Publications:

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: H4C11: 10C>T; rs374472052

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: HIST1H4J: R4C

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

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Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Scientific Reports

Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B

Publication Date: 2020-09-01

Variant appearance in text: HIST1H4J: 10C>T

PubMed Link: 32873813

Variant Present in the following documents:

• 41598_2020_71382_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications

Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D

Publication Date: 2017-05-26

Variant appearance in text: HIST1H4J: Arg4Cys

PubMed Link: 28548104

Variant Present in the following documents:

• ncomms15290-s4.xlsx, sheet 1

View BVdb publication page