Publications:

Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports

Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A

Publication Date: 2021-07-19

Variant appearance in text: PDE5A: D803A; rs149385790

PubMed Link: 34282249

Variant Present in the following documents:

• 41598_2021_94316_MOESM1_ESM.xlsx, sheet 2

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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: rs149385790

PubMed Link: 34226706

Variant Present in the following documents:

• Main text

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: rs149385790

PubMed Link: 34226706

Variant Present in the following documents:

• Main text

View BVdb publication page

Revisiting the Population Genetics of Human Height.

Journal Of The Endocrine Society

Rotwein, Peter P

Publication Date: 2020-04-01

Variant appearance in text: PDE5A: D803A; rs149385790

PubMed Link: 32232182

Variant Present in the following documents:

• Main text
• bvaa025.pdf

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: rs149385790

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page