Publications:

Different Phenotypes Represent Advancing Stages of ABCA4-Associated Retinopathy: A Longitudinal Study of 212 Chinese Families From a Tertiary Center.

Investigative Ophthalmology & Visual Science

Wang, Yingwei Y; Sun, Wenmin W; Zhou, Jing J; Li, Xueqing X; Jiang, Yi Y; Li, Shiqiang S; Jia, Xiaoyun X; Xiao, Xueshan X; Ouyang, Jiamin J; Wang, Yueye Y; Zhou, Lin L; Long, Yuxi Y; Liu, Mengchu M; Li, Yongyu Y; Yi, Zhen Z; Wang, Panfeng P; Zhang, Qingjiong Q

Publication Date: 2022-05-02

Variant appearance in text: ABCA4: 6095A>G; His2032Arg

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

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Small-molecule compounds boost genome-editing efficiency of cytosine base editor.

Nucleic Acids Research

Zhao, Tianyuan T; Li, Qing Q; Zhou, Chenchen C; Lv, Xiujuan X; Liu, Hongyan H; Tu, Tianxiang T; Tang, Na N; Cheng, Yanbo Y; Liu, Xiaoyu X; Liu, Changbao C; Zhao, Junzhao J; Song, Zongming Z; Wang, Haoyi H; Li, Jinsong J; Gu, Feng F

Publication Date: 2021-09-07

Variant appearance in text: ABCA4: H2032R

PubMed Link: 34329468

Variant Present in the following documents:

• Main text
• gkab645.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: H2032R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing.

Eye And Vision (London, England)

Raj, Rajendran Kadarkarai RK; Dhoble, Pankaja P; Anjanamurthy, Rupa R; Chermakani, Prakash P; Kumaran, Manojkumar M; Devarajan, Bharanidharan B; Sundaresan, Periasamy P

Publication Date: 2020

Variant appearance in text: ABCA4: H2032R; rs1242866408

PubMed Link: 31934596

Variant Present in the following documents:

• Main text
• 40662_2019_Article_168.pdf

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Molecular diagnosis of putative Stargardt disease by capture next generation sequencing.

Plos One

Zhang, Xiao X; Ge, Xianglian X; Shi, Wei W; Huang, Ping P; Min, Qingjie Q; Li, Minghan M; Yu, Xinping X; Wu, Yaming Y; Zhao, Guangyu G; Tong, Yi Y; Jin, Zi-Bing ZB; Qu, Jia J; Gu, Feng F

Publication Date: 2014

Variant appearance in text: ABCA4: 6095A>G

PubMed Link: 24763286

Variant Present in the following documents:

• Main text
• pone.0095528.pdf

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