Publications:

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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: 740A>T

PubMed Link: 35657619

Variant Present in the following documents:

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

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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: N247I

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: 740A>T; Asn247Ile; rs62645950

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Genes

Birtel, Johannes J; Gliem, Martin M; Hess, Kristina K; Birtel, Theresa H TH; Holz, Frank G FG; Zechner, Ulrich U; Bolz, Hanno J HJ; Herrmann, Philipp P

Publication Date: 2020-01-28

Variant appearance in text: ABCA4: 740A>T; Asn247Ile

PubMed Link: 32013026

Variant Present in the following documents:

• Main text
• genes-11-00137.pdf

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Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families.

Scientific Reports

Huang, Lulin L; Zhang, Qi Q; Huang, Xin X; Qu, Chao C; Ma, Shi S; Mao, Yao Y; Yang, Jiyun J; Li, You Y; Li, Yuanfeng Y; Tan, Chang C; Zhao, Peiquan P; Yang, Zhenglin Z

Publication Date: 2017-05-16

Variant appearance in text: ABCA4: Asn247Ile

PubMed Link: 28512305

Variant Present in the following documents:

• Main text
• 41598_2017_Article_963.pdf

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Outcome of ABCA4 microarray screening in routine clinical practice.

Molecular Vision

Ernest, Paul J G PJ; Boon, Camiel J F CJ; Klevering, B Jeroen BJ; Hoefsloot, Lies H LH; Hoyng, Carel B CB

Publication Date: 2009-12-20

Variant appearance in text: ABCA4: 740A>T

PubMed Link: 20029649

Variant Present in the following documents:

• Main text
• mv-v15-2841.pdf

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