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: 716G>A; Trp239*

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

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A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.

Npj Genomic Medicine

González-Del Pozo, María M; Fernández-Suárez, Elena E; Bravo-Gil, Nereida N; Méndez-Vidal, Cristina C; Martín-Sánchez, Marta M; Rodríguez-de la Rúa, Enrique E; Ramos-Jiménez, Manuel M; Morillo-Sánchez, María José MJ; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2022-03-04

Variant appearance in text: ABCA4: 716G>A; Trp239Ter

PubMed Link: 35246562

Variant Present in the following documents:

• 41525_2022_Article_286.pdf

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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: 716G>A; Trp239Ter; rs755733328

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: ABCA4: W239X

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM1_ESM.xls, sheet 1

View BVdb publication page