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: 5177C>A; Thr1726Asn

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease.

Scientific Reports

Charng, Jason J; Xiao, Di D; Mehdizadeh, Maryam M; Attia, Mary S MS; Arunachalam, Sukanya S; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; De Roach, John N JN; Mackey, David A DA; Frost, Shaun S; Chen, Fred K FK

Publication Date: 2020-10-05

Variant appearance in text: ABCA4: 5177C>A

PubMed Link: 33020556

Variant Present in the following documents:

• Main text
• 41598_2020_Article_73339.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: T1726N

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 5177C>A

PubMed Link: 29925512

Variant Present in the following documents:

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

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Analysis of the ABCA4 gene by next-generation sequencing.

Investigative Ophthalmology & Visual Science

Zernant, Jana J; Schubert, Carl C; Im, Kate M KM; Burke, Tomas T; Brown, Carolyn M CM; Fishman, Gerald A GA; Tsang, Stephen H SH; Gouras, Peter P; Dean, Michael M; Allikmets, Rando R

Publication Date: 2011-10-31

Variant appearance in text: ABCA4: 5177C>A

PubMed Link: 21911583

Variant Present in the following documents:

• Main text

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