Publications:

A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans.

Plos One

Pendergrass, Sarah A SA; Buyske, Steven S; Jeff, Janina M JM; Frase, Alex A; Dudek, Scott S; Bradford, Yuki Y; Ambite, Jose-Luis JL; Avery, Christy L CL; Buzkova, Petra P; Deelman, Ewa E; Fesinmeyer, Megan D MD; Haiman, Christopher C; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsu, Chun-Nan CN; Jackson, Rebecca D RD; Lin, Yi Y; Le Marchand, Loic L; Matise, Tara C TC; Monroe, Kristine R KR; Moreland, Larry L; North, Kari E KE; Park, Sungshim L SL; Reiner, Alex A; Wallace, Robert R; Wilkens, Lynne R LR; Kooperberg, Charles C; Ritchie, Marylyn D MD; Crawford, Dana C DC

Publication Date: 2019

Variant appearance in text: rs138952225

PubMed Link: 31891604

Variant Present in the following documents:

• Main text
• pone.0226771.pdf

View BVdb publication page

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: RBKS: 761T>C; I254T; rs138952225

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM11_ESM.xlsx, sheet 1
• 41467_2019_11959_MOESM6_ESM.xlsx, sheet 1

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TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications

Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N

Publication Date: 2018-11-01

Variant appearance in text: RBKS: I254T; rs138952225

PubMed Link: 30385747

Variant Present in the following documents:

• 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page