Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs1330512770

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 4

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: EGFR: R531Q; rs1330512770

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: EGFR: R531Q

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Custom multi‑tumor next‑generation sequencing panel for routine molecular diagnosis of solid tumors: Validation and results from three‑year clinical use.

International Journal Of Molecular Medicine

Chevrier, Sandy S; Brasselet, Astrid A; Carnet, Marion M; Chevriaux, Angélique A; Gibeaud, Anne A; Jourdain, Marine M; Mananet, Hugo H; Truntzer, Caroline C; Beltjens, Françoise F; Charon-Barra, Céline C; Arnould, Laurent L; Albuisson, Juliette J; Comte, Anthony A; Derangère, Valentin V; Goussot, Vincent V; Boidot, Romain R

Publication Date: 2022-05

Variant appearance in text: EGFR: 1592G>A; Arg531Gln

PubMed Link: 35244186

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 1

View BVdb publication page

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Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM).

Journal Of Medical Genetics

Wang, Kun K; Zhao, Sen S; Liu, Bowen B; Zhang, Qianqian Q; Li, Yaqi Y; Liu, Jiaqi J; Shen, Yan Y; Ding, Xinghuan X; Lin, Jiachen J; Wu, Yong Y; Yan, Zihui Z; Chen, Jia J; Li, Xiaoxin X; Song, Xiaofei X; Niu, Yuchen Y; Liu, Jian J; Chen, Weisheng W; Ming, Yue Y; Du, Renqian R; Chen, Cong C; Long, Bo B; Zhang, Yisen Y; Tong, Xiangjun X; Zhang, Shuyang S; Posey, Jennifer E JE; Zhang, Bo B; Wu, Zhihong Z; Wythe, Joshua D JD; Liu, Pengfei P; Lupski, James R JR; Yang, Xinjian X; Wu, Nan N

Publication Date: 2018-10

Variant appearance in text: EGFR: 1592G>A

PubMed Link: 30120215

Variant Present in the following documents:

• Main text
• jmedgenet-2017-105224.pdf

View BVdb publication page

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Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications

Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ

Publication Date: 2017-05-11

Variant appearance in text: EGFR: R531Q

PubMed Link: 28492226

Variant Present in the following documents:

• ncomms15086-s3.xlsx, sheet 1

View BVdb publication page

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Patient-Derived Xenograft Models of Non-Small Cell Lung Cancer and Their Potential Utility in Personalized Medicine.

Frontiers In Oncology

Morgan, Katherine M KM; Riedlinger, Gregory M GM; Rosenfeld, Jeffrey J; Ganesan, Shridar S; Pine, Sharon R SR

Publication Date: 2017

Variant appearance in text: EGFR: R531Q

PubMed Link: 28154808

Variant Present in the following documents:

• Main text

View BVdb publication page

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