Publications:

A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: GRIN2B: V1322I; rs200255226

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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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: N/A

PubMed Link: 34212862

Variant Present in the following documents:

View BVdb publication page

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: GRIN2B: V1322I

PubMed Link: 21559497

Variant Present in the following documents:

• pone.0019011.s003.xls, sheet 2

View BVdb publication page