Publications:

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: 1343T>A; Met448Lys

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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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: M448K

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease.

Investigative Ophthalmology & Visual Science

Garces, Fabian F; Jiang, Kailun K; Molday, Laurie L LL; Stöhr, Heidi H; Weber, Bernhard H BH; Lyons, Christopher J CJ; Maberley, David D; Molday, Robert S RS

Publication Date: 2018-05-01

Variant appearance in text: ABCA4: Met448Lys

PubMed Link: 29847635

Variant Present in the following documents:

• Main text
• i1552-5783-59-6-2305.pdf

View BVdb publication page