Publications:

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: RB1: 2029G>T; Glu677Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications

Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L

Publication Date: 2022-03-10

Variant appearance in text: RB1: 2029G>T; E677*

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: RB1: 2029G>T; E677*

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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Mutational screening of germline RB1 gene in Vietnamese patients with retinoblastoma reveals three novel mutations.

Molecular Vision

Nguyen, Ha Hai HH; Nguyen, Hoa Thi Thanh HTT; Vu, Nhung Phuong NP; Le, Quynh Thuy QT; Pham, Chau Minh CM; Huyen, Thuong Thi TT; Manh, Hung H; Pham, Hang Le Bich HLB; Nguyen, Ton Dang TD; Le, Hien Thi Thu HTT; Van Nong, Hai H

Publication Date: 2018

Variant appearance in text: RB1: 2029G>T

PubMed Link: 29568217

Variant Present in the following documents:

• Main text
• mv-v24-231.pdf

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The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular biomarker study.

The Journal Of Pathology. Clinical Research

Jour, George G; Wang, Lu L; Middha, Sumit S; Zehir, Ahmet A; Chen, Wen W; Sadowska, Justyna J; Healey, John J; Agaram, Narasimhan P NP; Choi, Lisa L; Nafa, Khedoudja K; Hameed, Meera M

Publication Date: 2016-01

Variant appearance in text: RB1: 2029G>T; E677*

PubMed Link: 27499911

Variant Present in the following documents:

• CJP2-2-09-s001.xlsx, sheet 1

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