Publications:

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

Plos Genetics

Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR

Publication Date: 2020-11

Variant appearance in text: rs683282

PubMed Link: 33226994

Variant Present in the following documents:

• pgen.1008802.s003.xlsx, sheet 1

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PRINCESS: Privacy-protecting Rare disease International Network Collaboration via Encryption through Software guard extensionS.

Bioinformatics (Oxford, England)

Chen, Feng F; Wang, Shuang S; Jiang, Xiaoqian X; Ding, Sijie S; Lu, Yao Y; Kim, Jihoon J; Sahinalp, S Cenk SC; Shimizu, Chisato C; Burns, Jane C JC; Wright, Victoria J VJ; Png, Eileen E; Hibberd, Martin L ML; Lloyd, David D DD; Yang, Hai H; Telenti, Amalio A; Bloss, Cinnamon S CS; Fox, Dov D; Lauter, Kristin K; Ohno-Machado, Lucila L

Publication Date: 2017-03-15

Variant appearance in text: rs683282

PubMed Link: 28065902

Variant Present in the following documents:

• Main text

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A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.

Molecular Vision

Yip, Shea Ping SP; Leung, Kim Hung KH; Fung, Wai Yan WY; Ng, Po Wah PW; Sham, Pak Chung PC; Yap, Maurice K H MK

Publication Date: 2011-03-26

Variant appearance in text: rs683282

PubMed Link: 21527992

Variant Present in the following documents:

• Main text
• mv-v17-810.pdf

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Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.

Molecular Vision

Dimasi, David P DP; Burdon, Kathryn P KP; Hewitt, Alex W AW; Savarirayan, Ravi R; Healey, Paul R PR; Mitchell, Paul P; Mackey, David A DA; Craig, Jamie E JE

Publication Date: 2010-03-31

Variant appearance in text: rs683282

PubMed Link: 20360993

Variant Present in the following documents:

• Main text
• mv-v16-562.pdf

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