Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TP53: 594_611del; Gly199_Glu204del

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 594_611del; G199_E204del

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Impact of DNA damage repair defects and aggressive variant features on response to carboplatin-based chemotherapy in metastatic castration-resistant prostate cancer.

International Journal Of Cancer

Slootbeek, Peter H J PHJ; Duizer, Marleen L ML; van der Doelen, Maarten J MJ; Kloots, Iris S H ISH; Kuppen, Malou C P MCP; Westgeest, Hans M HM; Uyl-de Groot, Carin A CA; Pamidimarri Naga, Samhita S; Ligtenberg, Marjolijn J L MJL; van Oort, Inge M IM; Gerritsen, Winald R WR; Schalken, Jack A JA; Kroeze, Leonie I LI; Bloemendal, Haiko J HJ; Mehra, Niven N

Publication Date: 2021-01-15

Variant appearance in text: TP53: V197_R202del

PubMed Link: 32965028

Variant Present in the following documents:

• IJC-148-385-s001.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: TP53: Val197_Arg202del

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 594_611del; Gly199_Glu204del

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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Multimodal molecular analysis of an atypical small cell carcinoma of the ovary, hypercalcemic type.

Cold Spring Harbor Molecular Case Studies

David, Marjorie P MP; Venkatramani, Rajkumar R; Lopez-Terrada, Dolores H DH; Roy, Angshumoy A; Patil, Ninad N; Fisher, Kevin E KE

Publication Date: 2018-10

Variant appearance in text: TP53: 594_611del

PubMed Link: 30275002

Variant Present in the following documents:

• Main text
• MCS002956Dav.pdf

View BVdb publication page

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