Publications:

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Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences

, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF

Publication Date: 2023-02-24

Variant appearance in text: GRIN2A: 2179G>A; Ala727Thr

PubMed Link: 36865150

Variant Present in the following documents:

• media-2.xlsx, sheet 9

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: GRIN2A: 2179G>A; Ala727Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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: A727T

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: A727T

PubMed Link: 35936491

Variant Present in the following documents:

• Main text
• fncel-16-907560.pdf

View BVdb publication page

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A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders.

Hgg Advances

Parikh, Jignesh R JR; Genetti, Casie A CA; Aykanat, Asli A; Brownstein, Catherine A CA; Schmitz-Abe, Klaus K; Danowski, Morgan M; Quitadomo, Andrew A; Madden, Jill A JA; Yacoubian, Calum C; Gain, Richard R; Williams, Tessa T; Meskell, Mary M; Brown, Andrew A; Frith, Alison A; Rockowitz, Shira S; Sliz, Piotr P; Agrawal, Pankaj B PB; Defay, Thomas T; McDonagh, Paul P; Reynders, John J; Lefebvre, Sebastien S; Beggs, Alan H AH

Publication Date: 2021-07

Variant appearance in text: GRIN2A: 2179G>A; Ala727Thr

PubMed Link: 34514437

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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: Ala727Thr

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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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: A727T

PubMed Link: 33796003

Variant Present in the following documents:

• Main text
• fnins-15-603715.pdf

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: 2179G>A

PubMed Link: 33240831

Variant Present in the following documents:

• Main text
• fped-08-574803.pdf

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: A727T

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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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: 2179G>A

PubMed Link: 32712275

Variant Present in the following documents:

• Main text

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: 2179G>A; A727T

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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Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Npj Genomic Medicine

Oates, Stephanie S; Tang, Shan S; Rosch, Richard R; Lear, Rosalie R; Hughes, Elaine F EF; Williams, Ruth E RE; Larsen, Line H G LHG; Hao, Qin Q; Dahl, Hans Atli HA; Møller, Rikke S RS; Pal, Deb K DK

Publication Date: 2018

Variant appearance in text: GRIN2A: 2179G>A; Ala727Thr

PubMed Link: 29760947

Variant Present in the following documents:

• Main text
• 41525_2018_Article_52.pdf

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: GRIN2A: A727T

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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: 2179G>A; Ala727Thr

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: A727T

PubMed Link: 28488083

Variant Present in the following documents:

• Main text

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: 2179G>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: 2179G>A; A727T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: GRIN2A: A727T

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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