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: rs144913870

PubMed Link: 35420653

Variant Present in the following documents:

• mmc1.xlsx, sheet 5

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: rs144913870

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: rs144913870

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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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: rs144913870

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports

Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J

Publication Date: 2021-11-23

Variant appearance in text: rs144913870

PubMed Link: 34818533

Variant Present in the following documents:

• NIHMS1761779-supplement-Table_S8.xlsx, sheet 1

View BVdb publication page

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Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology

Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C

Publication Date: 2018-12-13

Variant appearance in text: rs144913870

PubMed Link: 30545397

Variant Present in the following documents:

• 13045_2018_679_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs144913870

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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