Publications:

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg

Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM

Publication Date: 2021-08

Variant appearance in text: rs78054559

PubMed Link: 33776059

Variant Present in the following documents:

• Main text

View BVdb publication page

Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.

European Journal Of Human Genetics : Ejhg

Doucette, Lance P LP; Noel, Nicole C L NCL; Zhai, Yi Y; Xu, Manlong M; Caluseriu, Oana O; Hoang, Stephanie C SC; Radziwon, Alina J AJ; MacDonald, Ian M IM

Publication Date: 2021-08

Variant appearance in text: rs78054559

PubMed Link: 33776059

Variant Present in the following documents:

• Main text

View BVdb publication page

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: LRP1: 2910G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

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Genetic variations in sites of affinity between FVIII and LRP1 are not associated with high FVIII levels in venous thromboembolism.

Scientific Reports

Bittar, Luis F LF; Siqueira, Lucia H LH; Orsi, Fernanda A FA; De Paula, Erich V EV; Annichino-Bizzacchi, Joyce M JM

Publication Date: 2015-03-18

Variant appearance in text: rs78054559

PubMed Link: 25782371

Variant Present in the following documents:

• Main text
• srep09246.pdf

View BVdb publication page