Publications:

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Structural and Pathogenic Impacts of ABCA4 Variants in Retinal Degenerations-An In-Silico Study.

International Journal Of Molecular Sciences

Cevik, Senem S; Biswas, Subhasis B SB; Biswas-Fiss, Esther E EE

Publication Date: 2023-04-14

Variant appearance in text: ABCA4: R653C

PubMed Link: 37108442

Variant Present in the following documents:

• Main text
• ijms-24-07280.pdf

View BVdb publication page

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Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt Disease.

The Journal Of Biological Chemistry

Xu, Tongzhou T; Molday, LaurieL L; Molday, RobertS R

Publication Date: 2023-03-15

Variant appearance in text: ABCA4: R653C

PubMed Link: 36931393

Variant Present in the following documents:

• Main text
• main.pdf

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: 1957C>T

PubMed Link: 36460718

Variant Present in the following documents:

• Main text
• 41598_2022_Article_24636.pdf
• 41598_2022_24636_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic characteristics of 234 Italian patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Falsini, Benedetto B; Placidi, Giorgio G; De Siena, Elisa E; Chiurazzi, Pietro P; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Ziccardi, Lucia L; Parisi, Vincenzo V; Iarossi, Giancarlo G; Percio, Marcella M; Piteková, Barbora B; Marceddu, Giuseppe G; Maltese, Paolo Enrico PE; Bertelli, Matteo M

Publication Date: 2022-03-08

Variant appearance in text: ABCA4: 1957C>T; Arg653Cys; rs61749420

PubMed Link: 35260635

Variant Present in the following documents:

• 41598_2022_7618_MOESM1_ESM.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: 1957C>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: 1957C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 1957C>T

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

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Comparisons Among Optical Coherence Tomography and Fundus Autofluorescence Modalities as Measurements of Atrophy in ABCA4-Associated Disease.

Translational Vision Science & Technology

Parmann, Rait R; Tsang, Stephen H SH; Zernant, Jana J; Allikmets, Rando R; Greenstein, Vivienne C VC; Sparrow, Janet R JR

Publication Date: 2022-01-03

Variant appearance in text: ABCA4: 1957C>T

PubMed Link: 35089312

Variant Present in the following documents:

• Main text
• tvst-11-1-36.pdf

View BVdb publication page

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A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.

Jci Insight

Lee, Winston W; Zernant, Jana J; Su, Pei-Yin PY; Nagasaki, Takayuki T; Tsang, Stephen H SH; Allikmets, Rando R

Publication Date: 2022-01-25

Variant appearance in text: ABCA4: Arg653Cys

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.pdf
• jciinsight-7-156154-s174.xlsx, sheet 1

View BVdb publication page

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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

Publication Date: 2021-10-08

Variant appearance in text: ABCA4: R653C

PubMed Link: 34625547

Variant Present in the following documents:

• Main text
• 41467_2021_Article_26161.pdf
• 41467_2021_26161_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Structural basis of substrate recognition and translocation by human ABCA4.

Nature Communications

Xie, Tian T; Zhang, Zike Z; Fang, Qi Q; Du, Bowen B; Gong, Xin X

Publication Date: 2021-06-22

Variant appearance in text: ABCA4: R653C

PubMed Link: 34158497

Variant Present in the following documents:

• Main text
• 41467_2021_24194_MOESM1_ESM.pdf
• 41467_2021_Article_24194.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: 1957C>T; Arg653Cys; rs61749420

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: STGD: 1957C>T

PubMed Link: 33841504

Variant Present in the following documents:

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

View BVdb publication page

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Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.

International Journal Of Molecular Sciences

Maggi, Jordi J; Koller, Samuel S; Bähr, Luzy L; Feil, Silke S; Kivrak Pfiffner, Fatma F; Hanson, James V M JVM; Maspoli, Alessandro A; Gerth-Kahlert, Christina C; Berger, Wolfgang W

Publication Date: 2021-02-03

Variant appearance in text: ABCA4: 1957C>T

PubMed Link: 33546218

Variant Present in the following documents:

• Main text
• ijms-22-01508.pdf

View BVdb publication page

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Retinal Pigment Epithelium Atrophy in Recessive Stargardt Disease as Measured by Short-Wavelength and Near-Infrared Autofluorescence.

Translational Vision Science & Technology

Jauregui, Ruben R; Nuzbrokh, Yan Y; Su, Pei-Yin PY; Zernant, Jana J; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2021-01

Variant appearance in text: ABCA4: 1957C>T; R653C

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.pdf

View BVdb publication page

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Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.

International Journal Of Molecular Sciences

Garces, Fabian A FA; Scortecci, Jessica F JF; Molday, Robert S RS

Publication Date: 2020-12-27

Variant appearance in text: ABCA4: R653C

PubMed Link: 33375396

Variant Present in the following documents:

• Main text
• ijms-22-00185.pdf

View BVdb publication page

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58th Annual Symposium of the International Society for Clinical Electrophysiology of Vision (ISCEV 2020) : 14-16 September 2020.

Documenta Ophthalmologica. Advances In Ophthalmology

Publication Date: 2020-09

Variant appearance in text: ABCA4: R653C

PubMed Link: 32915376

Variant Present in the following documents:

• 10633_2020_Article_9789.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: R653C

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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Progressive Choriocapillaris Impairment in ABCA4 Maculopathy Is Secondary to Retinal Pigment Epithelium Atrophy.

Investigative Ophthalmology & Visual Science

Jauregui, Ruben R; Cho, Ahra A; Lee, Winston W; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-04-09

Variant appearance in text: ABCA4: 1957C>T; R653C

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

View BVdb publication page

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Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy.

Nutrients

Piccardi, Marco M; Fadda, Antonello A; Martelli, Francesco F; Marangoni, Dario D; Magli, Adriano A; Minnella, Angelo M AM; Bertelli, Matteo M; Di Marco, Stefano S; Bisti, Silvia S; Falsini, Benedetto B

Publication Date: 2019-10-15

Variant appearance in text: ABCA4: R653C

PubMed Link: 31618812

Variant Present in the following documents:

• nutrients-11-02461.pdf

View BVdb publication page

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: ABCA4: 1957C>T; Arg653Cys

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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Multi-platform imaging in ABCA4-Associated Disease.

Scientific Reports

Chen, Lijuan L; Lee, Winston W; de Carvalho, Jose Ronaldo Lima JRL; Chang, Stanley S; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2019-04-23

Variant appearance in text: ABCA4: R653C

PubMed Link: 31015497

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42772.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: ABCA4: 1957C>T; Arg653Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Cross-Sectional and Longitudinal Assessment of the Ellipsoid Zone in Childhood-Onset Stargardt Disease.

Translational Vision Science & Technology

Tanna, Preena P; Georgiou, Michalis M; Strauss, Rupert W RW; Ali, Naser N; Kumaran, Neruban N; Kalitzeos, Angelos A; Fujinami, Kaoru K; Michaelides, Michel M

Publication Date: 2019-03

Variant appearance in text: STGD1: 1957C>T

PubMed Link: 30834176

Variant Present in the following documents:

• Main text
• i2164-2591-8-2-1.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: 1957C>T

PubMed Link: 30337596

Variant Present in the following documents:

• Main text

View BVdb publication page

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CLINICAL CHARACTERIZATION OF STARGARDT DISEASE PATIENTS WITH THE p.N1868I ABCA4 MUTATION.

Retina (Philadelphia, Pa.)

Collison, Frederick T FT; Lee, Winston W; Fishman, Gerald A GA; Park, Jason C JC; Zernant, Jana J; McAnany, J Jason JJ; Allikmets, Rando R

Publication Date: 2019-12

Variant appearance in text: ABCA4: 1957C>T; R653C

PubMed Link: 30204727

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: 1957C>T

PubMed Link: 29925512

Variant Present in the following documents:

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

View BVdb publication page

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Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Investigative Ophthalmology & Visual Science

Paavo, Maarjaliis M; Zhao, Jin J; Kim, Hye Jin HJ; Lee, Winston W; Zernant, Jana J; Cai, Carolyn C; Allikmets, Rando R; Tsang, Stephen H SH; Sparrow, Janet R JR

Publication Date: 2018-05-01

Variant appearance in text: STGD1: R653C

PubMed Link: 29847651

Variant Present in the following documents:

• i1552-5783-59-6-2459.pdf

View BVdb publication page

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Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.

Journal Of Neuroscience Research

Paavo, Maarjaliis M; Lee, Winston W; Allikmets, Rando R; Tsang, Stephen S; Sparrow, Janet R JR

Publication Date: 2019-01

Variant appearance in text: ABCA4: R653C

PubMed Link: 29701254

Variant Present in the following documents:

• Main text

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: 1957C>T; rs61749420

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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A Comparison of En Face Optical Coherence Tomography and Fundus Autofluorescence in Stargardt Disease.

Investigative Ophthalmology & Visual Science

Greenstein, Vivienne C VC; Nunez, Jason J; Lee, Winston W; Schuerch, Kaspar K; Fortune, Brad B; Tsang, Stephen H SH; Allikmets, Rando R; Sparrow, Janet R JR; Hood, Donald C DC

Publication Date: 2017-10-01

Variant appearance in text: ABCA4: R653C

PubMed Link: 29049723

Variant Present in the following documents:

• i1552-5783-58-12-5227.pdf

View BVdb publication page

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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

Publication Date: 2017-06

Variant appearance in text: ABCA4: 1957C>T

PubMed Link: 28446513

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2017

Variant appearance in text: ABCA4: 1957C>T

PubMed Link: 28355279

Variant Present in the following documents:

• Main text

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: 1957C>T; R653C

PubMed Link: 28327576

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2017-01-01

Variant appearance in text: STGD: 1957C>T

PubMed Link: 28118664

Variant Present in the following documents:

• iovs-57-15-69_s04.pdf
• iovs-57-15-69_s05.pdf

View BVdb publication page

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Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.

Molecular Vision

Oishi, Maho M; Oishi, Akio A; Gotoh, Norimoto N; Ogino, Ken K; Higasa, Koichiro K; Iida, Kei K; Makiyama, Yukiko Y; Morooka, Satoshi S; Matsuda, Fumihiko F; Yoshimura, Nagahisa N

Publication Date: 2016

Variant appearance in text: ABCA4: 1957C>T; rs61749420

PubMed Link: 26957898

Variant Present in the following documents:

• Main text

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: R653C

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Assessment of estimated retinal atrophy progression in Stargardt macular dystrophy using spectral-domain optical coherence tomography.

The British Journal Of Ophthalmology

Strauss, Rupert W RW; Muñoz, Beatriz B; Wolfson, Yulia Y; Sophie, Raafay R; Fletcher, Emily E; Bittencourt, Millena G MG; Scholl, Hendrik P N HP

Publication Date: 2016-07

Variant appearance in text: ABCA4: 1957C>T

PubMed Link: 26568636

Variant Present in the following documents:

• bjophthalmol-2015-307035-s1.pdf

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: R653C

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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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: 1957C>T

PubMed Link: 25312043

Variant Present in the following documents:

• Main text
• nihms693250.pdf
• NIHMS693250-supplement-Table_4.pdf

View BVdb publication page

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Macular function and morphologic features in juvenile stargardt disease: longitudinal study.

Ophthalmology

Testa, Francesco F; Melillo, Paolo P; Di Iorio, Valentina V; Orrico, Ada A; Attanasio, Marcella M; Rossi, Settimio S; Simonelli, Francesca F

Publication Date: 2014-12

Variant appearance in text: ABCA4: R653C

PubMed Link: 25097154

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 1957C>T; R653C; rs61749420

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

Plos One

Huang, Li L; Zhang, Qingyan Q; Li, Shiqiang S; Guan, Liping L; Xiao, Xueshan X; Zhang, Jianguo J; Jia, Xiaoyun X; Sun, Wenmin W; Zhu, Zhihong Z; Gao, Yang Y; Yin, Ye Y; Wang, Panfeng P; Guo, Xiangming X; Wang, Jun J; Zhang, Qingjiong Q

Publication Date: 2013

Variant appearance in text: ABCA4: R653C

PubMed Link: 23776498

Variant Present in the following documents:

• Main text
• pone.0065546.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: STGD: 1957C>T

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy.

Investigative Ophthalmology & Visual Science

Testa, Francesco F; Rossi, Settimio S; Sodi, Andrea A; Passerini, Ilaria I; Di Iorio, Valentina V; Della Corte, Michele M; Banfi, Sandro S; Surace, Enrico Maria EM; Menchini, Ugo U; Auricchio, Alberto A; Simonelli, Francesca F

Publication Date: 2012-07-03

Variant appearance in text: STGD: R653C

PubMed Link: 22661472

Variant Present in the following documents:

• Main text

View BVdb publication page

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Stargardt macular dystrophy: common ABCA4 mutations in South Africa--establishment of a rapid genetic test and relating risk to patients.

Molecular Vision

Roberts, Lisa J LJ; Nossek, Christel A CA; Greenberg, L Jacquie LJ; Ramesar, Rajkumar S RS

Publication Date: 2012

Variant appearance in text: ABCR: Arg653Cys

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

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: Arg653Cys

PubMed Link: 20647261

Variant Present in the following documents:

• supp_ddq284_ddq284supp_Table.xls, sheet 1

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A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

American Journal Of Human Genetics

Rivera, A A; White, K K; Stöhr, H H; Steiner, K K; Hemmrich, N N; Grimm, T T; Jurklies, B B; Lorenz, B B; Scholl, H P HP; Apfelstedt-Sylla, E E; Weber, B H BH

Publication Date: 2000-10

Variant appearance in text: STGD: R653C

PubMed Link: 10958763

Variant Present in the following documents:

• Main text

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