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: 3743_3744insT; Tyr1249fs

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: MSH6: 3743_3744insT; Tyr1249Leufs

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma.

Human Mutation

Zhang, Liying L; Walsh, Michael F MF; Jairam, Sowmya S; Mandelker, Diana D; Zhong, Yi Y; Kemel, Yelena Y; Chen, Ying-Bei YB; Musheyev, David D; Zehir, Ahmet A; Jayakumaran, Gowtham G; Brzostowski, Edyta E; Birsoy, Ozge O; Yang, Ciyu C; Li, Yirong Y; Somar, Joshua J; DeLair, Deborah D; Pradhan, Nisha N; Berger, Michael F MF; Cadoo, Karen K; Carlo, Maria I MI; Robson, Mark E ME; Stadler, Zsofia K ZK; Iacobuzio-Donahue, Christine A CA; Joseph, Vijai V; Offit, Kenneth K

Publication Date: 2020-01

Variant appearance in text: MSH6: 3743_3744insT

PubMed Link: 31444830

Variant Present in the following documents:

• Main text

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: MSH6: 3743_3744insT

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page