Publications:

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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: 4918C>T; Arg1640Trp

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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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

Publication Date: 2021-03

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 36246008

Variant Present in the following documents:

• mmc3.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: 4918C>T; Arg1640Trp

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.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: 4918C>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: 4918C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

View BVdb publication page

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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

Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 34945039

Variant Present in the following documents:

• Main text
• jcm-10-05742.pdf

View BVdb publication page

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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

Publication Date: 2021-12-08

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 34945039

Variant Present in the following documents:

• Main text
• jcm-10-05742.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: Arg1640Trp

PubMed Link: 34874912

Variant Present in the following documents:

• jciinsight-7-156154.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: 4918C>T; Arg1640Trp; rs61751404

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: 4918C>T; Arg1640Trp

PubMed Link: 33841504

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 2

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: R1640W

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ABCA4: 4918C>T; Arg1640Trp; rs61751404

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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: R1640W

PubMed Link: 32298433

Variant Present in the following documents:

• iovs-61-4-13_s001.pdf

View BVdb publication page

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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

Publication Date: 2019-11-21

Variant appearance in text: STGD: 4918C>T

PubMed Link: 31766579

Variant Present in the following documents:

• Main text
• genes-10-00959.pdf

View BVdb publication page

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Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Méjécase, Cécile C; Varin, Juliette J; Wohlschlegel, Juliette J; Dhaenens, Claire-Marie CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2019-10-11

Variant appearance in text: STGD1: Arg1640Trp

PubMed Link: 31614660

Variant Present in the following documents:

• Main text
• ijms-20-05053.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: 4918C>T; Arg1640Trp; rs61751404

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: 4918C>T; Arg1640Trp; rs61751404

PubMed Link: 31543898

Variant Present in the following documents:

• Table_2.xls, sheet 1

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: 4918C>T; Arg1640Trp

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.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: 4918C>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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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

Publication Date: 2019-06

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 30771335

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

Scientific Reports

Jespersgaard, Cathrine C; Fang, Mingyan M; Bertelsen, Mette M; Dang, Xiao X; Jensen, Hanne H; Chen, Yulan Y; Bech, Niels N; Dai, Lanlan L; Rosenberg, Thomas T; Zhang, Jianguo J; Møller, Lisbeth Birk LB; Tümer, Zeynep Z; Brøndum-Nielsen, Karen K; Grønskov, Karen K

Publication Date: 2019-02-04

Variant appearance in text: ABCA4: 4918C>T; Arg1640Trp

PubMed Link: 30718709

Variant Present in the following documents:

• 41598_2018_38007_MOESM2_ESM.xlsx, sheet 1

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: 4918C>T

PubMed Link: 30060493

Variant Present in the following documents:

• Main text
• ijms-19-02196.pdf

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: 4918C>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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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

Publication Date: 2018-11

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 29884405

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutation Spectrum of the ABCA4 Gene in a Greek Cohort with Stargardt Disease: Identification of Novel Mutations and Evidence of Three Prevalent Mutated Alleles.

Journal Of Ophthalmology

Smaragda, Kamakari K; Vassiliki, Kokkinou K; George, Koutsodontis K; Polixeni, Stamatiou S; Christoforos, Giatzakis G; Anastasios, Anastasakis A; Minas, Aslanides Ioannis AI; Stavrenia, Koukoula K; Theoni, Panagiotoglou P; Ioannis, Datseris D; Miltiadis, Tsilimbaris K TK

Publication Date: 2018

Variant appearance in text: STGD1: 4918C>T

PubMed Link: 29854428

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2018-08

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 29848554

Variant Present in the following documents:

• Main text
• MCS002733Zer.pdf

View BVdb publication page

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Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific Reports

Birtel, Johannes J; Eisenberger, Tobias T; Gliem, Martin M; Müller, Philipp L PL; Herrmann, Philipp P; Betz, Christian C; Zahnleiter, Diana D; Neuhaus, Christine C; Lenzner, Steffen S; Holz, Frank G FG; Mangold, Elisabeth E; Bolz, Hanno J HJ; Charbel Issa, Peter P

Publication Date: 2018-03-19

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 29555955

Variant Present in the following documents:

• 41598_2018_22096_MOESM1_ESM.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: 4918C>T; rs61751404

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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Towards Treatment of Stargardt Disease: Workshop Organized and Sponsored by the Foundation Fighting Blindness.

Translational Vision Science & Technology

Sears, Avery E AE; Bernstein, Paul S PS; Cideciyan, Artur V AV; Hoyng, Carel C; Charbel Issa, Peter P; Palczewski, Krzysztof K; Rosenfeld, Philip J PJ; Sadda, SriniVas S; Schraermeyer, Ulrich U; Sparrow, Janet R JR; Washington, Ilyas I; Scholl, Hendrik P N HPN

Publication Date: 2017-09

Variant appearance in text: STGD1: R1640W

PubMed Link: 28920007

Variant Present in the following documents:

• Main text
• i2164-2591-6-5-6.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: 4918C>T

PubMed Link: 28446513

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: 4918C>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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Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options.

The British Journal Of Ophthalmology

Tanna, Preena P; Strauss, Rupert W RW; Fujinami, Kaoru K; Michaelides, Michel M

Publication Date: 2017-01

Variant appearance in text: ABCA4: Arg1640Trp

PubMed Link: 27491360

Variant Present in the following documents:

• Main text
• bjophthalmol-2016-308823.pdf

View BVdb publication page

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Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ophthalmology

Ellingford, Jamie M JM; Barton, Stephanie S; Bhaskar, Sanjeev S; Williams, Simon G SG; Sergouniotis, Panagiotis I PI; O'Sullivan, James J; Lamb, Janine A JA; Perveen, Rahat R; Hall, Georgina G; Newman, William G WG; Bishop, Paul N PN; Roberts, Stephen A SA; Leach, Rick R; Tearle, Rick R; Bayliss, Stuart S; Ramsden, Simon C SC; Nemeth, Andrea H AH; Black, Graeme C M GC

Publication Date: 2016-05

Variant appearance in text: ABCA4: 4918C>T

PubMed Link: 26872967

Variant Present in the following documents:

• mmc8.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: R1640W

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: R1640W

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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Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease.

Biomed Research International

Battu, Rajani R; Verma, Anshuman A; Hariharan, Ramesh R; Krishna, Shuba S; Kiran, Ravi R; Jacob, Jemima J; Ganapathy, Aparna A; Ramprasad, Vedam L VL; Kumaramanickavel, Govindasamy G; Jeyabalan, Nallathambi N; Ghosh, Arkasubhra A

Publication Date: 2015

Variant appearance in text: STGD: 4918C>T

PubMed Link: 25922843

Variant Present in the following documents:

• Main text
• BMRI2015-940864.pdf

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: 4918C>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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The external limiting membrane in early-onset Stargardt disease.

Investigative Ophthalmology & Visual Science

Lee, Winston W; Nõupuu, Kalev K; Oll, Maris M; Duncker, Tobias T; Burke, Tomas T; Zernant, Jana J; Bearelly, Srilaxmi S; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2014-08-19

Variant appearance in text: ABCA4: R1640W

PubMed Link: 25139735

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.

Investigative Ophthalmology & Visual Science

Alapati, Akhila A; Goetz, Kerry K; Suk, John J; Navani, Mili M; Al-Tarouti, Amani A; Jayasundera, Thiran T; Tumminia, Santa J SJ; Lee, Pauline P; Ayyagari, Radha R

Publication Date: 2014-07-31

Variant appearance in text: ABCA4: 4918C>T; rs61751404

PubMed Link: 25082885

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: ABCA4: 4918C>T

PubMed Link: 25066811

Variant Present in the following documents:

• Main text
• humu0035-1187.pdf

View BVdb publication page

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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

Publication Date: 2014-05-01

Variant appearance in text: STGD1: R1640W

PubMed Link: 24677105

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinct characteristics of inferonasal fundus autofluorescence patterns in stargardt disease and retinitis pigmentosa.

Investigative Ophthalmology & Visual Science

Duncker, Tobias T; Lee, Winston W; Tsang, Stephen H SH; Greenberg, Jonathan P JP; Zernant, Jana J; Allikmets, Rando R; Sparrow, Janet R JR

Publication Date: 2013-10-17

Variant appearance in text: STGD1: R1640W

PubMed Link: 24071957

Variant Present in the following documents:

• Main text

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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: 4918C>T

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

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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: Arg1640Trp

PubMed Link: 22328824

Variant Present in the following documents:

• Main text
• mv-v18-280.pdf

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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

Publication Date: 2011-10-10

Variant appearance in text: ABCA4: R1640W

PubMed Link: 21873672

Variant Present in the following documents:

• Main text

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