Publications:

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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: GRIN2A: 3827C>G; A1276G

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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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs145063086

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs145063086

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 8

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: GRIN2A: 3827C>G; A1276G

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 8
• 13073_2019_654_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.

Bmc Genetics

Kessi, Miriam M; Peng, Jing J; Yang, Lifen L; Xiong, Juan J; Duan, Haolin H; Pang, Nan N; Yin, Fei F

Publication Date: 2018-07-06

Variant appearance in text: GRIN2A: 3827C>G

PubMed Link: 29976148

Variant Present in the following documents:

• Main text
• 12863_2018_Article_628.pdf

View BVdb publication page

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A computational approach to distinguish somatic vs. germline origin of genomic alterations from deep sequencing of cancer specimens without a matched normal.

Plos Computational Biology

Sun, James X JX; He, Yuting Y; Sanford, Eric E; Montesion, Meagan M; Frampton, Garrett M GM; Vignot, Stéphane S; Soria, Jean-Charles JC; Ross, Jeffrey S JS; Miller, Vincent A VA; Stephens, Phil J PJ; Lipson, Doron D; Yelensky, Roman R

Publication Date: 2018-02

Variant appearance in text: GRIN2A: A1276G; rs145063086

PubMed Link: 29415044

Variant Present in the following documents:

• pcbi.1005965.s007.pdf

View BVdb publication page

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Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Luo, Jian-Hong JH

Publication Date: 2018-06

Variant appearance in text: GRIN2A: 3827C>G

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: GRIN2A: 3827C>G; Ala1276Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Neuroscience Bulletin

Wei, Feng F; Yan, Li-Min LM; Su, Tao T; He, Na N; Lin, Zhi-Jian ZJ; Wang, Jie J; Shi, Yi-Wu YW; Yi, Yong-Hong YH; Liao, Wei-Ping WP

Publication Date: 2017-08

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging

Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,

Publication Date: 2016-12

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 27640074

Variant Present in the following documents:

• Main text
• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 6
• mmc2.xlsx, sheet 5

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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De novo KCNB1 mutations in epileptic encephalopathy.

Annals Of Neurology

Torkamani, Ali A; Bersell, Kevin K; Jorge, Benjamin S BS; Bjork, Robert L RL; Friedman, Jennifer R JR; Bloss, Cinnamon S CS; Cohen, Julie J; Gupta, Siddharth S; Naidu, Sakkubai S; Vanoye, Carlos G CG; George, Alfred L AL; Kearney, Jennifer A JA

Publication Date: 2014-10

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 25164438

Variant Present in the following documents:

• Main text

View BVdb publication page

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Somatic mutation of GRIN2A in malignant melanoma results in loss of tumor suppressor activity via aberrant NMDAR complex formation.

The Journal Of Investigative Dermatology

Prickett, Todd D TD; Zerlanko, Brad J BJ; Hill, Victoria K VK; Gartner, Jared J JJ; Qutob, Nouar N; Jiang, Jiji J; Simaan, May M; Wunderlich, John J; Gutkind, J Silvio JS; Rosenberg, Steven A SA; Samuels, Yardena Y

Publication Date: 2014-09

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 24739903

Variant Present in the following documents:

• NIHMS585518-supplement-supplement_1.pdf

View BVdb publication page

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Clustered coding variants in the glutamate receptor complexes of individuals with schizophrenia and bipolar disorder.

Plos One

Frank, René A W RA; McRae, Allan F AF; Pocklington, Andrew J AJ; van de Lagemaat, Louie N LN; Navarro, Pau P; Croning, Mike D R MD; Komiyama, Noboru H NH; Bradley, Sophie J SJ; Challiss, R A John RA; Armstrong, J Douglas JD; Finn, Robert D RD; Malloy, Mary P MP; MacLean, Alan W AW; Harris, Sarah E SE; Starr, John M JM; Bhaskar, Sanjeev S SS; Howard, Eleanor K EK; Hunt, Sarah E SE; Coffey, Alison J AJ; Ranganath, Venkatesh V; Deloukas, Panos P; Rogers, Jane J; Muir, Walter J WJ; Deary, Ian J IJ; Blackwood, Douglas H DH; Visscher, Peter M PM; Grant, Seth G N SG

Publication Date: 2011-04-29

Variant appearance in text: GRIN2A: A1276G

PubMed Link: 21559497

Variant Present in the following documents:

• pone.0019011.s003.xls, sheet 2

View BVdb publication page

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