Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.
Genes
Lynn, Jacob J; Raney, Austin A; Britton, Nathaniel N; Ramoin, Josh J; Yang, Ryan W RW; Radojevic, Bojana B; McClard, Cynthia K CK; Kingsley, Ronald R; Coussa, Razek Georges RG; Bennett, Lea D LD
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: 161G>A; Cys54Tyr
Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates.
Jci Insight
Pfau, Maximilian M; Cukras, Catherine A CA; Huryn, Laryssa A LA; Zein, Wadih M WM; Ullah, Ehsan E; Boyle, Marisa P MP; Turriff, Amy A; Chen, Michelle A MA; Hinduja, Aarti S AS; Siebel, Hermann Ea HE; Hufnagel, Robert B RB; Jeffrey, Brett G BG; Brooks, Brian P BP
Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease.
Nature Communications
Scortecci, Jessica Fernandes JF; Molday, Laurie L LL; Curtis, Susan B SB; Garces, Fabian A FA; Panwar, Pankaj P; Van Petegem, Filip F; Molday, Robert S RS
Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.
Molecular Therapy. Nucleic Acids
Khan, Mubeen M; Arno, Gavin G; Fakin, Ana A; Parfitt, David A DA; Dhooge, Patty P A PPA; Albert, Silvia S; Bax, Nathalie M NM; Duijkers, Lonneke L; Niblock, Michael M; Hau, Kwan L KL; Bloch, Edward E; Schiff, Elena R ER; Piccolo, Davide D; Hogden, Michael C MC; Hoyng, Carel B CB; Webster, Andrew R AR; Cremers, Frans P M FPM; Cheetham, Michael E ME; Garanto, Alejandro A; Collin, Rob W J RWJ
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11
Variant appearance in text: ABCA4: 161G>A; Cys54Tyr
Findings from a Genotyping Study of Over 1000 People with Inherited Retinal Disorders in Ireland.
Genes
Whelan, Laura L; Dockery, Adrian A; Wynne, Niamh N; Zhu, Julia J; Stephenson, Kirk K; Silvestri, Giuliana G; Turner, Jacqueline J; O'Byrne, James J JJ; Carrigan, Matthew M; Humphries, Peter P; Keegan, David D; Kenna, Paul F PF; Farrar, G Jane GJ
Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.
Human Mutation
Fadaie, Zeinab Z; Khan, Mubeen M; Del Pozo-Valero, Marta M; Cornelis, Stéphanie S SS; Ayuso, Carmen C; Cremers, Frans P M FPM; Roosing, Susanne S; The Abca Study Group,
Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography.
American Journal Of Ophthalmology
Alabduljalil, Talal T; Patel, Rachel C RC; Alqahtani, Abdullah A AA; Gao, Simon S SS; Gale, Michael J MJ; Zhang, Miao M; Jia, Yali Y; Huang, David D; Chiang, Pei-Wen PW; Chen, Rui R; Wang, Jun J; Weleber, Richard G RG; Pennesi, Mark E ME; Yang, Paul P
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: ABCA4: C54Y; rs150774447
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; , ; ,
Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration.
Ophthalmology
Mehat, Manjit S MS; Sundaram, Venki V; Ripamonti, Caterina C; Robson, Anthony G AG; Smith, Alexander J AJ; Borooah, Shyamanga S; Robinson, Martha M; Rosenthal, Adam N AN; Innes, William W; Weleber, Richard G RG; Lee, Richard W J RWJ; Crossland, Michael M; Rubin, Gary S GS; Dhillon, Baljean B; Steel, David H W DHW; Anglade, Eddy E; Lanza, Robert P RP; Ali, Robin R RR; Michaelides, Michel M; Bainbridge, James W B JWB
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
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration.
Journal Of Medical Genetics
Zernant, Jana J; Lee, Winston W; Collison, Frederick T FT; Fishman, Gerald A GA; Sergeev, Yuri V YV; Schuerch, Kaspar K; Sparrow, Janet R JR; Tsang, Stephen H SH; Allikmets, Rando R
Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.
Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
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
Molecular findings from 537 individuals with inherited retinal disease.
Journal Of Medical Genetics
Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; O'Sullivan, James J; Williams, Simon G SG; Lamb, Janine A JA; Panda, Binay B; Sergouniotis, Panagiotis I PI; Gillespie, Rachel L RL; Daiger, Stephen P SP; Hall, Georgina G; Gale, Theodora T; Lloyd, I Christopher IC; Bishop, Paul N PN; Ramsden, Simon C SC; Black, Graeme C M GCM
Publication Date: 2016-11
Variant appearance in text: ABCA4: 161G>A; Cys54Tyr
High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.
American Journal Of Ophthalmology
Lee, Kristy K; Berg, Jonathan S JS; Milko, Laura L; Crooks, Kristy K; Lu, Mei M; Bizon, Chris C; Owen, Phillips P; Wilhelmsen, Kirk C KC; Weck, Karen E KE; Evans, James P JP; Garg, Seema S
Publication Date: 2015-08
Variant appearance in text: ABCA4: 161G>A; Cys54Tyr
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.
Human Genetics
Zhao, Li L; Wang, Feng F; Wang, Hui H; Li, Yumei Y; Alexander, Sharon S; Wang, Keqing K; Willoughby, Colin E CE; Zaneveld, Jacques E JE; Jiang, Lichun L; Soens, Zachry T ZT; Earle, Philip P; Simpson, David D; Silvestri, Giuliana G; Chen, Rui R
Publication Date: 2015-02
Variant appearance in text: ABCA4: 161G>A; Cys54Tyr
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
Quantitative fundus autofluorescence in recessive Stargardt disease.
Investigative Ophthalmology & Visual Science
Burke, Tomas R TR; Duncker, Tobias T; Woods, Russell L RL; Greenberg, Jonathan P JP; Zernant, Jana J; Tsang, Stephen H SH; Smith, R Theodore RT; Allikmets, Rando R; Sparrow, Janet R JR; Delori, François C FC
Inner and outer retinal changes in retinal degenerations associated with ABCA4 mutations.
Investigative Ophthalmology & Visual Science
Huang, Wei Chieh WC; Cideciyan, Artur V AV; Roman, Alejandro J AJ; Sumaroka, Alexander A; Sheplock, Rebecca R; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG
ABCA4 gene screening by next-generation sequencing in a British cohort.
Investigative Ophthalmology & Visual Science
Fujinami, Kaoru K; Zernant, Jana J; Chana, Ravinder K RK; Wright, Genevieve A GA; Tsunoda, Kazushige K; Ozawa, Yoko Y; Tsubota, Kazuo K; Webster, Andrew R AR; Moore, Anthony T AT; Allikmets, Rando R; Michaelides, Michel M
Publication Date: 2013-10-11
Variant appearance in text: ABCA4: 161G>A; C54Y; rs150774447
Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials.
Investigative Ophthalmology & Visual Science
Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Feuer, Willam J WJ; Schwartz, Sharon B SB; Russell, Robert C RC; Steinberg, Janet D JD; Stone, Edwin M EM; Jacobson, Samuel G SG
Quantification of peripapillary sparing and macular involvement in Stargardt disease (STGD1).
Investigative Ophthalmology & Visual Science
Burke, Tomas R TR; Rhee, David W DW; Smith, R Theodore RT; Tsang, Stephen H SH; Allikmets, Rando R; Chang, Stanley S; Lazow, Margot A MA; Hood, Donald C DC; Greenstein, Vivienne C VC
ABCA4 disease progression and a proposed strategy for gene therapy.
Human Molecular Genetics
Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Tsybovsky, Yaroslav Y; Schwartz, Sharon B SB; Windsor, Elizabeth A M EA; Roman, Alejandro J AJ; Sumaroka, Alexander A; Steinberg, Janet D JD; Jacobson, Samuel G SG; Stone, Edwin M EM; Palczewski, Krzysztof K
Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.
Investigative Ophthalmology & Visual Science
Aleman, Tomas S TS; Cideciyan, Artur V AV; Windsor, Elizabeth A M EA; Schwartz, Sharon B SB; Swider, Malgorzata M; Chico, John D JD; Sumaroka, Alexander A; Pantelyat, Alexander Y AY; Duncan, Keith G KG; Gardner, Leigh M LM; Emmons, Jessica M JM; Steinberg, Janet D JD; Stone, Edwin M EM; Jacobson, Samuel G SG