Publications:

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: 517delC

PubMed Link: 36246008

Variant Present in the following documents:

• mmc3.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: STGD1: 517delC

PubMed Link: 33020556

Variant Present in the following documents:

• Main text
• 41598_2020_Article_73339.pdf

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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zaneveld, Jacques J; Siddiqui, Sorath S; Li, Huajin H; Wang, Xia X; Wang, Hui H; Wang, Keqing K; Li, Hui H; Ren, Huanan H; Lopez, Irma I; Dorfman, Allison A; Khan, Ayesha A; Wang, Feng F; Salvo, Jason J; Gelowani, Violet V; Li, Yumei Y; Sui, Ruifang R; Koenekoop, Robert R; Chen, Rui R

Publication Date: 2015-04

Variant appearance in text: ABCA4: 517delC

PubMed Link: 25474345

Variant Present in the following documents:

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