Publications:

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Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations.

Nature Genetics

Liu, Dongjing D; Meyer, Dara D; Fennessy, Brian B; Feng, Claudia C; Cheng, Esther E; Johnson, Jessica S JS; Park, You Jeong YJ; Rieder, Marysia-Kolbe MK; Ascolillo, Steven S; de Pins, Agathe A; Dobbyn, Amanda A; Lebovitch, Dannielle D; Moya, Emily E; Nguyen, Tan-Hoang TH; Wilkins, Lillian L; Hassan, Arsalan A; , ; Burdick, Katherine E KE; Buxbaum, Joseph D JD; Domenici, Enrico E; Frangou, Sophia S; Hartmann, Annette M AM; Laurent-Levinson, Claudine C; Malhotra, Dheeraj D; Pato, Carlos N CN; Pato, Michele T MT; Ressler, Kerry K; Roussos, Panos P; Rujescu, Dan D; Arango, Celso C; Bertolino, Alessandro A; Blasi, Giuseppe G; Bocchio-Chiavetto, Luisella L; Campion, Dominique D; Carr, Vaughan V; Fullerton, Janice M JM; Gennarelli, Massimo M; González-Peñas, Javier J; Levinson, Douglas F DF; Mowry, Bryan B; Nimgaokar, Vishwajit L VL; Pergola, Giulio G; Rampino, Antonio A; Cervilla, Jorge A JA; Rivera, Margarita M; Schwab, Sibylle G SG; Wildenauer, Dieter B DB; Daly, Mark M; Neale, Benjamin B; Singh, Tarjinder T; O'Donovan, Michael C MC; Owen, Michael J MJ; Walters, James T JT; Ayub, Muhammad M; Malhotra, Anil K AK; Lencz, Todd T; Sullivan, Patrick F PF; Sklar, Pamela P; Stahl, Eli A EA; Huckins, Laura M LM; Charney, Alexander W AW

Publication Date: 2023-03

Variant appearance in text: GRIN2A: Arg586Lys

PubMed Link: 36914870

Variant Present in the following documents:

• 41588_2023_1305_MOESM4_ESM.xlsx, sheet 8

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: GRIN2A: R586K; rs768958947

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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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: 1757G>A; R586K

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

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: 1757G>A; R586K

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: GRIN2A: 1757G>A

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine

Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z

Publication Date: 2020-05

Variant appearance in text: GRIN2A: 1757G>A

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s008.xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: GRIN2A: 1757G>A; R586K

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Excitotoxic superoxide production and neuronal death require both ionotropic and non-ionotropic NMDA receptor signaling.

Scientific Reports

Minnella, Angela M AM; Zhao, Jerry X JX; Jiang, Xiangning X; Jakobsen, Emil E; Lu, Fuxin F; Wu, Long L; El-Benna, Jamel J; Gray, John A JA; Swanson, Raymond A RA

Publication Date: 2018-11-30

Variant appearance in text: GluN2A: R586K

PubMed Link: 30504838

Variant Present in the following documents:

• 41598_2018_Article_35725.pdf

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: GRIN2A: R586K; rs768958947

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

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: 1757G>A

PubMed Link: 29124671

Variant Present in the following documents:

• Main text

View BVdb publication page

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Functional assessment of the NMDA receptor variant GluN2A R586K.

Wellcome Open Research

Marwick, Katie F M KFM; Parker, Peter P; Skehel, Paul P; Hardingham, Giles G; Wyllie, David J A DJA

Publication Date: 2017-03-17

Variant appearance in text: GluN2A: R586K

PubMed Link: 28459106

Variant Present in the following documents:

• Main text
• wellcomeopenres-2-12411.pdf

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: 1757G>A; R586K

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

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: 1757G>A; R586K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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: 1757G>A; R586K

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

View BVdb publication page

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Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.

European Journal Of Human Genetics : Ejhg

Della Mina, Erika E; Ciccone, Roberto R; Brustia, Francesca F; Bayindir, Baran B; Limongelli, Ivan I; Vetro, Annalisa A; Iascone, Maria M; Pezzoli, Laura L; Bellazzi, Riccardo R; Perotti, Gianfranco G; De Giorgis, Valentina V; Lunghi, Simona S; Coppola, Giangennaro G; Orcesi, Simona S; Merli, Pietro P; Savasta, Salvatore S; Veggiotti, Pierangelo P; Zuffardi, Orsetta O

Publication Date: 2015-03

Variant appearance in text: GRIN2A: 1757G>A; Arg586Lys

PubMed Link: 24848745

Variant Present in the following documents:

• Main text

View BVdb publication page

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