Publications:

Discovery of novel eGFR-associated multiple independent signals using a quasi-adaptive method.

Frontiers In Genetics

Ghasemi, Sahar S; Becker, Tim T; Grabe, Hans J HJ; Teumer, Alexander A

Publication Date: 2022

Variant appearance in text: rs81205

PubMed Link: 36386835

Variant Present in the following documents:

• Main text
• fgene-13-997302.pdf

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A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Npj Genomic Medicine

Torrado, Mario M; Fernández, Germán G; Ganoza, Christian A CA; Maneiro, Emilia E; García, Diego D; Sonicheva-Paterson, Natalia N; Rosa, Isaac I; Ochoa, Juan Pablo JP; Santomé, Luis L; Vasichkina, Elena E; Monserrat, Lorenzo L

Publication Date: 2021-03-04

Variant appearance in text: rs81205

PubMed Link: 33664273

Variant Present in the following documents:

• 41525_2021_Article_183.pdf

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Genetics of 35 blood and urine biomarkers in the UK Biobank.

Nature Genetics

Sinnott-Armstrong, Nasa N; Tanigawa, Yosuke Y; Amar, David D; Mars, Nina N; Benner, Christian C; Aguirre, Matthew M; Venkataraman, Guhan Ram GR; Wainberg, Michael M; Ollila, Hanna M HM; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Pirruccello, James P JP; Qian, Junyang J; Shcherbina, Anna A; , ; Rodriguez, Fatima F; Assimes, Themistocles L TL; Agarwala, Vineeta V; Tibshirani, Robert R; Hastie, Trevor T; Ripatti, Samuli S; Pritchard, Jonathan K JK; Daly, Mark J MJ; Rivas, Manuel A MA

Publication Date: 2021-02

Variant appearance in text: KCNQ1: 1733-402A>C; rs81205

PubMed Link: 33462484

Variant Present in the following documents:

• NIHMS1651539-supplement-2.xlsx, sheet 21

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