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: MSH6: 1883G>A; Trp628Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Single cell spatial analysis reveals the topology of immunomodulatory purinergic signaling in glioblastoma.

Nature Communications

Coy, Shannon S; Wang, Shu S; Stopka, Sylwia A SA; Lin, Jia-Ren JR; Yapp, Clarence C; Ritch, Cecily C CC; Salhi, Lisa L; Baker, Gregory J GJ; Rashid, Rumana R; Baquer, Gerard G; Regan, Michael M; Khadka, Prasidda P; Cole, Kristina A KA; Hwang, Jaeho J; Wen, Patrick Y PY; Bandopadhayay, Pratiti P; Santi, Mariarita M; De Raedt, Thomas T; Ligon, Keith L KL; Agar, Nathalie Y R NYR; Sorger, Peter K PK; Touat, Mehdi M; Santagata, Sandro S

Publication Date: 2022-08-16

Variant appearance in text: MSH6: W628*

PubMed Link: 35973991

Variant Present in the following documents:

• 41467_2022_32430_MOESM17_ESM.xlsx, sheet 29

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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: MSH6: 1883G>A; Trp628Ter; rs863225401

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Durable Response to Nivolumab in a Pediatric Patient with Refractory Glioblastoma and Constitutional Biallelic Mismatch Repair Deficiency.

The Oncologist

AlHarbi, Musa M; Ali Mobark, Nahla N; AlMubarak, Latifa L; Aljelaify, Rasha R; AlSaeed, Mariam M; Almutairi, Amal A; Alqubaishi, Fatmah F; Hussain, M Emarat ME; Balbaid, Ali Abdullah O AAO; Said Marie, Amal A; AlSubaie, Lamia L; AlShieban, Saeed S; alTassan, Nada N; Ramkissoon, Shakti H SH; Abedalthagafi, Malak M

Publication Date: 2018-12

Variant appearance in text: MSH6: 1883G>A; W628*

PubMed Link: 30104292

Variant Present in the following documents:

• Main text

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: MSH6: W628X

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 2

View BVdb publication page