Publications:

A growth selection system for the directed evolution of amine-forming or converting enzymes.

Nature Communications

Wu, Shuke S; Xiang, Chao C; Zhou, Yi Y; Khan, Mohammad Saiful Hasan MSH; Liu, Weidong W; Feiler, Christian G CG; Wei, Ren R; Weber, Gert G; Höhne, Matthias M; Bornscheuer, Uwe T UT

Publication Date: 2022-12-03

Variant appearance in text: ABCR: H55R

PubMed Link: 36460668

Variant Present in the following documents:

• 41467_2022_35228_MOESM1_ESM.pdf

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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: 164A>G; His55Arg

PubMed Link: 35608843

Variant Present in the following documents:

• iovs-63-5-28_s010.pdf

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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: H55R

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

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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: His55Arg

PubMed Link: 28512305

Variant Present in the following documents:

• Main text
• 41598_2017_Article_963.pdf

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Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis.

Plos One

Xin, Wei W; Xiao, Xueshan X; Li, Shiqiang S; Jia, Xiaoyun X; Guo, Xiangming X; Zhang, Qingjiong Q

Publication Date: 2015

Variant appearance in text: ABCA4: 164A>G

PubMed Link: 26161775

Variant Present in the following documents:

• Main text
• pone.0132635.pdf

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