Publications:

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: TSC2: 4639G>A; Val1547Ile

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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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: TSC2: V1547I

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Safety of inactivated COVID-19 vaccine in tuberous sclerosis complex patients with epilepsy treated with rapamycin.

Seizure

Lu, Qian Q; Wang, Yang-Yang YY; Wang, Qiu-Hong QH; Tang, Li-Na LN; Yang, Xiao-Yan XY; Dun, Shuo S; Zou, Li-Ping LP

Publication Date: 2022-07

Variant appearance in text: TSC2: 4639G>A

PubMed Link: 35605444

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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PIM1 and CD79B Mutation Status Impacts the Outcome of Primary Diffuse Large B-Cell Lymphoma of the CNS.

Frontiers In Oncology

Zhou, Jihao J; Zuo, Min M; Li, Lifeng L; Li, Fang F; Ke, Peng P; Zhou, Yangying Y; Xu, Yaping Y; Gao, Xuan X; Guan, Yanfang Y; Xia, Xuefeng X; Yi, Xin X; Zhang, Xinyou X; Huang, Yuhua Y

Publication Date: 2022

Variant appearance in text: TSC2: 4639G>A; V1547I

PubMed Link: 35223507

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 4639G>A

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

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Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 4639G>A

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

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Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine

Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021-11

Variant appearance in text: TSC2: 4639G>A; Val1547Ile

PubMed Link: 34841677

Variant Present in the following documents:

• CTM2-11-e567-s004.xlsx, sheet 5

View BVdb publication page

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Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology

Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X

Publication Date: 2021

Variant appearance in text: TSC2: 4639G>A; V1547I

PubMed Link: 34712610

Variant Present in the following documents:

• DataSheet_1.xls, sheet 5

View BVdb publication page

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Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology

Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N

Publication Date: 2020

Variant appearance in text: TSC2: 4639G>A; V1547I

PubMed Link: 32373528

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery.

Brain Pathology (Zurich, Switzerland)

Benova, Barbora B; Jacques, Thomas S TS

Publication Date: 2019-07

Variant appearance in text: TSC2: 4639G>A; Val1547Ile

PubMed Link: 30485578

Variant Present in the following documents:

• Main text

View BVdb publication page

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Brain Somatic Mutations in Epileptic Disorders.

Molecules And Cells

Koh, Hyun Yong HY; Lee, Jeong Ho JH

Publication Date: 2018-10-31

Variant appearance in text: TSC2: 4639G>A

PubMed Link: 30352490

Variant Present in the following documents:

• Main text
• molce-41-10-881.pdf

View BVdb publication page

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Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: TSC2: V1547I

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: TSC2: V1547I; rs745895675

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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Somatic Mutations in TSC1 and TSC2 Cause Focal Cortical Dysplasia.

American Journal Of Human Genetics

Lim, Jae Seok JS; Gopalappa, Ramu R; Kim, Se Hoon SH; Ramakrishna, Suresh S; Lee, Minji M; Kim, Woo-Il WI; Kim, Junho J; Park, Sang Min SM; Lee, Junehawk J; Oh, Jung-Hwa JH; Kim, Heung Dong HD; Park, Chang-Hwan CH; Lee, Joon Soo JS; Kim, Sangwoo S; Kim, Dong Seok DS; Han, Jung Min JM; Kang, Hoon-Chul HC; Kim, Hyongbum Henry HH; Lee, Jeong Ho JH

Publication Date: 2017-03-02

Variant appearance in text: TSC2: 4639G>A; Val1547Ile

PubMed Link: 28215400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: TSC2: 4639G>A; V1547I

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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