Publications:

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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: 2972G>T; Gly991Val

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

View BVdb publication page

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Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

Scientific Reports

Rodriguez-Muñoz, Ana A; Liquori, Alessandro A; García-Bohorquez, Belén B; Jaijo, Teresa T; Aller, Elena E; Millán, José M JM; García-García, Gema G

Publication Date: 2022-01-07

Variant appearance in text: ABCA4: 2972G>T

PubMed Link: 34996991

Variant Present in the following documents:

• Main text
• 41598_2021_3925_MOESM1_ESM.pdf
• 41598_2021_Article_3925.pdf

View BVdb publication page

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Functional assays of non-canonical splice-site variants in inherited retinal dystrophies genes.

Scientific Reports

Rodriguez-Muñoz, Ana A; Liquori, Alessandro A; García-Bohorquez, Belén B; Jaijo, Teresa T; Aller, Elena E; Millán, José M JM; García-García, Gema G

Publication Date: 2022-01-07

Variant appearance in text: ABCA4: 2972G>T

PubMed Link: 34996991

Variant Present in the following documents:

• Main text
• 41598_2021_3925_MOESM1_ESM.pdf
• 41598_2021_Article_3925.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: G991V

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: 2972G>T; Gly991Val

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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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: 2972G>T; G991V

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

View BVdb publication page

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