Publications:

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De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: ABCA4: 1222C>T; Arg408*

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s004.xlsx, sheet 1

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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: 1222C>T; Arg408*

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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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: 1222C>T; Arg408*

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.

Investigative Ophthalmology & Visual Science

Tian, Lu L; Chen, Chunjie C; Song, Yuning Y; Zhang, Xiaohui X; Xu, Ke K; Xie, Yue Y; Jin, Zi-Bing ZB; Li, Yang Y

Publication Date: 2022-06-01

Variant appearance in text: STGD: 1222C>T

PubMed Link: 35657619

Variant Present in the following documents:

• iovs-63-6-5_s002.xlsx, sheet 2
• iovs-63-6-5_s002.xlsx, sheet 1

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: Arg408X

PubMed Link: 35330133

Variant Present in the following documents:

• life-12-00381.pdf

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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: 1222C>T; Arg408*; rs61748550

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: 1222C>T

PubMed Link: 35119454

Variant Present in the following documents:

• iovs-63-2-11_s003.pdf

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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: 1222C>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: 1222C>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: 1222C>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 phase I clinical trial of human embryonic stem cell-derived retinal pigment epithelial cells for early-stage Stargardt macular degeneration: 5-years' follow-up.

Cell Proliferation

Li, Shi-Ying SY; Liu, Yong Y; Wang, Lei L; Wang, Fang F; Zhao, Tong-Tao TT; Li, Qi-You QY; Xu, Hai-Wei HW; Meng, Xiao-Hong XH; Hao, Jie J; Zhou, Qi Q; Wang, Liu L; Yin, Zheng-Qin ZQ

Publication Date: 2021-09

Variant appearance in text: ABCA4: Arg408Ter

PubMed Link: 34347352

Variant Present in the following documents:

• Main text

View BVdb publication page

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Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.

Nature Communications

He, Chen C; Xu, Ke K; Zhu, Xiaoyan X; Dunphy, Paige S PS; Gudenas, Brian B; Lin, Wenwei W; Twarog, Nathaniel N; Hover, Laura D LD; Kwon, Chang-Hyuk CH; Kasper, Lawryn H LH; Zhang, Junyuan J; Li, Xiaoyu X; Dalton, James J; Jonchere, Barbara B; Mercer, Kimberly S KS; Currier, Duane G DG; Caufield, William W; Wang, Yingzhe Y; Xie, Jia J; Broniscer, Alberto A; Wetmore, Cynthia C; Upadhyaya, Santhosh A SA; Qaddoumi, Ibrahim I; Klimo, Paul P; Boop, Frederick F; Gajjar, Amar A; Zhang, Jinghui J; Orr, Brent A BA; Robinson, Giles W GW; Monje, Michelle M; Freeman Iii, Burgess B BB; Roussel, Martine F MF; Northcott, Paul A PA; Chen, Taosheng T; Rankovic, Zoran Z; Wu, Gang G; Chiang, Jason J; Tinkle, Christopher L CL; Shelat, Anang A AA; Baker, Suzanne J SJ

Publication Date: 2021-07-02

Variant appearance in text: ABCA4: R408*

PubMed Link: 34215733

Variant Present in the following documents:

• 41467_2021_24168_MOESM5_ESM.xlsx, sheet 7

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: 1222C>T; Arg408Ter; rs61748550

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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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: 1222C>T; R408*

PubMed Link: 33505770

Variant Present in the following documents:

• tvst-10-1-3_s002.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: R408X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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: 1222C>T; Arg408Ter

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

View BVdb publication page

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An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Translational Vision Science & Technology

Wang, Panfeng P; Li, Shiqiang S; Sun, Wenming W; Xiao, Xueshan X; Jia, Xiaoyun X; Liu, Mengchu M; Xu, Lieqiang L; Long, Yuxi Y; Zhang, Qingjiong Q

Publication Date: 2019-03

Variant appearance in text: ABCA4: Arg408*

PubMed Link: 31106028

Variant Present in the following documents:

• tvst-08-02-12_s02.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: R408*

PubMed Link: 31015497

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42772.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: 1222C>T

PubMed Link: 30771335

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: 1222C>T; rs61748550

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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The Rapid-Onset Chorioretinopathy Phenotype of ABCA4 Disease.

Ophthalmology

Tanaka, Koji K; Lee, Winston W; Zernant, Jana J; Schuerch, Kaspar K; Ciccone, Lyam L; Tsang, Stephen H SH; Sparrow, Janet R JR; Allikmets, Rando R

Publication Date: 2018-01

Variant appearance in text: ABCA4: 1222C>T

PubMed Link: 28947085

Variant Present in the following documents:

• Main text

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: 1222C>T

PubMed Link: 28446513

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: 1222C>T

PubMed Link: 28157192

Variant Present in the following documents:

• Main text
• srep41937.pdf

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: 1222C>T

PubMed Link: 26568636

Variant Present in the following documents:

• bjophthalmol-2015-307035-s1.pdf

View BVdb publication page

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Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Scientific Reports

Li, Chenguang C; Gao, Zhibo Z; Li, Fei F; Li, Xiangchun X; Sun, Yihua Y; Wang, Mengyun M; Li, Dan D; Wang, Rui R; Li, Fuming F; Fang, Rong R; Pan, Yunjian Y; Luo, Xiaoyang X; He, Jing J; Zheng, Liangtao L; Xia, Jufeng J; Qiu, Lixin L; He, Jun J; Ye, Ting T; Zhang, Ruoxin R; He, Minghui M; Zhu, Meiling M; Hu, Haichuan H; Shi, Tingyan T; Zhou, Xiaoyan X; Sun, Menghong M; Tian, Shilin S; Zhou, Yong Y; Wang, Qiaoxiu Q; Chen, Longyun L; Yin, Guangliang G; Lu, Jingya J; Wu, Renhua R; Guo, Guangwu G; Li, Yingrui Y; Hu, Xueda X; Li, Lin L; Asan, ; Wang, Qin Q; Yin, Ye Y; Feng, Qiang Q; Wang, Bin B; Wang, Hang H; Wang, Mingbang M; Yang, Xiaonan X; Zhang, Xiuqing X; Yang, Huanming H; Jin, Li L; Wang, Cun-Yu CY; Ji, Hongbin H; Chen, Haiquan H; Wang, Jun J; Wei, Qingyi Q

Publication Date: 2015-10-27

Variant appearance in text: ABCA4: R408X; rs61748550

PubMed Link: 26503331

Variant Present in the following documents:

• srep14237-s2.xls, sheet 1

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: 1222C>T; R408*

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

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: 1222C>T

PubMed Link: 23755871

Variant Present in the following documents:

• Main text

View BVdb publication page

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