Publications:

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: rs12447620

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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A sex-specific evolutionary interaction between ADCY9 and CETP.

Elife

Gamache, Isabel I; Legault, Marc-André MA; Grenier, Jean-Christophe JC; Sanchez, Rocio R; Rhéaume, Eric E; Asgari, Samira S; Barhdadi, Amina A; Zada, Yassamin Feroz YF; Trochet, Holly H; Luo, Yang Y; Lecca, Leonid L; Murray, Megan M; Raychaudhuri, Soumya S; Tardif, Jean-Claude JC; Dubé, Marie-Pierre MP; Hussin, Julie J

Publication Date: 2021-10-05

Variant appearance in text: rs12447620

PubMed Link: 34609279

Variant Present in the following documents:

• Main text

View BVdb publication page

A sex-specific evolutionary interaction between ADCY9 and CETP.

Elife

Gamache, Isabel I; Legault, Marc-André MA; Grenier, Jean-Christophe JC; Sanchez, Rocio R; Rhéaume, Eric E; Asgari, Samira S; Barhdadi, Amina A; Zada, Yassamin Feroz YF; Trochet, Holly H; Luo, Yang Y; Lecca, Leonid L; Murray, Megan M; Raychaudhuri, Soumya S; Tardif, Jean-Claude JC; Dubé, Marie-Pierre MP; Hussin, Julie J

Publication Date: 2021-10-05

Variant appearance in text: rs12447620

PubMed Link: 34609279

Variant Present in the following documents:

• Main text

View BVdb publication page

Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications

Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C

Publication Date: 2021-09-24

Variant appearance in text: rs12447620

PubMed Link: 34561430

Variant Present in the following documents:

• 41467_2021_25703_MOESM1_ESM.pdf

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs12447620

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page