Publications:

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Epilepsia Open

Truty, Rebecca R; Patil, Nila N; Sankar, Raman R; Sullivan, Joseph J; Millichap, John J; Carvill, Gemma G; Entezam, Ali A; Esplin, Edward D ED; Fuller, Amy A; Hogue, Michelle M; Johnson, Britt B; Khouzam, Amirah A; Kobayashi, Yuya Y; Lewis, Rachel R; Nykamp, Keith K; Riethmaier, Darlene D; Westbrook, Jody J; Zeman, Michelle M; Nussbaum, Robert L RL; Aradhya, Swaroop S

Publication Date: 2019-09

Variant appearance in text: GRIN2A: 3178G>A; Asp1060Asn

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.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: GRIN2A: D1060N

PubMed Link: 21559497

Variant Present in the following documents:

• pone.0019011.s003.xls, sheet 2

View BVdb publication page