Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.
International Journal Of Molecular Sciences
Gersch, Julia J; Hufendiek, Katerina K; Delarocque, Julien J; Framme, Carsten C; Jacobsen, Christina C; Stöhr, Heidi H; Kellner, Ulrich U; Hufendiek, Karsten K
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: 5917del; Val1973*
Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.
Frontiers In Genetics
Maltese, Paolo Enrico PE; Colombo, Leonardo L; Martella, Salvatore S; Rossetti, Luca L; El Shamieh, Said S; Sinibaldi, Lorenzo L; Passarelli, Chiara C; Coppè, Andrea Maria AM; Buzzonetti, Luca L; Falsini, Benedetto B; Chiurazzi, Pietro P; Placidi, Giorgio G; Tanzi, Benedetta B; Bertelli, Matteo M; Iarossi, Giancarlo G
Publication Date: 2022
Variant appearance in text: ABCA4: 5917del; Val1973*; rs61751389
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: 5917del; Val1973*
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: 5917delG; Val1973fs; rs61751389
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bauwens, Miriam M; Garanto, Alejandro A; Sangermano, Riccardo R; Naessens, Sarah S; Weisschuh, Nicole N; De Zaeytijd, Julie J; Khan, Mubeen M; Sadler, Françoise F; Balikova, Irina I; Van Cauwenbergh, Caroline C; Rosseel, Toon T; Bauwens, Jim J; De Leeneer, Kim K; De Jaegere, Sarah S; Van Laethem, Thalia T; De Vries, Meindert M; Carss, Keren K; Arno, Gavin G; Fakin, Ana A; Webster, Andrew R AR; de Ravel de l'Argentière, Thomy J L TJL; Sznajer, Yves Y; Vuylsteke, Marnik M; Kohl, Susanne S; Wissinger, Bernd B; Cherry, Timothy T; Collin, Rob W J RWJ; Cremers, Frans P M FPM; Leroy, Bart P BP; De Baere, Elfride E
Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations.
Genes
Dockery, Adrian A; Stephenson, Kirk K; Keegan, David D; Wynne, Niamh N; Silvestri, Giuliana G; Humphries, Peter P; Kenna, Paul F PF; Carrigan, Matthew M; Farrar, G Jane GJ
Genotypic spectrum and phenotype correlations of ABCA4-associated disease in patients of south Asian descent.
European Journal Of Human Genetics : Ejhg
Lee, Winston W; Schuerch, Kaspar K; Zernant, Jana J; Collison, Frederick T FT; Bearelly, Srilaxmi S; Fishman, Gerald A GA; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R
Publication Date: 2017-06
Variant appearance in text: ABCA4: 5917del; V1973*
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
European Journal Of Human Genetics : Ejhg
Haer-Wigman, Lonneke L; van Zelst-Stams, Wendy Ag WA; Pfundt, Rolph R; van den Born, L Ingeborgh LI; Klaver, Caroline Cw CC; Verheij, Joke Bgm JB; Hoyng, Carel B CB; Breuning, Martijn H MH; Boon, Camiel Jf CJ; Kievit, Anneke J AJ; Verhoeven, Virginie Jm VJ; Pott, Jan Wr JW; Sallevelt, Suzanne Ceh SC; van Hagen, Johanna M JM; Plomp, Astrid S AS; Kroes, Hester Y HY; Lelieveld, Stefan H SH; Hehir-Kwa, Jayne Y JY; Castelein, Steven S; Nelen, Marcel M; Scheffer, Hans H; Lugtenberg, Dorien D; Cremers, Frans Pm FP; Hoefsloot, Lies L; Yntema, Helger G HG
Publication Date: 2017-05
Variant appearance in text: ABCA4: 5917del; Val1973*
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
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
Genomic screening of ABCA4 and array CGH analysis underline the genetic variability of Greek patients with inherited retinal diseases.
Meta Gene
Tsipi, Maria M; Tzetis, Maria M; Kosma, Konstantina K; Moschos, Marilita M; Braoudaki, Maria M; Poulou, Myrto M; Kanavakis, Emmanuel E; Kitsiou-Tzeli, Sofia S
Perez-Carro, Raquel R; Corton, Marta M; Sánchez-Navarro, Iker I; Zurita, Olga O; Sanchez-Bolivar, Noelia N; Sánchez-Alcudia, Rocío R; Lelieveld, Stefan H SH; Aller, Elena E; Lopez-Martinez, Miguel Angel MA; López-Molina, Ma Isabel MI; Fernandez-San Jose, Patricia P; Blanco-Kelly, Fiona F; Riveiro-Alvarez, Rosa R; Gilissen, Christian C; Millan, Jose M JM; Avila-Fernandez, Almudena A; Ayuso, Carmen C
Publication Date: 2016-01-25
Variant appearance in text: ABCA4: 5917delG; Val1973*
Analysis of the ABCA4 genomic locus in Stargardt disease.
Human Molecular Genetics
Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.
European Journal Of Human Genetics : Ejhg
Kitiratschky, Veronique B D VB; Grau, Tanja T; Bernd, Antje A; Zrenner, Eberhart E; Jägle, Herbert H; Renner, Agnes B AB; Kellner, Ulrich U; Rudolph, Günther G; Jacobson, Samuel G SG; Cideciyan, Artur V AV; Schaich, Simone S; Kohl, Susanne S; Wissinger, Bernd B
Publication Date: 2008-07
Variant appearance in text: ABCA4: 5917delG; V1973X