Publications:

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: GRIN2B: S1019I; rs200265732

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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: GRIN2B: 3056G>T; Ser1019Ile; rs200265732

PubMed Link: 34212862

Variant Present in the following documents:

• elife-67555-supp2.xlsx, sheet 1

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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: S1019I

PubMed Link: 21559497

Variant Present in the following documents:

• pone.0019011.s003.xls, sheet 2

View BVdb publication page