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: rs2466792

PubMed Link: 33226994

Variant Present in the following documents:

• pgen.1008802.s003.xlsx, sheet 1

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Pure and Confounded Effects of Causal SNPs on Longevity: Insights for Proper Interpretation of Research Findings in GWAS of Populations with Different Genetic Structures.

Frontiers In Genetics

Yashin, Anatoliy I AI; Zhbannikov, Ilya I; Arbeeva, Liubov L; Arbeev, Konstantin G KG; Wu, Deqing D; Akushevich, Igor I; Yashkin, Arseniy A; Kovtun, Mikhail M; Kulminski, Alexander M AM; Stallard, Eric E; Kulminskaya, Irina I; Ukraintseva, Svetlana S

Publication Date: 2016

Variant appearance in text: rs2466792

PubMed Link: 27877192

Variant Present in the following documents:

• Main text
• fgene-07-00188.pdf

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Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

American Journal Of Human Genetics

El-Sayed, Walid W; Parry, David A DA; Shore, Roger C RC; Ahmed, Mushtaq M; Jafri, Hussain H; Rashid, Yasmin Y; Al-Bahlani, Suhaila S; Al Harasi, Sharifa S; Kirkham, Jennifer J; Inglehearn, Chris F CF; Mighell, Alan J AJ

Publication Date: 2009-11

Variant appearance in text: rs2466792

PubMed Link: 19853237

Variant Present in the following documents:

• mmc1.pdf

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