Publications:

Deciphering the mutational signature of congenital limb malformations.

Molecular Therapy. Nucleic Acids

Sun, Liying L; Huang, Yingzhao Y; Zhao, Sen S; Zhao, Junhui J; Yan, Zihui Z; Guo, Yang Y; Lin, Mao M; Zhong, Wenyao W; Yin, Yuehan Y; Chen, Zefu Z; Zhang, Nan N; Zhang, Yuanqiang Y; Zhao, Zongxuan Z; Li, Qingyang Q; Wang, Lianlei L; Dong, Xiying X; Li, Yaqi Y; Li, Xiaoxin X; Qiu, Guixing G; , ; Zhang, Terry Jianguo TJ; Wu, Zhihong Z; Tian, Wen W; Wu, Nan N

Publication Date: 2021-06-04

Variant appearance in text: CREBBP: 4471C>T

PubMed Link: 34094714

Variant Present in the following documents:

• Main text
• main.pdf

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Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Nature Communications

Mitchell, Khadijah A KA; Nichols, Noah N; Tang, Wei W; Walling, Jennifer J; Stevenson, Holly H; Pineda, Marbin M; Stefanescu, Roxana R; Edelman, Daniel C DC; Girvin, Andrew T AT; Zingone, Adriana A; Sinha, Sanju S; Bowman, Elise E; Rossi, Emily L EL; Arauz, Rony F RF; Jack Zhu, Yuelin Y; Lack, Justin J; Weingartner, Elizabeth E; Waterfall, Joshua J JJ; Pine, Sharon R SR; Simmons, John J; Meltzer, Paul P; Ryan, Bríd M BM

Publication Date: 2019-12-16

Variant appearance in text: CREBBP: Q1491*

PubMed Link: 31844068

Variant Present in the following documents:

• 41467_2019_13732_MOESM8_ESM.xlsx, sheet 1
• 41467_2019_13732_MOESM7_ESM.xlsx, sheet 1

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Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Nature

Miller, Alexandra M AM; Shah, Ronak H RH; Pentsova, Elena I EI; Pourmaleki, Maryam M; Briggs, Samuel S; Distefano, Natalie N; Zheng, Youyun Y; Skakodub, Anna A; Mehta, Smrutiben A SA; Campos, Carl C; Hsieh, Wan-Ying WY; Selcuklu, S Duygu SD; Ling, Lilan L; Meng, Fanli F; Jing, Xiaohong X; Samoila, Aliaksandra A; Bale, Tejus A TA; Tsui, Dana W Y DWY; Grommes, Christian C; Viale, Agnes A; Souweidane, Mark M MM; Tabar, Viviane V; Brennan, Cameron W CW; Reiner, Anne S AS; Rosenblum, Marc M; Panageas, Katherine S KS; DeAngelis, Lisa M LM; Young, Robert J RJ; Berger, Michael F MF; Mellinghoff, Ingo K IK

Publication Date: 2019-01

Variant appearance in text: CREBBP: 4471C>T; Q1491*

PubMed Link: 30675060

Variant Present in the following documents:

• NIHMS1516901-supplement-Sup_Table_5.xlsx, sheet 1

View BVdb publication page