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: 4948G>T; Glu1650*

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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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: STGD1: 4948G>T

PubMed Link: 34347352

Variant Present in the following documents:

• Main text
• CPR-54-e13100.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: E1650X

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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