, Lawrence A LA; Tsang, Stephen H SH; Allikmets, Rando R