Publications:

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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: 4375A>G; Ser1459Gly

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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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: S1459G; rs869312681

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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NMDA Receptor C-Terminal Domain Signalling in Development, Maturity, and Disease.

International Journal Of Molecular Sciences

Haddow, Kirsty K; Kind, Peter C PC; Hardingham, Giles E GE

Publication Date: 2022-09-27

Variant appearance in text: GluN2A: S1459G

PubMed Link: 36232696

Variant Present in the following documents:

• Main text
• ijms-23-11392.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: GluN2A: S1459G

PubMed Link: 34753794

Variant Present in the following documents:

• Main text

View BVdb publication page

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Regulation of NMDA receptor trafficking and gating by activity-dependent CaMKIIα phosphorylation of the GluN2A subunit.

Cell Reports

Yong, Xuan Ling Hilary XLH; Zhang, Lingrui L; Yang, Liming L; Chen, Xiumin X; Tan, Jing Zhi Anson JZA; Yu, Xiaojun X; Chandra, Mintu M; Livingstone, Emma E; Widagdo, Jocelyn J; Vieira, Marta M MM; Roche, Katherine W KW; Lynch, Joseph W JW; Keramidas, Angelo A; Collins, Brett M BM; Anggono, Victor V

Publication Date: 2021-07-06

Variant appearance in text: GRIN2A: 4375A>G

PubMed Link: 34233182

Variant Present in the following documents:

• Main text
• NIHMS1722140-supplement-1.pdf
• nihms-1722140.pdf

View BVdb publication page

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Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology

Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z

Publication Date: 2021-08

Variant appearance in text: GRIN2A: 4375A>G; S1459G

PubMed Link: 33860439

Variant Present in the following documents:

• 12035_2021_2377_MOESM14_ESM.xlsx, sheet 1

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: 4375A>G; Ser1459Gly

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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Genomic diagnosis for children with intellectual disability and/or developmental delay.

Genome Medicine

Bowling, Kevin M KM; Thompson, Michelle L ML; Amaral, Michelle D MD; Finnila, Candice R CR; Hiatt, Susan M SM; Engel, Krysta L KL; Cochran, J Nicholas JN; Brothers, Kyle B KB; East, Kelly M KM; Gray, David E DE; Kelley, Whitley V WV; Lamb, Neil E NE; Lose, Edward J EJ; Rich, Carla A CA; Simmons, Shirley S; Whittle, Jana S JS; Weaver, Benjamin T BT; Nesmith, Amy S AS; Myers, Richard M RM; Barsh, Gregory S GS; Bebin, E Martina EM; Cooper, Gregory M GM

Publication Date: 2017-05-30

Variant appearance in text: GRIN2A: 4375A>G; Ser1459Gly

PubMed Link: 28554332

Variant Present in the following documents:

• 13073_2017_433_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: GRIN2A: 4375A>G

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

View BVdb publication page

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