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: 2261T>C; Phe754Ser

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.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: 2261T>C

PubMed Link: 34347352

Variant Present in the following documents:

• Main text
• CPR-54-e13100.pdf

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Whole-exome sequencing identifies novel mutations in ABC transporter genes associated with intrahepatic cholestasis of pregnancy disease: a case-control study.

Bmc Pregnancy And Childbirth

Liu, Xianxian X; Lai, Hua H; Xin, Siming S; Li, Zengming Z; Zeng, Xiaoming X; Nie, Liju L; Liang, Zhengyi Z; Wu, Meiling M; Zheng, Jiusheng J; Zou, Yang Y

Publication Date: 2021-02-05

Variant appearance in text: ABCA4: Phe754Ser

PubMed Link: 33546617

Variant Present in the following documents:

• Main text
• 12884_2021_Article_3595.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: F754S

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants.

Frontiers In Genetics

Hu, Fang-Yuan FY; Li, Jian-Kang JK; Gao, Feng-Juan FJ; Qi, Yu-He YH; Xu, Ping P; Zhang, Yong-Jin YJ; Wang, Dan-Dan DD; Wang, Lu-Sheng LS; Li, Wei W; Wang, Min M; Chen, Fang F; Shen, Si-Mai SM; Xu, Ge-Zhi GZ; Zhang, Sheng-Hai SH; Chang, Qing Q; Wu, Ji-Hong JH

Publication Date: 2019

Variant appearance in text: STGD1: 2261T>C

PubMed Link: 31543898

Variant Present in the following documents:

• Table_2.xls, sheet 1
• Table_3.xls, sheet 1

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