Publications:

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: GRIN2A: 2191G>A; D731N

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

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Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: GluN2A: D731N

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.pdf

View BVdb publication page

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Protein quality control of N-methyl-D-aspartate receptors.

Frontiers In Cellular Neuroscience

Benske, Taylor M TM; Mu, Ting-Wei TW; Wang, Ya-Juan YJ

Publication Date: 2022

Variant appearance in text: GluN2A: D731N

PubMed Link: 35936491

Variant Present in the following documents:

• Main text
• fncel-16-907560.pdf

View BVdb publication page

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: GRIN2A: D731N

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: GRIN2A: D731N

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: GRIN2A: D731N

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5

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Roles of N-Methyl-D-Aspartate Receptors (NMDARs) in Epilepsy.

Frontiers In Molecular Neuroscience

Chen, Shuang S; Xu, Da D; Fan, Liu L; Fang, Zhi Z; Wang, Xiufeng X; Li, Man M

Publication Date: 2021

Variant appearance in text: GRIN2A: Asp731Asn

PubMed Link: 35069111

Variant Present in the following documents:

• Main text
• fnmol-14-797253.pdf

View BVdb publication page

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Structure, Function, and Pharmacology of Glutamate Receptor Ion Channels.

Pharmacological Reviews

Hansen, Kasper B KB; Wollmuth, Lonnie P LP; Bowie, Derek D; Furukawa, Hiro H; Menniti, Frank S FS; Sobolevsky, Alexander I AI; Swanson, Geoffrey T GT; Swanger, Sharon A SA; Greger, Ingo H IH; Nakagawa, Terunaga T; McBain, Chris J CJ; Jayaraman, Vasanthi V; Low, Chian-Ming CM; Dell'Acqua, Mark L ML; Diamond, Jeffrey S JS; Camp, Chad R CR; Perszyk, Riley E RE; Yuan, Hongjie H; Traynelis, Stephen F SF

Publication Date: 2021-10

Variant appearance in text: GRIN2A: D731N

PubMed Link: 34753794

Variant Present in the following documents:

• Main text
• pharmrev.120.000131.pdf

View BVdb publication page

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Three-dimensional missense tolerance ratio analysis.

Genome Research

Perszyk, Riley E RE; Kristensen, Anders S AS; Lyuboslavsky, Polina P; Traynelis, Stephen F SF

Publication Date: 2021-08

Variant appearance in text: GRIN2A: Asp731Asn

PubMed Link: 34301626

Variant Present in the following documents:

• supp_gr.275528.121_Supplemental_Dataset_2.xlsx, sheet 1

View BVdb publication page

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Two de novo GluN2B mutations affect multiple NMDAR-functions and instigate severe pediatric encephalopathy.

Elife

Kellner, Shai S; Abbasi, Abeer A; Carmi, Ido I; Heinrich, Ronit R; Garin-Shkolnik, Tali T; Hershkovitz, Tova T; Giladi, Moshe M; Haitin, Yoni Y; Johannesen, Katrine M KM; Steensbjerre Møller, Rikke R; Berlin, Shai S

Publication Date: 2021-07-02

Variant appearance in text: GRIN2A: D731N

PubMed Link: 34212862

Variant Present in the following documents:

• Main text
• elife-67555.pdf

View BVdb publication page

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The Extracellular Domains of GluN Subunits Play an Essential Role in Processing NMDA Receptors in the ER.

Frontiers In Neuroscience

Horak, Martin M; Barackova, Petra P; Langore, Emily E; Netolicky, Jakub J; Rivas-Ramirez, Paula P; Rehakova, Kristyna K

Publication Date: 2021

Variant appearance in text: GluN2A: D731N

PubMed Link: 33796003

Variant Present in the following documents:

• Main text
• fnins-15-603715.pdf

View BVdb publication page

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Ultraviolet radiation drives mutations in a subset of mucosal melanomas.

Nature Communications

Mundra, Piyushkumar A PA; Dhomen, Nathalie N; Rodrigues, Manuel M; Mikkelsen, Lauge Hjorth LH; Cassoux, Nathalie N; Brooks, Kelly K; Valpione, Sara S; Reis-Filho, Jorge S JS; Heegaard, Steffen S; Stern, Marc-Henri MH; Roman-Roman, Sergio S; Marais, Richard R

Publication Date: 2021-01-11

Variant appearance in text: GRIN2A: D731N

PubMed Link: 33431815

Variant Present in the following documents:

• 41467_2020_20432_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder.

Frontiers In Pediatrics

Li, Xiao X; Xie, Ling-Ling LL; Han, Wei W; Hong, Si-Qi SQ; Ma, Jian-Nan JN; Wang, Juan J; Jiang, Li L

Publication Date: 2020

Variant appearance in text: GluN2A: 2191G>A

PubMed Link: 33240831

Variant Present in the following documents:

• Main text
• fped-08-574803.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: GRIN2A: 2191G>A; D731N

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: GRIN2A: D731N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Targeting Ionotropic Glutamate Receptors in the Treatment of Epilepsy.

Current Neuropharmacology

Celli, Roberta R; Fornai, Francesco F

Publication Date: 2021

Variant appearance in text: GRIN2A: D731N

PubMed Link: 32867642

Variant Present in the following documents:

• Main text
• CN-19-747.pdf

View BVdb publication page

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Targeting Ionotropic Glutamate Receptors in the Treatment of Epilepsy.

Current Neuropharmacology

Celli, Roberta R; Fornai, Francesco F

Publication Date: 2021

Variant appearance in text: GRIN2A: D731N

PubMed Link: 32867642

Variant Present in the following documents:

• Main text
• CN-19-747.pdf

View BVdb publication page

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Positive allosteric modulators that target NMDA receptors rectify loss-of-function GRIN variants associated with neurological and neuropsychiatric disorders.

Neuropharmacology

Tang, Weiting W; Liu, Ding D; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2020-10-15

Variant appearance in text: GRIN2A: 2191G>A

PubMed Link: 32712275

Variant Present in the following documents:

• Main text

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: GRIN2A: D731N

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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Synaptic GluN2A-Containing NMDA Receptors: From Physiology to Pathological Synaptic Plasticity.

International Journal Of Molecular Sciences

Franchini, Luca L; Carrano, Nicolò N; Di Luca, Monica M; Gardoni, Fabrizio F

Publication Date: 2020-02-24

Variant appearance in text: GluN2A: D731N

PubMed Link: 32102377

Variant Present in the following documents:

• Main text
• ijms-21-01538.pdf

View BVdb publication page

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: GRIN2A: 2191G>A; D731N

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1

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: Asp731Asn

PubMed Link: 29976148

Variant Present in the following documents:

• Main text
• 12863_2018_Article_628.pdf

View BVdb publication page

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Surface Expression, Function, and Pharmacology of Disease-Associated Mutations in the Membrane Domain of the Human GluN2B Subunit.

Frontiers In Molecular Neuroscience

Vyklicky, Vojtech V; Krausova, Barbora B; Cerny, Jiri J; Ladislav, Marek M; Smejkalova, Tereza T; Kysilov, Bohdan B; Korinek, Miloslav M; Danacikova, Sarka S; Horak, Martin M; Chodounska, Hana H; Kudova, Eva E; Vyklicky, Ladislav L

Publication Date: 2018

Variant appearance in text: GluN2A: D731N

PubMed Link: 29681796

Variant Present in the following documents:

• Main text
• fnmol-11-00110.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: 2191G>A

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional Investigation of a GRIN2A Variant Associated with Rolandic Epilepsy.

Neuroscience Bulletin

Xu, Xing-Xing XX; Liu, Xiao-Rong XR; Fan, Cui-Ying CY; Lai, Jin-Xing JX; Shi, Yi-Wu YW; Yang, Wei W; Su, Tao T; Xu, Jun-Yu JY; Luo, Jian-Hong JH; Liao, Wei-Ping WP

Publication Date: 2018-04

Variant appearance in text: GluN2A: D731N

PubMed Link: 28936771

Variant Present in the following documents:

• Main text

View BVdb publication page

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Genome Research

Traynelis, Joshua J; Silk, Michael M; Wang, Quanli Q; Berkovic, Samuel F SF; Liu, Liping L; Ascher, David B DB; Balding, David J DJ; Petrovski, Slavé S

Publication Date: 2017-10

Variant appearance in text: GRIN2A: 2191G>A; Asp731Asn

PubMed Link: 28864458

Variant Present in the following documents:

• supp_gr.226589.117_Supplemental_Data_S1.xlsx, sheet 1

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: D731N

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: GRIN2A: 2191G>A; D731N

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue.

Scientific Reports

Addis, L L; Virdee, J K JK; Vidler, L R LR; Collier, D A DA; Pal, D K DK; Ursu, D D

Publication Date: 2017-02-27

Variant appearance in text: GluN2A: 2191G>A

PubMed Link: 28242877

Variant Present in the following documents:

• Main text

View BVdb publication page

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A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.

Plos One

Gao, Kai K; Tankovic, Anel A; Zhang, Yujia Y; Kusumoto, Hirofumi H; Zhang, Jin J; Chen, Wenjuan W; XiangWei, Wenshu W; Shaulsky, Gil H GH; Hu, Chun C; Traynelis, Stephen F SF; Yuan, Hongjie H; Jiang, Yuwu Y

Publication Date: 2017

Variant appearance in text: GRIN2A: 2191G>A

PubMed Link: 28182669

Variant Present in the following documents:

• Main text
• pone.0170818.pdf

View BVdb publication page

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Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.

American Journal Of Human Genetics

Swanger, Sharon A SA; Chen, Wenjuan W; Wells, Gordon G; Burger, Pieter B PB; Tankovic, Anel A; Bhattacharya, Subhrajit S; Strong, Katie L KL; Hu, Chun C; Kusumoto, Hirofumi H; Zhang, Jing J; Adams, David R DR; Millichap, John J JJ; Petrovski, Slavé S; Traynelis, Stephen F SF; Yuan, Hongjie H

Publication Date: 2016-12-01

Variant appearance in text: GluN2A: 2191G>A

PubMed Link: 27839871

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: GRIN2A: 2191G>A; D731N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.

Plos One

Zhang, Yujia Y; Kong, Weijing W; Gao, Yang Y; Liu, Xiaoyan X; Gao, Kai K; Xie, Han H; Wu, Ye Y; Zhang, Yuehua Y; Wang, Jingmin J; Gao, Feng F; Wu, Xiru X; Jiang, Yuwu Y

Publication Date: 2015

Variant appearance in text: GRIN2A: 2191G>A; Asp731Asn

PubMed Link: 26544041

Variant Present in the following documents:

• Main text
• pone.0141782.pdf

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GRIN2A: 2191G>A; D731N

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

View BVdb publication page

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