Publications:

Tumor immune microenvironment of self-identified African American and non-African American triple negative breast cancer.

Npj Breast Cancer

Marczyk, Michal M; Qing, Tao T; O'Meara, Tess T; Yagahoobi, Vesal V; Pelekanou, Vasiliki V; Bai, Yalai Y; Reisenbichler, Emily E; Cole, Kimberly S KS; Li, Xiaotong X; Gunasekharan, Vignesh V; Ibrahim, Eiman E; Fanucci, Kristina K; Wei, Wei W; Rimm, David L DL; Pusztai, Lajos L; Blenman, Kim R M KRM

Publication Date: 2022-07-22

Variant appearance in text: RYR1: Glu342Lys

PubMed Link: 35869114

Variant Present in the following documents:

• 41523_2022_449_MOESM2_ESM.xlsx, sheet 2

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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.

Scientific Reports

Hoppe, Kerstin K; Jurkat-Rott, Karin K; Kranepuhl, Stefanie S; Wearing, Scott S; Heiderich, Sebastian S; Merlak, Sonja S; Klingler, Werner W

Publication Date: 2021-02-09

Variant appearance in text: MHS: E342K

PubMed Link: 33564012

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82024.pdf

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Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.

Scientific Reports

Li, Chenguang C; Gao, Zhibo Z; Li, Fei F; Li, Xiangchun X; Sun, Yihua Y; Wang, Mengyun M; Li, Dan D; Wang, Rui R; Li, Fuming F; Fang, Rong R; Pan, Yunjian Y; Luo, Xiaoyang X; He, Jing J; Zheng, Liangtao L; Xia, Jufeng J; Qiu, Lixin L; He, Jun J; Ye, Ting T; Zhang, Ruoxin R; He, Minghui M; Zhu, Meiling M; Hu, Haichuan H; Shi, Tingyan T; Zhou, Xiaoyan X; Sun, Menghong M; Tian, Shilin S; Zhou, Yong Y; Wang, Qiaoxiu Q; Chen, Longyun L; Yin, Guangliang G; Lu, Jingya J; Wu, Renhua R; Guo, Guangwu G; Li, Yingrui Y; Hu, Xueda X; Li, Lin L; Asan, ; Wang, Qin Q; Yin, Ye Y; Feng, Qiang Q; Wang, Bin B; Wang, Hang H; Wang, Mingbang M; Yang, Xiaonan X; Zhang, Xiuqing X; Yang, Huanming H; Jin, Li L; Wang, Cun-Yu CY; Ji, Hongbin H; Chen, Haiquan H; Wang, Jun J; Wei, Qingyi Q

Publication Date: 2015-10-27

Variant appearance in text: RYR1: E342K

PubMed Link: 26503331

Variant Present in the following documents:

• srep14237-s6.xls, sheet 1

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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.

Orphanet Journal Of Rare Diseases

Klingler, Werner W; Heiderich, Sebastian S; Girard, Thierry T; Gravino, Elvira E; Heffron, James Ja JJ; Johannsen, Stephan S; Jurkat-Rott, Karin K; Rüffert, Henrik H; Schuster, Frank F; Snoeck, Marc M; Sorrentino, Vincenzo V; Tegazzin, Vincenzo V; Lehmann-Horn, Frank F

Publication Date: 2014-01-16

Variant appearance in text: MHS: 1024G>A

PubMed Link: 24433488

Variant Present in the following documents:

• Main text
• 1750-1172-9-8.pdf

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