Publications:

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: PALB2: 2464C>T; Gln822Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: PALB2: Q822*

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

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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: PALB2: 2464C>T; Q822X

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Homologous recombination DNA repair defects in PALB2-associated breast cancers.

Npj Breast Cancer

Li, Anqi A; Geyer, Felipe C FC; Blecua, Pedro P; Lee, Ju Youn JY; Selenica, Pier P; Brown, David N DN; Pareja, Fresia F; Lee, Simon S K SSK; Kumar, Rahul R; Rivera, Barbara B; Bi, Rui R; Piscuoglio, Salvatore S; Wen, Hannah Y HY; Lozada, John R JR; Gularte-Mérida, Rodrigo R; Cavallone, Luca L; , ; Rezoug, Zoulikha Z; Nguyen-Dumont, Tu T; Peterlongo, Paolo P; Tondini, Carlo C; Terkelsen, Thorkild T; Rønlund, Karina K; Boonen, Susanne E SE; Mannerma, Arto A; Winqvist, Robert R; Janatova, Marketa M; Rajadurai, Pathmanathan P; Xia, Bing B; Norton, Larry L; Robson, Mark E ME; Ng, Pei-Sze PS; Looi, Lai-Meng LM; Southey, Melissa C MC; Weigelt, Britta B; Soo-Hwang, Teo T; Tischkowitz, Marc M; Foulkes, William D WD; Reis-Filho, Jorge S JS

Publication Date: 2019

Variant appearance in text: PALB2: Q822*

PubMed Link: 31428676

Variant Present in the following documents:

• Main text
• 41523_2019_Article_115.pdf

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