Publications:

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Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.

Jama Neurology

Cho, Bernard P H BPH; Harshfield, Eric L EL; Al-Thani, Maha M; Tozer, Daniel J DJ; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2022-10-27

Variant appearance in text: EGFR: 1547G>T

PubMed Link: 36300346

Variant Present in the following documents:

• jamaneurol-e223832-s001.pdf

View BVdb publication page

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A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Genome Research

Chen, Siwei S; Liu, Yuan Y; Zhang, Yingying Y; Wierbowski, Shayne D SD; Lipkin, Steven M SM; Wei, Xiaomu X; Yu, Haiyuan H

Publication Date: 2022-01

Variant appearance in text: EGFR: W516L

PubMed Link: 34963661

Variant Present in the following documents:

• supp_gr.275437.121_Supplementary_Table_1.xlsx, sheet 3

View BVdb publication page

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NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Journal Of Neurology, Neurosurgery, And Psychiatry

Cho, Bernard P H BPH; Nannoni, Stefania S; Harshfield, Eric L EL; Tozer, Daniel D; Gräf, Stefan S; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2021-07

Variant appearance in text: EGFR: 1547G>T

PubMed Link: 33712516

Variant Present in the following documents:

• jnnp-2020-325838supp001.pdf

View BVdb publication page

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NOTCH3 variants are more common than expected in the general population and associated with stroke and vascular dementia: an analysis of 200 000 participants.

Journal Of Neurology, Neurosurgery, And Psychiatry

Cho, Bernard P H BPH; Nannoni, Stefania S; Harshfield, Eric L EL; Tozer, Daniel D; Gräf, Stefan S; Bell, Steven S; Markus, Hugh S HS

Publication Date: 2021-07

Variant appearance in text: EGFR: 1547G>T

PubMed Link: 33712516

Variant Present in the following documents:

• jnnp-2020-325838supp001.pdf

View BVdb publication page

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Base excision repair deficiency signatures implicate germline and somatic MUTYH aberrations in pancreatic ductal adenocarcinoma and breast cancer oncogenesis.

Cold Spring Harbor Molecular Case Studies

Thibodeau, My Linh ML; Zhao, Eric Y EY; Reisle, Caralyn C; Ch'ng, Carolyn C; Wong, Hui-Li HL; Shen, Yaoqing Y; Jones, Martin R MR; Lim, Howard J HJ; Young, Sean S; Cremin, Carol C; Pleasance, Erin E; Zhang, Wei W; Holt, Robert R; Eirew, Peter P; Karasinska, Joanna J; Kalloger, Steve E SE; Taylor, Greg G; Majounie, Elisa E; Bonakdar, Melika M; Zong, Zusheng Z; Bleile, Dustin D; Chiu, Readman R; Birol, Inanc I; Gelmon, Karen K; Lohrisch, Caroline C; Mungall, Karen L KL; Mungall, Andrew J AJ; Moore, Richard R; Ma, Yussanne P YP; Fok, Alexandra A; Yip, Stephen S; Karsan, Aly A; Huntsman, David D; Schaeffer, David F DF; Laskin, Janessa J; Marra, Marco A MA; Renouf, Daniel J DJ; Jones, Steven J M SJM; Schrader, Kasmintan A KA

Publication Date: 2019-04

Variant appearance in text: EGFR: 1547G>T

PubMed Link: 30833417

Variant Present in the following documents:

• supp_mcs.a003681_Supplemental_Table_S2.xlsx, sheet 3

View BVdb publication page

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Clonal replacement and heterogeneity in breast tumors treated with neoadjuvant HER2-targeted therapy.

Nature Communications

Caswell-Jin, Jennifer L JL; McNamara, Katherine K; Reiter, Johannes G JG; Sun, Ruping R; Hu, Zheng Z; Ma, Zhicheng Z; Ding, Jie J; Suarez, Carlos J CJ; Tilk, Susanne S; Raghavendra, Akshara A; Forte, Victoria V; Chin, Suet-Feung SF; Bardwell, Helen H; Provenzano, Elena E; Caldas, Carlos C; Lang, Julie J; West, Robert R; Tripathy, Debu D; Press, Michael F MF; Curtis, Christina C

Publication Date: 2019-02-08

Variant appearance in text: EGFR: W516L

PubMed Link: 30737380

Variant Present in the following documents:

• 41467_2019_8593_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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