Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Genes
Mc Clinton, Benjamin B; Corradi, Zelia Z; McKibbin, Martin M; Panneman, Daan M DM; Roosing, Susanne S; Boonen, Erica G M EGM; Ali, Manir M; Watson, Christopher M CM; Steel, David H DH; Cremers, Frans P M FPM; Inglehearn, Chris F CF; Hitti-Malin, Rebekkah J RJ; Toomes, Carmel C
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
Atrophy Expansion Rates in Stargardt Disease Using Ultra-Widefield Fundus Autofluorescence.
Ophthalmology Science
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; McAllister, Ian L IL; Mackey, David A DA; Constable, Ian J IJ; De Roach, John N JN; Chen, Fred K FK
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: 3259G>A; Glu1087Lys
Assessing Variant Causality and Severity Using Retinal Pigment Epithelial Cells Derived from Stargardt Disease Patients.
Translational Vision Science & Technology
Matynia, Anna A; Wang, Jun J; Kim, Sangbae S; Li, Yumei Y; Dimashkie, Anupama A; Jiang, Zhichun Z; Hu, Jane J; Strom, Samuel P SP; Radu, Roxana A RA; Chen, Rui R; Gorin, Michael B MB
SIBLING CONCORDANCE IN SYMPTOM ONSET AND ATROPHY GROWTH RATES IN STARGARDT DISEASE USING ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE.
Retina (Philadelphia, Pa.)
Heath Jeffery, Rachael C RC; Thompson, Jennifer A JA; Lo, Johnny J; Lamey, Tina M TM; McLaren, Terri L TL; De Roach, John N JN; Azamanov, Dimitar N DN; McAllister, Ian L IL; Constable, Ian J IJ; Chen, Fred K FK
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.
Investigative Ophthalmology & Visual Science
Del Pozo-Valero, Marta M; Riveiro-Alvarez, Rosa R; Martin-Merida, Inmaculada I; Blanco-Kelly, Fiona F; Swafiri, Saoud S; Lorda-Sanchez, Isabel I; Trujillo-Tiebas, Maria José MJ; Carreño, Ester E; Jimenez-Rolando, Belen B; Garcia-Sandoval, Blanca B; Corton, Marta M; Avila-Fernandez, Almudena A; Ayuso, Carmen C
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
Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.
Journal Of Clinical Medicine
Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH
Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.
Journal Of Clinical Medicine
Miere, Alexandra A; Zambrowski, Olivia O; Kessler, Arthur A; Mehanna, Carl-Joe CJ; Pallone, Carlotta C; Seknazi, Daniel D; Denys, Paul P; Amoroso, Francesca F; Petit, Eric E; Souied, Eric H EH
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients.
Frontiers In Genetics
Mena, Marcela D MD; Moresco, Angélica A AA; Vidal, Sofía H SH; Aguilar-Cortes, Diana D; Obregon, María G MG; Fandiño, Adriana C AC; Sendoya, Juan M JM; Llera, Andrea S AS; Podhajcer, Osvaldo L OL
Publication Date: 2021
Variant appearance in text: ABCA4: 3259G>A; Glu1087Lys
Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.
Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020
Variant appearance in text: ABCA4: 3259G>A; E1087K; rs61751398
Genetic Spectrum of ABCA4-Associated Retinal Degeneration in Poland.
Genes
Tracewska, Anna M AM; Kocyła-Karczmarewicz, Beata B; Rafalska, Agnieszka A; Murawska, Joanna J; Jakubaszko-Jablonska, Joanna J; Rydzanicz, Małgorzata M; Stawiński, Piotr P; Ciara, Elżbieta E; Khan, Muhammad Imran MI; Henkes, Arjen A; Hoischen, Alexander A; Gilissen, Christian C; van de Vorst, Maartje M; Cremers, Frans P M FPM; Płoski, Rafał R; Chrzanowska, Krystyna H KH
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; , ; ,
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.
Journal Of Ophthalmology
Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B
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
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
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: 3259G>A; Glu1087Lys
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
Publication Date: 2015-02
Variant appearance in text: ABCA4: 3259G>A; rs61751398