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: rs668842

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: rs668842

PubMed Link: 28065902

Variant Present in the following documents:

• Main text

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The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.

Bmc Medical Genetics

Keramati, Ali R AR; Sadeghpour, Anita A; Farahani, Maryam M MM; Chandok, Gurangad G; Mani, Arya A

Publication Date: 2010-10-11

Variant appearance in text: rs668842

PubMed Link: 20937124

Variant Present in the following documents:

• Main text
• 1471-2350-11-143.pdf

View BVdb publication page