Publications:

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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: 6190G>A; Ala2064Thr; rs61753040

PubMed Link: 36729443

Variant Present in the following documents:

• iovs-64-2-5_s003.xlsx, sheet 1

View BVdb publication page

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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: 6190G>A; Ala2064Thr

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

View BVdb publication page

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Targeted next-generation sequencing identifies ABCA4 mutations in Chinese families with childhood-onset and adult-onset Stargardt disease.

Bioscience Reports

Qu, Ling-Hui LH; Jin, Xin X; Zeng, Chao C; Zhou, Nian-Gou NG; Liu, Yan-Hong YH; Lin, Ye Y

Publication Date: 2021-06-25

Variant appearance in text: ABCA4: 6190G>A

PubMed Link: 33988224

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Npj Genomic Medicine

Chen, Ta-Ching TC; Huang, Ding-Siang DS; Lin, Chao-Wen CW; Yang, Chang-Hao CH; Yang, Chung-May CM; Wang, Victoria Y VY; Lin, Jou-Wei JW; Luo, Allen Chilun AC; Hu, Fung-Rong FR; Chen, Pei-Lung PL

Publication Date: 2021-02-19

Variant appearance in text: ABCA4: 6190G>A; Ala2064Thr

PubMed Link: 33608557

Variant Present in the following documents:

• 41525_2021_180_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: A2064T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: ABCA4: 6190G>A; Ala2064Thr; rs61753040

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: ABCA4: A2064T

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: ABCA4: 6190G>A; Ala2064Thr; rs61753040

PubMed Link: 31543898

Variant Present in the following documents:

• Table_2.xls, sheet 1

View BVdb publication page

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Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.

Scientific Reports

Lin, Bing B; Cai, Xue-Bi XB; Zheng, Zhi-Li ZL; Huang, Xiu-Feng XF; Liu, Xiao-Ling XL; Qu, Jia J; Jin, Zi-Bing ZB

Publication Date: 2016-10-14

Variant appearance in text: ABCA4: A2064T

PubMed Link: 27739528

Variant Present in the following documents:

• Main text
• srep35414.pdf

View BVdb publication page

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Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Leukemia

Bouska, A A; Zhang, W W; Gong, Q Q; Iqbal, J J; Scuto, A A; Vose, J J; Ludvigsen, M M; Fu, K K; Weisenburger, D D DD; Greiner, T C TC; Gascoyne, R D RD; Rosenwald, A A; Ott, G G; Campo, E E; Rimsza, L M LM; Delabie, J J; Jaffe, E S ES; Braziel, R M RM; Connors, J M JM; Wu, C-I CI; Staudt, L M LM; D'Amore, F F; McKeithan, T W TW; Chan, W C WC

Publication Date: 2017-01

Variant appearance in text: ABCA4: A2064T

PubMed Link: 27389057

Variant Present in the following documents:

• NIHMS790817-supplement-6.xlsx, sheet 1

View BVdb publication page

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Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype-phenotype correlations and unexpected diagnostic revisions.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Zaneveld, Jacques J; Siddiqui, Sorath S; Li, Huajin H; Wang, Xia X; Wang, Hui H; Wang, Keqing K; Li, Hui H; Ren, Huanan H; Lopez, Irma I; Dorfman, Allison A; Khan, Ayesha A; Wang, Feng F; Salvo, Jason J; Gelowani, Violet V; Li, Yumei Y; Sui, Ruifang R; Koenekoop, Robert R; Chen, Rui R

Publication Date: 2015-04

Variant appearance in text: ABCA4: 6190G>A

PubMed Link: 25474345

Variant Present in the following documents:

View BVdb publication page

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