Publications:

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder.

Nature Communications

Nishioka, Masaki M; Kazuno, An-A AA; Nakamura, Takumi T; Sakai, Naomi N; Hayama, Takashi T; Fujii, Kumiko K; Matsuo, Koji K; Komori, Atsuko A; Ishiwata, Mizuho M; Watanabe, Yoshinori Y; Oka, Takashi T; Matoba, Nana N; Kataoka, Muneko M; Alkanaq, Ahmed N AN; Hamanaka, Kohei K; Tsuboi, Takashi T; Sengoku, Toru T; Ogata, Kazuhiro K; Iwata, Nakao N; Ikeda, Masashi M; Matsumoto, Naomichi N; Kato, Tadafumi T; Takata, Atsushi A

Publication Date: 2021-06-18

Variant appearance in text: DICER1: 1126A>G; Lys376Glu

PubMed Link: 34145229

Variant Present in the following documents:

• 41467_2021_23453_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Nature Genetics

Kosmicki, Jack A JA; Samocha, Kaitlin E KE; Howrigan, Daniel P DP; Sanders, Stephan J SJ; Slowikowski, Kamil K; Lek, Monkol M; Karczewski, Konrad J KJ; Cutler, David J DJ; Devlin, Bernie B; Roeder, Kathryn K; Buxbaum, Joseph D JD; Neale, Benjamin M BM; MacArthur, Daniel G DG; Wall, Dennis P DP; Robinson, Elise B EB; Daly, Mark J MJ

Publication Date: 2017-04

Variant appearance in text: DICER1: 1126A>G; Lys376Glu

PubMed Link: 28191890

Variant Present in the following documents:

• NIHMS845776-supplement-5.xlsx, sheet 2

View BVdb publication page