Publications:

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Monogenic basis of young-onset cryptogenic stroke: a multicenter study.

Annals Of Translational Medicine

Yuan, Wei-Zhuang WZ; Shang, Liang L; Tian, Dai-Shi DS; Wu, Shi-Wen SW; You, Yong Y; Tian, Cheng-Lin CL; Wu, Bo B; Liu, Jun J; Sun, Qin-Jian QJ; Liu, Qing Q; Xu, Wei-Hai WH

Publication Date: 2022-05

Variant appearance in text: LRP6: K82N

PubMed Link: 35928749

Variant Present in the following documents:

• Main text
• atm-10-09-512.pdf

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Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Stroke And Vascular Neurology

Shi, Mengmeng M; Leng, Xinyi X; Li, Ying Y; Chen, Zihan Z; Cao, Ye Y; Chung, Tiffany T; Ip, Bonaventure Ym BY; Ip, Vincent Hl VH; Soo, Yannie Oy YO; Fan, Florence Sy FS; Ma, Sze Ho SH; Ma, Karen K; Chan, Anne Y Y AYY; Au, Lisa Wc LW; Leung, Howan H; Lau, Alexander Y AY; Mok, Vincent Ct VC; Choy, Kwong Wai KW; Dong, Zirui Z; Leung, Thomas W TW

Publication Date: 2022-06

Variant appearance in text: LRP6: K82N

PubMed Link: 34880113

Variant Present in the following documents:

• svn-2021-001157supp001.pdf

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs199693693

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM1_ESM.xls, sheet 1

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Accumulation of rare coding variants in genes implicated in risk of human cleft lip with or without cleft palate.

American Journal Of Medical Genetics. Part A

Marini, Nicholas J NJ; Asrani, Kripa K; Yang, Wei W; Rine, Jasper J; Shaw, Gary M GM

Publication Date: 2019-07

Variant appearance in text: LRP6: K82N

PubMed Link: 31063268

Variant Present in the following documents:

• AJMG-179-1260-s007.xlsx, sheet 1

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The LRP6 rs2302685 polymorphism is associated with increased risk of myocardial infarction.

Lipids In Health And Disease

Xu, Shun S; Cheng, Jie J; Chen, Yu-Ning YN; Li, Keshen K; Ma, Ze-Wei ZW; Cen, Jin-Ming JM; Liu, Xinguang X; Yang, Xi-Li XL; Chen, Can C; Xiong, Xing-Dong XD

Publication Date: 2014-06-07

Variant appearance in text: LRP6: K82N

PubMed Link: 24906453

Variant Present in the following documents:

• Main text
• 1476-511X-13-94.pdf

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Functional analysis LRP6 novel mutations in patients with coronary artery disease.

Plos One

Xu, Yujun Y; Gong, Wei W; Peng, Jia J; Wang, Haoran H; Huang, Jin J; Ding, Hu H; Wang, Dao Wen DW

Publication Date: 2014

Variant appearance in text: LRP6: K82N

PubMed Link: 24427284

Variant Present in the following documents:

• Main text
• pone.0084345.pdf

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