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: 618C>G; Ser206Arg
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; , ; ,
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
Plos One
Eisenberger, Tobias T; Neuhaus, Christine C; Khan, Arif O AO; Decker, Christian C; Preising, Markus N MN; Friedburg, Christoph C; Bieg, Anika A; Gliem, Martin M; Charbel Issa, Peter P; Holz, Frank G FG; Baig, Shahid M SM; Hellenbroich, Yorck Y; Galvez, Alberto A; Platzer, Konrad K; Wollnik, Bernd B; Laddach, Nadja N; Ghaffari, Saeed Reza SR; Rafati, Maryam M; Botzenhart, Elke E; Tinschert, Sigrid S; Börger, Doris D; Bohring, Axel A; Schreml, Julia J; Körtge-Jung, Stefani S; Schell-Apacik, Chayim C; Bakur, Khadijah K; Al-Aama, Jumana Y JY; Neuhann, Teresa T; Herkenrath, Peter P; Nürnberg, Gudrun G; Nürnberg, Peter P; Davis, John S JS; Gal, Andreas A; Bergmann, Carsten C; Lorenz, Birgit B; Bolz, Hanno J HJ
Publication Date: 2013
Variant appearance in text: ABCA4: 618C>G; rs61748536
Deducing the pathogenic contribution of recessive ABCA4 alleles in an outbred population.
Human Molecular Genetics
Schindler, Emily I EI; Nylen, Erik L EL; Ko, Audrey C AC; Affatigato, Louisa M LM; Heggen, Andrew C AC; Wang, Kai K; Sheffield, Val C VC; Stone, Edwin M EM