Publications:

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: NF1: Q97X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers

Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P

Publication Date: 2022-01-06

Variant appearance in text: NF1: 289C>T

PubMed Link: 35053433

Variant Present in the following documents:

• Main text
• cancers-14-00269.pdf

View BVdb publication page

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Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers

Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P

Publication Date: 2022-01-06

Variant appearance in text: NF1: 289C>T

PubMed Link: 35053433

Variant Present in the following documents:

• Main text
• cancers-14-00269.pdf

View BVdb publication page

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Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy

Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y

Publication Date: 2021-02-10

Variant appearance in text: NF1: Gln97*

PubMed Link: 33563892

Variant Present in the following documents:

• 41392_2020_412_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: NF1: Q97*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet Journal Of Rare Diseases

Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H

Publication Date: 2019-09-18

Variant appearance in text: NF1: Gln97*

PubMed Link: 31533797

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1196.pdf

View BVdb publication page

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MAX inactivation is an early event in GIST development that regulates p16 and cell proliferation.

Nature Communications

Schaefer, Inga-Marie IM; Wang, Yuexiang Y; Liang, Cher-Wei CW; Bahri, Nacef N; Quattrone, Anna A; Doyle, Leona L; Mariño-Enríquez, Adrian A; Lauria, Alexandra A; Zhu, Meijun M; Debiec-Rychter, Maria M; Grunewald, Susanne S; Hechtman, Jaclyn F JF; Dufresne, Armelle A; Antonescu, Cristina R CR; Beadling, Carol C; Sicinska, Ewa T ET; van de Rijn, Matt M; Demetri, George D GD; Ladanyi, Marc M; Corless, Christopher L CL; Heinrich, Michael C MC; Raut, Chandrajit P CP; Bauer, Sebastian S; Fletcher, Jonathan A JA

Publication Date: 2017-03-08

Variant appearance in text: NF1: Q97*

PubMed Link: 28270683

Variant Present in the following documents:

• ncomms14674-s3.xlsx, sheet 1

View BVdb publication page

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