Publications:

Association of Common and Rare Genetic Variation in the 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Gene and Cataract Risk.

Journal Of The American Heart Association

Ghouse, Jonas J; Ahlberg, Gustav G; Skov, Anne Guldhammer AG; Bundgaard, Henning H; Olesen, Morten S MS

Publication Date: 2022-06-21

Variant appearance in text: PCSK9: 1863+1G>A

PubMed Link: 35703387

Variant Present in the following documents:

• JAH3-11-e025361-s001.pdf
• JAH3-11-e025361.pdf

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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: PCSK9: 1863+1G>A; rs765335983

PubMed Link: 34341098

Variant Present in the following documents:

• Main text
• openhrt-2021-001710.pdf

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Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.

Nature Genetics

Barton, Alison R AR; Sherman, Maxwell A MA; Mukamel, Ronen E RE; Loh, Po-Ru PR

Publication Date: 2021-08

Variant appearance in text: PCSK9: 1863+1G>A

PubMed Link: 34226706

Variant Present in the following documents:

• NIHMS1709729-supplement-Supplementary_Tables_1-15.xlsx, sheet 8

View BVdb publication page

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.

Nature Genetics

Barton, Alison R AR; Sherman, Maxwell A MA; Mukamel, Ronen E RE; Loh, Po-Ru PR

Publication Date: 2021-08

Variant appearance in text: PCSK9: 1863+1G>A

PubMed Link: 34226706

Variant Present in the following documents:

• NIHMS1709729-supplement-Supplementary_Tables_1-15.xlsx, sheet 8

View BVdb publication page

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

Ebiomedicine

Foley, Samantha B SB; Rios, Jonathan J JJ; Mgbemena, Victoria E VE; Robinson, Linda S LS; Hampel, Heather L HL; Toland, Amanda E AE; Durham, Leslie L; Ross, Theodora S TS

Publication Date: 2015-01

Variant appearance in text: PCSK9: 1863+1G>A

PubMed Link: 26023681

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page