Publications:

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: EGF: Q315R; rs777994103

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: EGF: Q315R

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: EGF: Q315R

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

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Vorasidenib (AG-881): A First-in-Class, Brain-Penetrant Dual Inhibitor of Mutant IDH1 and 2 for Treatment of Glioma.

Acs Medicinal Chemistry Letters

Konteatis, Zenon Z; Artin, Erin E; Nicolay, Brandon B; Straley, Kimberly K; Padyana, Anil K AK; Jin, Lei L; Chen, Yue Y; Narayaraswamy, Rohini R; Tong, Shuilong S; Wang, Feng F; Zhou, Ding D; Cui, Dawei D; Cai, Zhenwei Z; Luo, Zhiyong Z; Fang, Cheng C; Tang, Huachun H; Lv, Xiaobing X; Nagaraja, Raj R; Yang, Hua H; Su, Shin-San M SM; Sui, Zhihua Z; Dang, Lenny L; Yen, Katharine K; Popovici-Muller, Janeta J; Codega, Paolo P; Campos, Carl C; Mellinghoff, Ingo K IK; Biller, Scott A SA

Publication Date: 2020-02-13

Variant appearance in text: EGF: Q315r

PubMed Link: 32071674

Variant Present in the following documents:

• ml9b00509_si_001.pdf

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Ivermectin inhibits HSP27 and potentiates efficacy of oncogene targeting in tumor models.

The Journal Of Clinical Investigation

Nappi, Lucia L; Aguda, Adeleke H AH; Nakouzi, Nader Al NA; Lelj-Garolla, Barbara B; Beraldi, Eliana E; Lallous, Nada N; Thi, Marisa M; Moore, Susan S; Fazli, Ladan L; Battsogt, Dulguun D; Stief, Sophie S; Ban, Fuqiang F; Nguyen, Nham T NT; Saxena, Neetu N; Dueva, Evgenia E; Zhang, Fan F; Yamazaki, Takeshi T; Zoubeidi, Amina A; Cherkasov, Artem A; Brayer, Gary D GD; Gleave, Martin M

Publication Date: 2020-02-03

Variant appearance in text: EGF: Q315R

PubMed Link: 31845908

Variant Present in the following documents:

• Main text

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