Publications:

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Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Npj Genomic Medicine

Schlottmann, Patricio G PG; Luna, José D JD; Labat, Natalia N; Yadarola, María Belén MB; Bainttein, Silvina S; Esposito, Evangelina E; Ibañez, Agustina A; Barbaro, Evangelina Ivón EI; Álvarez Mendiara, Alejandro A; Picotti, Carolina P CP; Chirino Misisian, Andrea A; Andreussi, Luciana L; Gras, Julieta J; Capalbo, Luciana L; Visotto, Mauro M; Dipierri, José E JE; Alcoba, Emilio E; Fernández Gabrielli, Laura L; Ávila, Silvia S; Aucar, María Emilia ME; Martin, Daniel M DM; Ormaechea, Gerardo Juan GJ; Inga, M Eugenia ME; Francone, Aníbal A AA; Charles, Martin M; Zompa, Tamara T; Pérez, Pablo Javier PJ; Lotersztein, Vanesa V; Nuova, Pedro J PJ; Canonero, Ivana B IB; Mahroo, Omar A OA; Michaelides, Michel M; Arno, Gavin G; Daich Varela, Malena M

Publication Date: 2023-05-22

Variant appearance in text: ABCA4: 3386G>T; Arg1129Leu

PubMed Link: 37217489

Variant Present in the following documents:

• 41525_2023_352_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2022-12-02

Variant appearance in text: ABCA4: 3386G>T; Arg1129Leu

PubMed Link: 36460718

Variant Present in the following documents:

• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Membrane Attack Complex Mediates Retinal Pigment Epithelium Cell Death in Stargardt Macular Degeneration.

Cells

Ng, Eunice Sze Yin ESY; Kady, Nermin N; Hu, Jane J; Dave, Arpita A; Jiang, Zhichun Z; Pei, Jacqueline J; Gorin, Michael B MB; Matynia, Anna A; Radu, Roxana A RA

Publication Date: 2022-11-02

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 36359858

Variant Present in the following documents:

• Main text
• cells-11-03462.pdf

View BVdb publication page

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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: 3386G>T; Arg1129Leu

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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Aggregated Genomic Data as Cohort-Specific Allelic Frequencies can Boost Variants and Genes Prioritization in Non-Solved Cases of Inherited Retinal Dystrophies.

International Journal Of Molecular Sciences

Iancu, Ionut-Florin IF; Perea-Romero, Irene I; Núñez-Moreno, Gonzalo G; de la Fuente, Lorena L; Romero, Raquel R; Ávila-Fernandez, Almudena A; Trujillo-Tiebas, María José MJ; Riveiro-Álvarez, Rosa R; Almoguera, Berta B; Martín-Mérida, Inmaculada I; Del Pozo-Valero, Marta M; Damián-Verde, Alejandra A; Cortón, Marta M; Ayuso, Carmen C; Minguez, Pablo P

Publication Date: 2022-07-29

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 35955564

Variant Present in the following documents:

• Main text
• ijms-23-08431.pdf

View BVdb publication page

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Genetic dissection of non-syndromic retinitis pigmentosa.

Indian Journal Of Ophthalmology

Bhardwaj, Aarti A; Yadav, Anshu A; Yadav, Manoj M; Tanwar, Mukesh M

Publication Date: 2022-07

Variant appearance in text: ABCA4: Arg1129Leu

PubMed Link: 35791117

Variant Present in the following documents:

• IJO-70-2355.pdf

View BVdb publication page

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Kinetics of Heterogeneous Background in Stargardt's Disease over Time.

Life (Basel, Switzerland)

Rodríguez-Bocanegra, Eduardo E; Biarnés, Marc M; Garcia, Míriam M; Ferraro, Lucía Lee LL; Fischer, Manuel Dominik MD; Monés, Jordi J

Publication Date: 2022-03-06

Variant appearance in text: ABCA4: Arg1129Leu

PubMed Link: 35330133

Variant Present in the following documents:

• life-12-00381.pdf

View BVdb publication page

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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

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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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

Publication Date: 2022-02-01

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Updating the Genetic Landscape of Inherited Retinal Dystrophies.

Frontiers In Cell And Developmental Biology

García Bohórquez, Belén B; Aller, Elena E; Rodríguez Muñoz, Ana A; Jaijo, Teresa T; García García, Gema G; Millán, José M JM

Publication Date: 2021

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 34327195

Variant Present in the following documents:

• Main text
• fcell-09-645600.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 3386G>T; Arg1129Leu; rs1801269

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 3386G>T

PubMed Link: 33841504

Variant Present in the following documents:

• Main text
• Data_Sheet_2.xlsx, sheet 4
• fgene-12-646058.pdf
• Data_Sheet_2.xlsx, sheet 2

View BVdb publication page

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Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.

Scientific Reports

Perea-Romero, Irene I; Gordo, Gema G; Iancu, Ionut F IF; Del Pozo-Valero, Marta M; Almoguera, Berta B; Blanco-Kelly, Fiona F; Carreño, Ester E; Jimenez-Rolando, Belen B; Lopez-Rodriguez, Rosario R; Lorda-Sanchez, Isabel I; Martin-Merida, Inmaculada I; Pérez de Ayala, Lucia L; Riveiro-Alvarez, Rosa R; Rodriguez-Pinilla, Elvira E; Tahsin-Swafiri, Saoud S; Trujillo-Tiebas, Maria J MJ; , ; , ; , ; Garcia-Sandoval, Blanca B; Minguez, Pablo P; Avila-Fernandez, Almudena A; Corton, Marta M; Ayuso, Carmen C

Publication Date: 2021-01-15

Variant appearance in text: ABCA4: Arg1129Leu

PubMed Link: 33452396

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81093.pdf

View BVdb publication page

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A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

International Journal Of Molecular Sciences

Martín-Sánchez, Marta M; Bravo-Gil, Nereida N; González-Del Pozo, María M; Méndez-Vidal, Cristina C; Fernández-Suárez, Elena E; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2020-12-08

Variant appearance in text: ABCA4: 3386G>T; Arg1129Leu

PubMed Link: 33302505

Variant Present in the following documents:

• Main text
• ijms-21-09355.pdf

View BVdb publication page

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: R1129L

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Functional analysis and classification of homozygous and hypomorphic ABCA4 variants associated with Stargardt macular degeneration.

Human Mutation

Curtis, Susan B SB; Molday, Laurie L LL; Garces, Fabian A FA; Molday, Robert S RS

Publication Date: 2020-11

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 32845050

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.

Acta Ophthalmologica

Diñeiro, Marta M; Capín, Raquel R; Cifuentes, Guadalupe Á GÁ; Fernández-Vega, Beatriz B; Villota, Eva E; Otero, Andrea A; Santiago, Adrián A; Pruneda, Patricia C PC; Castillo, David D; Viejo-Díaz, Mónica M; Hernando, Inés I; Durán, Noelia S NS; Álvarez, Rebeca R; Lago, Claudia G CG; Ordóñez, Gonzalo R GR; Fernández-Vega, Álvaro Á; Cabanillas, Rubén R; Cadiñanos, Juan J

Publication Date: 2020-12

Variant appearance in text: ABCA4: 3386G>T; Arg1129Leu

PubMed Link: 32483926

Variant Present in the following documents:

• Main text
• AOS-98-e1034-s006.xlsx, sheet 1

View BVdb publication page

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Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research

Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R

Publication Date: 2020-11

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 32278709

Variant Present in the following documents:

• Main text
• nihms-1627942.pdf

View BVdb publication page

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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: 3386G>T; Arg1129Leu; rs1801269

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Frontiers In Genetics

Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH

Publication Date: 2019

Variant appearance in text: ABCA4: R1129L

PubMed Link: 31543898

Variant Present in the following documents:

• Main text
• fgene-10-00773.pdf

View BVdb publication page

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A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies.

Scientific Reports

Ezquerra-Inchausti, Maitane M; Anasagasti, Ander A; Barandika, Olatz O; Garay-Aramburu, Gonzaga G; Galdós, Marta M; López de Munain, Adolfo A; Irigoyen, Cristina C; Ruiz-Ederra, Javier J

Publication Date: 2018-10-18

Variant appearance in text: ABCA4: 3386G>T; Arg1129Leu

PubMed Link: 30337596

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variants in the ABCA4 gene in a Brazilian population with Stargardt disease.

Molecular Vision

Salles, Mariana Vallim MV; Motta, Fabiana Louise FL; Martin, Renan R; Filippelli-Silva, Rafael R; Dias da Silva, Elton E; Varela, Patricia P; Costa, Kárita Antunes KA; Chiang, John PeiWen JP; Pesquero, João Bosco JB; Sallum, Juliana-Maria Ferraz JF

Publication Date: 2018

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 30093795

Variant Present in the following documents:

• Main text
• mv-v24-546.pdf

View BVdb publication page

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Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2018-07-27

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 30060493

Variant Present in the following documents:

• Main text

View BVdb publication page

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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; , ; ,

Publication Date: 2019-03

Variant appearance in text: ABCR: 3386G>T

PubMed Link: 29925512

Variant Present in the following documents:

• Main text
• bjophthalmol-2018-312064supp004.pdf
• bjophthalmol-2018-312064supp005.pdf
• bjophthalmol-2018-312064.pdf

View BVdb publication page

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Retinal phenotypic characterization of patients with ABCA4 retinopathydue to the homozygous p.Ala1773Val mutation.

Molecular Vision

López-Rubio, Salvador S; Chacon-Camacho, Oscar F OF; Matsui, Rodrigo R; Guadarrama-Vallejo, Dalia D; Astiazarán, Mirena C MC; Zenteno, Juan C JC

Publication Date: 2018

Variant appearance in text: STGD1: R1129L

PubMed Link: 29422768

Variant Present in the following documents:

• Main text

View BVdb publication page

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Full-field ERG as a predictor of the natural course of ABCA4-associated retinal degenerations.

Molecular Vision

Schroeder, Marion M; Kjellström, Ulrika U

Publication Date: 2018

Variant appearance in text: STGD: 3386G>T

PubMed Link: 29386879

Variant Present in the following documents:

• Main text
• mv-v24-1.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: ABCA4: 3386G>T; rs1801269

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: 3386G>T; R1129L

PubMed Link: 28327576

Variant Present in the following documents:

• Main text

View BVdb publication page

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Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Scientific Reports

Bravo-Gil, Nereida N; González-Del Pozo, María M; Martín-Sánchez, Marta M; Méndez-Vidal, Cristina C; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2017-02-03

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 28157192

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing.

Plos One

de Castro-Miró, Marta M; Tonda, Raul R; Escudero-Ferruz, Paula P; Andrés, Rosa R; Mayor-Lorenzo, Andrés A; Castro, Joaquín J; Ciccioli, Marcela M; Hidalgo, Daniel A DA; Rodríguez-Ezcurra, Juan José JJ; Farrando, Jorge J; Pérez-Santonja, Juan J JJ; Cormand, Bru B; Marfany, Gemma G; Gonzàlez-Duarte, Roser R

Publication Date: 2016

Variant appearance in text: ABCA4: 3386G>T; R1129L

PubMed Link: 28005958

Variant Present in the following documents:

• Main text
• pone.0168966.pdf
• pone.0168966.s005.xls, sheet 1

View BVdb publication page

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Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

Scientific Reports

Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Romero-Pérez, Laura L; González-del Pozo, María M; Rodríguez-de la Rúa, Enrique E; Dopazo, Joaquín J; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2016-04-01

Variant appearance in text: ABCA4: R1129L

PubMed Link: 27032803

Variant Present in the following documents:

• Main text
• srep23910.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: STGD1: R1129L; rs1801269

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front.

Investigative Ophthalmology & Visual Science

Cideciyan, Artur V AV; Swider, Malgorzata M; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG

Publication Date: 2015-09

Variant appearance in text: ABCA4: R1129L

PubMed Link: 26377081

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: ABCA4: R1129L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.

Bmc Genetics

Méndez-Vidal, Cristina C; Bravo-Gil, Nereida N; González-Del Pozo, María M; Vela-Boza, Alicia A; Dopazo, Joaquín J; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2014-12-14

Variant appearance in text: ABCA4: R1129L

PubMed Link: 25494902

Variant Present in the following documents:

• Main text
• 12863_2014_Article_143.pdf

View BVdb publication page

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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

Publication Date: 2014-12-20

Variant appearance in text: ABCA4: R1129L

PubMed Link: 25082829

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2014-10

Variant appearance in text: STGD1: 3386G>T

PubMed Link: 25066811

Variant Present in the following documents:

• Main text
• humu0035-1187.pdf

View BVdb publication page

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Outcome of ABCA4 disease-associated alleles in autosomal recessive retinal dystrophies: retrospective analysis in 420 Spanish families.

Ophthalmology

Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Zernant, Jana J; Aguirre-Lamban, Jana J; Cantalapiedra, Diego D; Avila-Fernandez, Almudena A; Gimenez, Ascension A; Lopez-Molina, Maria-Isabel MI; Garcia-Sandoval, Blanca B; Blanco-Kelly, Fiona F; Corton, Marta M; Tatu, Sorina S; Fernandez-San Jose, Patricia P; Trujillo-Tiebas, Maria-Jose MJ; Ramos, Carmen C; Allikmets, Rando R; Ayuso, Carmen C

Publication Date: 2013-11

Variant appearance in text: ABCA4: 3386G>T

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.

Protein Science : A Publication Of The Protein Society

Kelly, Libusha L; Fukushima, Hisayo H; Karchin, Rachel R; Gow, Jason M JM; Chinn, Leslie W LW; Pieper, Ursula U; Segal, Mark R MR; Kroetz, Deanna L DL; Sali, Andrej A

Publication Date: 2010-11

Variant appearance in text: STGD1: R1129L

PubMed Link: 20799350

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2010-10-01

Variant appearance in text: ABCA4: Arg1129Leu

PubMed Link: 20647261

Variant Present in the following documents:

• supp_ddq284_ddq284supp_Table.xls, sheet 1

View BVdb publication page

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ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis.

Molecular Vision

Maia-Lopes, Susana S; Aguirre-Lamban, Jana J; Castelo-Branco, Miguel M; Riveiro-Alvarez, Rosa R; Ayuso, Carmen C; Silva, Eduardo Duarte ED

Publication Date: 2009

Variant appearance in text: STGD: Arg1129Leu

PubMed Link: 19365591

Variant Present in the following documents:

• Main text

View BVdb publication page

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The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.

Biochimica Et Biophysica Acta

Molday, Robert S RS; Zhong, Ming M; Quazi, Faraz F

Publication Date: 2009-07

Variant appearance in text: ABCA4: R1129L

PubMed Link: 19230850

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis of the ABCA4 gene for reliable detection of allelic variations in Spanish patients: identification of 21 novel variants.

The British Journal Of Ophthalmology

Aguirre-Lamban, J J; Riveiro-Alvarez, R R; Maia-Lopes, S S; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Villaverde-Montero, C C; Trujillo-Tiebas, M J MJ; Ramos, C C; Ayuso, C C

Publication Date: 2009-05

Variant appearance in text: STGD: 3386G>T

PubMed Link: 19028736

Variant Present in the following documents:

• Main text

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Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease.

The British Journal Of Ophthalmology

Riveiro-Alvarez, R R; Aguirre-Lamban, J J; Lopez-Martinez, M Angel MA; Trujillo-Tiebas, M Jose MJ; Cantalapiedra, D D; Vallespin, E E; Avila-Fernandez, A A; Ramos, C C; Ayuso, C C

Publication Date: 2009-10

Variant appearance in text: STGD: 3386G>T

PubMed Link: 18977788

Variant Present in the following documents:

• Main text

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Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.

Journal Of The Optical Society Of America. A, Optics, Image Science, And Vision

Cideciyan, Artur V AV; Swider, Malgorzata M; Aleman, Tomas S TS; Roman, Marisa I MI; Sumaroka, Alexander A; Schwartz, Sharon B SB; Stone, Edwin M EM; Jacobson, Samuel G SG

Publication Date: 2007-05

Variant appearance in text: STGD: R1129L

PubMed Link: 17429493

Variant Present in the following documents:

• Main text

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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

Publication Date: 2007-03

Variant appearance in text: ABCA4: R1129L

PubMed Link: 17325179

Variant Present in the following documents:

• Main text

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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

Molecular Vision

Riveiro-Alvarez, R R; Valverde, D D; Lorda-Sanchez, I I; Trujillo-Tiebas, M J MJ; Cantalapiedra, D D; Vallespin, E E; Aguirre-Lamban, J J; Ramos, C C; Ayuso, C C

Publication Date: 2007-01-26

Variant appearance in text: STGD: 3386G>T

PubMed Link: 17277736

Variant Present in the following documents:

• Main text
• mv-v13-96.pdf

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