Publications:

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Investigative Ophthalmology & Visual Science

Li, Wei W; He, Xiang-Dong XD; Yang, Zheng-Tao ZT; Han, Dong-Ming DM; Sun, Yan Y; Chen, Yan-Xian YX; Han, Xiao-Tong XT; Guo, Si-Cheng SC; Ma, Yu-Ting YT; Jin, Xin X; Yang, Huan-Ming HM; Gao, Ya Y; Wang, Zhuo-Shi ZS; Li, Jian-Kang JK; He, Wei W

Publication Date: 2023-02-01

Variant appearance in text: ABCA4: 2063_2064insA

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s003.xlsx, sheet 1

View BVdb publication page

Phenotype-Based Genetic Analysis Reveals Missing Heritability of ABCA4-Related Retinopathy: Deep Intronic Variants and Copy Number Variations.

Investigative Ophthalmology & Visual Science

Tian, Lu L; Chen, Chunjie C; Song, Yuning Y; Zhang, Xiaohui X; Xu, Ke K; Xie, Yue Y; Jin, Zi-Bing ZB; Li, Yang Y

Publication Date: 2022-06-01

Variant appearance in text: STGD: 2063dupA

PubMed Link: 35657619

Variant Present in the following documents:

• iovs-63-6-5_s002.xlsx, sheet 2
• iovs-63-6-5_s002.xlsx, sheet 1

View BVdb publication page

Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.

Frontiers In Cell And Developmental Biology

Zhu, Qing Q; Rui, Xue X; Li, Ya Y; You, Ya Y; Sheng, Xun-Lun XL; Lei, Bo B

Publication Date: 2021

Variant appearance in text: CORD3: 2063dupA

PubMed Link: 33732702

Variant Present in the following documents:

• Main text
• fcell-09-634843.pdf

View BVdb publication page

Novel variants of ABCA4 in Han Chinese families with Stargardt disease.

Bmc Medical Genetics

Hu, Fang-Yuan FY; Gao, Feng-Juan FJ; Li, Jian-Kang JK; Xu, Ping P; Wang, Dan-Dan DD; Zhang, Sheng-Hai SH; Wu, Ji-Hong JH

Publication Date: 2020-10-31

Variant appearance in text: ABCA4: 2063_2064insA

PubMed Link: 33129279

Variant Present in the following documents:

• Main text
• 12881_2020_1152_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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: ABCA4: 2063_2064insA; Asn688Lysfs*78

PubMed Link: 31543898

Variant Present in the following documents:

• Table_2.xls, sheet 1

View BVdb publication page