Publications:

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: ABCA4: 4748T>C; Leu1583Pro; rs61750153

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: ABCA4: L1583P

PubMed Link: 33732702

Variant Present in the following documents:

• Main text
• fcell-09-634843.pdf

View BVdb publication page

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: ABCA4: L1583P

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_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: L1583P

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: 4748T>C; Leu1583Pro; rs61750153

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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Genotypic profile and phenotype correlations of ABCA4-associated retinopathy in Koreans.

Molecular Vision

Joo, Kwangsic K; Seong, Moon-Woo MW; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ

Publication Date: 2019

Variant appearance in text: STGD: 4748T>C

PubMed Link: 31814693

Variant Present in the following documents:

• Main text
• mv-v25-679.pdf

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Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Journal Of Korean Medical Science

Kim, Min Seok MS; Joo, Kwangsic K; Seong, Moon Woo MW; Kim, Man Jin MJ; Park, Kyu Hyung KH; Park, Sung Sup SS; Woo, Se Joon SJ

Publication Date: 2019-06-02

Variant appearance in text: ABCA4: 4748T>C

PubMed Link: 31144483

Variant Present in the following documents:

• Main text
• jkms-34-e161.pdf

View BVdb publication page

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Double hyperautofluorescent ring on fundus autofluorescence in ABCA4.

Ophthalmic Genetics

Abalem, Maria Fernanda MF; Qian, Cynthia X CX; Branham, Kari K; Schlegel, Dana D; Fahim, Abigail T AT; Khan, Naheed W NW; Heckenlively, John R JR; Jayasundera, K Thiran KT

Publication Date: 2018

Variant appearance in text: ABCA4: 4748T>C

PubMed Link: 28726568

Variant Present in the following documents:

• Main text

View BVdb publication page

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