Publications:

Simultaneous Copy Number Alteration and Single-Nucleotide Variation Analysis in Matched Aqueous Humor and Tumor Samples in Children with Retinoblastoma.

International Journal Of Molecular Sciences

Schmidt, Michael J MJ; Prabakar, Rishvanth K RK; Pike, Sarah S; Yellapantula, Venkata V; Peng, Chen-Ching CC; Kuhn, Peter P; Hicks, James J; Xu, Liya L; Berry, Jesse L JL

Publication Date: 2023-05-11

Variant appearance in text: RB1: G86*

PubMed Link: 37239954

Variant Present in the following documents:

• ijms-24-08606.pdf

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Whole exome analysis reveals the genomic profiling related to chemo-resistance in Chinese population with limited-disease small cell lung cancer.

Cancer Medicine

Yu, Jiangyong J; Zhao, Shuangtao S; Su, Zhe Z; Song, Chengli C; Wu, Lihong L; Wang, Jingbo J; Bi, Nan N; Wang, Lvhua L

Publication Date: 2022-06-23

Variant appearance in text: RB1: G86X

PubMed Link: 35735600

Variant Present in the following documents:

• CAM4-12-1035.pdf

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: RB1: G86*

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

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Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes.

Ophthalmic Genetics

Xu, Liya L; Shen, Lishuang L; Polski, Ashley A; Prabakar, Rishvanth K RK; Shah, Rachana R; Jubran, Rima R; Kim, Jonathan W JW; Biegel, Jacklyn J; Kuhn, Peter P; Cobrinik, David D; Hicks, James J; Gai, Xiaowu X; Berry, Jesse L JL

Publication Date: 2020-12

Variant appearance in text: RB1: 256G>T; Gly86*

PubMed Link: 32799607

Variant Present in the following documents:

• Main text

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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics

Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U

Publication Date: 2020-07

Variant appearance in text: RB1: 256G>T; G86*

PubMed Link: 32424350

Variant Present in the following documents:

• NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7

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