Publications:

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: TSC2: 3710C>T; A1237V

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 3
• Table_2.xlsx, sheet 2

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TSC2: A1237V; rs753907159

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.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: A1237V

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: TSC2: 3710C>T; A1237V

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: TSC2: 3710C>T; A1237V

PubMed Link: 35273153

Variant Present in the following documents:

• 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: TSC2: 3710C>T; A1237V

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.

Human Genomics

Nassir, Nasna N; Bankapur, Asma A; Samara, Bisan B; Ali, Abdulrahman A; Ahmed, Awab A; Inuwa, Ibrahim M IM; Zarrei, Mehdi M; Safizadeh Shabestari, Seyed Ali SA; AlBanna, Ammar A; Howe, Jennifer L JL; Berdiev, Bakhrom K BK; Scherer, Stephen W SW; Woodbury-Smith, Marc M; Uddin, Mohammed M

Publication Date: 2021-11-21

Variant appearance in text: TSC2: A1237V; rs753907159

PubMed Link: 34802461

Variant Present in the following documents:

• 40246_2021_368_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Scientific Reports

Alonso-Gonzalez, A A; Calaza, M M; Amigo, J J; González-Peñas, J J; Martínez-Regueiro, R R; Fernández-Prieto, M M; Parellada, M M; Arango, C C; Rodriguez-Fontenla, Cristina C; Carracedo, A A

Publication Date: 2021-01-11

Variant appearance in text: TSC2: A1237V

PubMed Link: 33431980

Variant Present in the following documents:

• 41598_2020_79412_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.

Cell Reports

Wang, Sheng S; Mandell, Jeffrey D JD; Kumar, Yogesh Y; Sun, Nawei N; Morris, Montana T MT; Arbelaez, Juan J; Nasello, Cara C; Dong, Shan S; Duhn, Clif C; Zhao, Xin X; Yang, Zhiyu Z; Padmanabhuni, Shanmukha S SS; Yu, Dongmei D; King, Robert A RA; Dietrich, Andrea A; Khalifa, Najah N; Dahl, Niklas N; Huang, Alden Y AY; Neale, Benjamin M BM; Coppola, Giovanni G; Mathews, Carol A CA; Scharf, Jeremiah M JM; , ; , ; , ; Fernandez, Thomas V TV; Buxbaum, Joseph D JD; De Rubeis, Silvia S; Grice, Dorothy E DE; Xing, Jinchuan J; Heiman, Gary A GA; Tischfield, Jay A JA; Paschou, Peristera P; Willsey, A Jeremy AJ; State, Matthew W MW

Publication Date: 2018-09-25

Variant appearance in text: TSC2: A1237V

PubMed Link: 30257206

Variant Present in the following documents:

• NIHMS1508956-supplement-3.xlsx, sheet 1

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: A1237V

PubMed Link: 29296220

Variant Present in the following documents:

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

View BVdb publication page

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Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Nature Genetics

Jin, Sheng Chih SC; Homsy, Jason J; Zaidi, Samir S; Lu, Qiongshi Q; Morton, Sarah S; DePalma, Steven R SR; Zeng, Xue X; Qi, Hongjian H; Chang, Weni W; Sierant, Michael C MC; Hung, Wei-Chien WC; Haider, Shozeb S; Zhang, Junhui J; Knight, James J; Bjornson, Robert D RD; Castaldi, Christopher C; Tikhonoa, Irina R IR; Bilguvar, Kaya K; Mane, Shrikant M SM; Sanders, Stephan J SJ; Mital, Seema S; Russell, Mark W MW; Gaynor, J William JW; Deanfield, John J; Giardini, Alessandro A; Porter, George A GA; Srivastava, Deepak D; Lo, Cecelia W CW; Shen, Yufeng Y; Watkins, W Scott WS; Yandell, Mark M; Yost, H Joseph HJ; Tristani-Firouzi, Martin M; Newburger, Jane W JW; Roberts, Amy E AE; Kim, Richard R; Zhao, Hongyu H; Kaltman, Jonathan R JR; Goldmuntz, Elizabeth E; Chung, Wendy K WK; Seidman, Jonathan G JG; Gelb, Bruce D BD; Seidman, Christine E CE; Lifton, Richard P RP; Brueckner, Martina M

Publication Date: 2017-11

Variant appearance in text: TSC2: A1237V

PubMed Link: 28991257

Variant Present in the following documents:

• NIHMS906719-supplement-supp_datasets.xlsx, sheet 10

View BVdb publication page

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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: TSC2: 3710C>T; Ala1237Val

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-3.xlsx, sheet 1

View BVdb publication page

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De novo genic mutations among a Chinese autism spectrum disorder cohort.

Nature Communications

Wang, Tianyun T; Guo, Hui H; Xiong, Bo B; Stessman, Holly A F HA; Wu, Huidan H; Coe, Bradley P BP; Turner, Tychele N TN; Liu, Yanling Y; Zhao, Wenjing W; Hoekzema, Kendra K; Vives, Laura L; Xia, Lu L; Tang, Meina M; Ou, Jianjun J; Chen, Biyuan B; Shen, Yidong Y; Xun, Guanglei G; Long, Min M; Lin, Janice J; Kronenberg, Zev N ZN; Peng, Yu Y; Bai, Ting T; Li, Honghui H; Ke, Xiaoyan X; Hu, Zhengmao Z; Zhao, Jingping J; Zou, Xiaobing X; Xia, Kun K; Eichler, Evan E EE

Publication Date: 2016-11-08

Variant appearance in text: TSC2: A1237V

PubMed Link: 27824329

Variant Present in the following documents:

• ncomms13316-s7.xlsx, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: TSC2: A1237V

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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