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: 5088C>G; Ser1696Arg

PubMed Link: 36178783

Variant Present in the following documents:

• tvst-11-9-34_s002.pdf

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Clonal evolution in liver cancer at single-cell and single-variant resolution.

Journal Of Hematology & Oncology

Su, Xianbin X; Zhao, Linan L; Shi, Yi Y; Zhang, Rui R; Long, Qi Q; Bai, Shihao S; Luo, Qing Q; Lin, Yingxin Y; Zou, Xin X; Ghazanfar, Shila S; Tao, Kun K; Yang, Guoliang G; Wang, Lan L; He, Kun-Yan KY; Cui, Xiaofang X; He, Jian J; Wu, Jiao-Xiang JX; Han, Bo B; Yan, Bin B; Deng, Biao B; Wang, Na N; Li, Xiaolin X; Yang, Pengyi P; Hou, Shangwei S; Sun, Jielin J; Yang, Jean Y H JYH; Chen, Jinhong J; Han, Ze-Guang ZG

Publication Date: 2021-02-02

Variant appearance in text: ABCA4: S1696R

PubMed Link: 33531041

Variant Present in the following documents:

• 13045_2021_1036_MOESM3_ESM.xlsx, sheet 1

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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: S1696R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 5088C>G; S1696R

PubMed Link: 23982839

Variant Present in the following documents:

• Main text

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