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
Publication Date: 2022-09-01
Variant appearance in text: ABCA4: 2861A>C; Tyr954Ser
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Genes
Cipriani, Valentina V; Pontikos, Nikolas N; Arno, Gavin G; Sergouniotis, Panagiotis I PI; Lenassi, Eva E; Thawong, Penpitcha P; Danis, Daniel D; Michaelides, Michel M; Webster, Andrew R AR; Moore, Anthony T AT; Robinson, Peter N PN; Jacobsen, Julius O B JOB; Smedley, Damian D
Publication Date: 2020-04-23
Variant appearance in text: ABCA4: 2861A>C; Tyr954Ser
Clinical and molecular characteristics of childhood-onset Stargardt disease.
Ophthalmology
Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Robson, Anthony G AG; Holder, Graham E GE; Allikmets, Rando R; Michaelides, Michel M; Moore, Anthony T AT