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: MSH2: 2161G>T; Gly721Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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: MSH2: 2161G>T; Gly721Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design.

Cell Reports

Rokita, Jo Lynne JL; Rathi, Komal S KS; Cardenas, Maria F MF; Upton, Kristen A KA; Jayaseelan, Joy J; Cross, Katherine L KL; Pfeil, Jacob J; Egolf, Laura E LE; Way, Gregory P GP; Farrel, Alvin A; Kendsersky, Nathan M NM; Patel, Khushbu K; Gaonkar, Krutika S KS; Modi, Apexa A; Berko, Esther R ER; Lopez, Gonzalo G; Vaksman, Zalman Z; Mayoh, Chelsea C; Nance, Jonas J; McCoy, Kristyn K; Haber, Michelle M; Evans, Kathryn K; McCalmont, Hannah H; Bendak, Katerina K; Böhm, Julia W JW; Marshall, Glenn M GM; Tyrrell, Vanessa V; Kalletla, Karthik K; Braun, Frank K FK; Qi, Lin L; Du, Yunchen Y; Zhang, Huiyuan H; Lindsay, Holly B HB; Zhao, Sibo S; Shu, Jack J; Baxter, Patricia P; Morton, Christopher C; Kurmashev, Dias D; Zheng, Siyuan S; Chen, Yidong Y; Bowen, Jay J; Bryan, Anthony C AC; Leraas, Kristen M KM; Coppens, Sara E SE; Doddapaneni, HarshaVardhan H; Momin, Zeineen Z; Zhang, Wendong W; Sacks, Gregory I GI; Hart, Lori S LS; Krytska, Kateryna K; Mosse, Yael P YP; Gatto, Gregory J GJ; Sanchez, Yolanda Y; Greene, Casey S CS; Diskin, Sharon J SJ; Vaske, Olena Morozova OM; Haussler, David D; Gastier-Foster, Julie M JM; Kolb, E Anders EA; Gorlick, Richard R; Li, Xiao-Nan XN; Reynolds, C Patrick CP; Kurmasheva, Raushan T RT; Houghton, Peter J PJ; Smith, Malcolm A MA; Lock, Richard B RB; Raman, Pichai P; Wheeler, David A DA; Maris, John M JM

Publication Date: 2019-11-05

Variant appearance in text: MSH2: G721*

PubMed Link: 31693904

Variant Present in the following documents:

• Main text
• NIHMS1542708-supplement-1.pdf
• nihms-1542708.pdf

View BVdb publication page