Publications:

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Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.

Blood Advances

Jadhao, Sudhir S; Davison, Candice C; Roulis, Eileen V EV; Lee, Simon S; Lacaze, Paul P; Riaz, Moeen M; McNeil, John J JJ; Thomas, David M DM; Pecheniuk, Natalie M NM; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH

Publication Date: 2022-08-09

Variant appearance in text: ABCG2: R383C; rs560659849

PubMed Link: 35420653

Variant Present in the following documents:

• mmc1.xlsx, sheet 5

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: ABCG2: R383C; rs560659849

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine

Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH

Publication Date: 2022-01-13

Variant appearance in text: ABCG2: R383C; rs560659849

PubMed Link: 35033986

Variant Present in the following documents:

• mmc2.xlsx, sheet 13
• mmc3.xlsx, sheet 11

View BVdb publication page

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RBCeq: A robust and scalable algorithm for accurate genetic blood typing.

Ebiomedicine

Jadhao, Sudhir S; Davison, Candice L CL; Roulis, Eileen V EV; Schoeman, Elizna M EM; Divate, Mayur M; Haring, Mitchel M; Williams, Chris C; Shankar, Arvind Jaya AJ; Lee, Simon S; Pecheniuk, Natalie M NM; Irving, David O DO; Hyland, Catherine A CA; Flower, Robert L RL; Nagaraj, Shivashankar H SH

Publication Date: 2022-02

Variant appearance in text: ABCG2: R383C; rs560659849

PubMed Link: 35033986

Variant Present in the following documents:

• mmc3.xlsx, sheet 11
• mmc2.xlsx, sheet 13

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs560659849

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 5

View BVdb publication page

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Medically Important Alterations in Transport Function and Trafficking of ABCG2.

International Journal Of Molecular Sciences

Homolya, László L

Publication Date: 2021-03-10

Variant appearance in text: ABCG2: R383C

PubMed Link: 33801813

Variant Present in the following documents:

• Main text
• ijms-22-02786.pdf

View BVdb publication page

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Cellular Processing of the ABCG2 Transporter-Potential Effects on Gout and Drug Metabolism.

Cells

Mózner, Orsolya O; Bartos, Zsuzsa Z; Zámbó, Boglárka B; Homolya, László L; Hegedűs, Tamás T; Sarkadi, Balázs B

Publication Date: 2019-10-08

Variant appearance in text: ABCG2: R383C

PubMed Link: 31597297

Variant Present in the following documents:

• Main text
• cells-08-01215.pdf

View BVdb publication page

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Cellular expression and function of naturally occurring variants of the human ABCG2 multidrug transporter.

Cellular And Molecular Life Sciences : Cmls

Zámbó, Boglárka B; Mózner, Orsolya O; Bartos, Zsuzsa Z; Török, György G; Várady, György G; Telbisz, Ágnes Á; Homolya, László L; Orbán, Tamás I TI; Sarkadi, Balázs B

Publication Date: 2020-01

Variant appearance in text: ABCG2: R383C

PubMed Link: 31254042

Variant Present in the following documents:

• Main text
• 18_2019_Article_3186.pdf

View BVdb publication page

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Clinically relevant mutations in the ABCG2 transporter uncovered by genetic analysis linked to erythrocyte membrane protein expression.

Scientific Reports

Zámbó, Boglárka B; Bartos, Zsuzsa Z; Mózner, Orsolya O; Szabó, Edit E; Várady, György G; Poór, Gyula G; Pálinkás, Márton M; Andrikovics, Hajnalka H; Hegedűs, Tamás T; Homolya, László L; Sarkadi, Balázs B

Publication Date: 2018-05-10

Variant appearance in text: ABCG2: R383C

PubMed Link: 29749379

Variant Present in the following documents:

• Main text
• 41598_2018_Article_25695.pdf

View BVdb publication page

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