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: 1323A>C; Lys441Asn

PubMed Link: 31440721

Variant Present in the following documents:

• EPI4-4-397-s003.xlsx, sheet 1

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Rare loss of function mutations in N-methyl-D-aspartate glutamate receptors and their contributions to schizophrenia susceptibility.

Translational Psychiatry

Yu, Yanjie Y; Lin, Yingni Y; Takasaki, Yuto Y; Wang, Chenyao C; Kimura, Hiroki H; Xing, Jingrui J; Ishizuka, Kanako K; Toyama, Miho M; Kushima, Itaru I; Mori, Daisuke D; Arioka, Yuko Y; Uno, Yota Y; Shiino, Tomoko T; Nakamura, Yukako Y; Okada, Takashi T; Morikawa, Mako M; Ikeda, Masashi M; Iwata, Nakao N; Okahisa, Yuko Y; Takaki, Manabu M; Sakamoto, Shinji S; Someya, Toshiyuki T; Egawa, Jun J; Usami, Masahide M; Kodaira, Masaki M; Yoshimi, Akira A; Oya-Ito, Tomoko T; Aleksic, Branko B; Ohno, Kinji K; Ozaki, Norio N

Publication Date: 2018-01-10

Variant appearance in text: GRIN2A: K441N

PubMed Link: 29317596

Variant Present in the following documents:

• Main text
• 41398_2017_Article_61.pdf

View BVdb publication page