Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: USH2A: 8271T>G; Tyr2757Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Evolutionary route of nasopharyngeal carcinoma metastasis and its clinical significance.

Nature Communications

Lin, Mei M; Zhang, Xiao-Long XL; You, Rui R; Liu, You-Ping YP; Cai, Hong-Min HM; Liu, Li-Zhi LZ; Liu, Xue-Fei XF; Zou, Xiong X; Xie, Yu-Long YL; Zou, Ru-Hai RH; Zhang, Yi-Nuan YN; Sun, Rui R; Feng, Wei-Yi WY; Wang, Hai-Yan HY; Tao, Gui-Hua GH; Li, Hao-Jiang HJ; Huang, Wen-Jie WJ; Zhang, Chao C; Huang, Pei-Yu PY; Wang, Jin J; Zhao, Qi Q; Yang, Qi Q; Zhang, Hong-Wan HW; Liu, Ting T; Li, Hui-Feng HF; Jiang, Xiao-Bing XB; Tang, Jun J; Gu, Yang-Kui YK; Yu, Tao T; Wang, Zhi-Qiang ZQ; Feng, Lin L; Kang, Tie-Bang TB; Zuo, Zhi-Xiang ZX; Chen, Ming-Yuan MY

Publication Date: 2023-02-04

Variant appearance in text: USH2A: 8271T>G; Y2757X

PubMed Link: 36739462

Variant Present in the following documents:

• 41467_2023_35995_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics

Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y

Publication Date: 2023-02-04

Variant appearance in text: USH2A: 8271T>G; Y2757X

PubMed Link: 36739388

Variant Present in the following documents:

• 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: USH2A: Y2757*

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: USH2A: Y2757*

PubMed Link: 35140316

Variant Present in the following documents:

• 41598_2022_6239_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-Exome Sequencing in Papillary Microcarcinoma: Potential Early Biomarkers of Lateral Lymph Node Metastasis.

Endocrinology And Metabolism (Seoul, Korea)

Kim, Mijin M; Kwon, Chae Hwa CH; Jang, Min Hee MH; Kim, Jeong Mi JM; Kim, Eun Heui EH; Jeon, Yun Kyung YK; Kim, Sang Soo SS; Choi, Kyung-Un KU; Kim, In Joo IJ; Park, Meeyoung M; Kim, Bo Hyun BH

Publication Date: 2021-10

Variant appearance in text: USH2A: Y2757*

PubMed Link: 34731936

Variant Present in the following documents:

• Main text
• enm-2021-1132.pdf
• enm-2021-1132-suppl3.pdf
• enm-2021-1132-suppl4.pdf

View BVdb publication page

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