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: BRCA1: Glu1257fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports

Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE

Publication Date: 2022-11-03

Variant appearance in text: N/A

PubMed Link: 36329109

Variant Present in the following documents:

View BVdb publication page

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Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies.

Blood Advances

Saygin, Caner C; Roloff, Gregory W GW; Hahn, Christopher N CN; Chhetri, Rakchha R; Gill, Saar I SI; Elmariah, Hany H; Talati, Chetasi C; Nunley, Emma E; Gao, Guimin G; Kim, Aelin A; Bishop, Michael R MR; Kosuri, Satyajit S; Das, Soma S; Singhal, Deepak D; Venugopal, Parvathy P; Homan, Claire Christine CC; Brown, Anna L AL; Scott, Hamish S HS; Hiwase, Devendra K DK; Godley, Lucy A LA

Publication Date: 2022-08-24

Variant appearance in text: N/A

PubMed Link: 36001442

Variant Present in the following documents:

View BVdb publication page

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Five Italian Families with Two Mutations in BRCA Genes.

Genes

Vietri, Maria Teresa MT; Caliendo, Gemma G; D'Elia, Giovanna G; Resse, Marianna M; Casamassimi, Amelia A; Minucci, Pellegrino Biagio PB; Dello Ioio, Concetta C; Cioffi, Michele M; Molinari, Anna Maria AM

Publication Date: 2020-12-03

Variant appearance in text: N/A

PubMed Link: 33287145

Variant Present in the following documents:

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Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes.

Oncotarget

Hirotsu, Yosuke Y; Ooka, Yoshihiko Y; Sakamoto, Ikuko I; Nakagomi, Hiroshi H; Omata, Masao M

Publication Date: 2017-12-29

Variant appearance in text: N/A

PubMed Link: 29383094

Variant Present in the following documents:

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Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer.

Molecular Genetics & Genomic Medicine

Hirotsu, Yosuke Y; Nakagomi, Hiroshi H; Sakamoto, Ikuko I; Amemiya, Kenji K; Oyama, Toshio T; Mochizuki, Hitoshi H; Omata, Masao M

Publication Date: 2015-09

Variant appearance in text: N/A

PubMed Link: 26436112

Variant Present in the following documents:

View BVdb publication page

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