Publications:

Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine

Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N

Publication Date: 2022-04-26

Variant appearance in text: LRP1B: 12976C>T; His4326Tyr

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 4

View BVdb publication page

Cell-free DNA captures tumor heterogeneity and driver alterations in rapid autopsies with pre-treated metastatic cancer.

Nature Communications

Pereira, Bernard B; Chen, Christopher T CT; Goyal, Lipika L; Walmsley, Charlotte C; Pinto, Christopher J CJ; Baiev, Islam I; Allen, Read R; Henderson, Laura L; Saha, Supriya S; Reyes, Stephanie S; Taylor, Martin S MS; Fitzgerald, Donna M DM; Broudo, Maida Williams MW; Sahu, Avinash A; Gao, Xin X; Winckler, Wendy W; Brannon, A Rose AR; Engelman, Jeffrey A JA; Leary, Rebecca R; Stone, James R JR; Campbell, Catarina D CD; Juric, Dejan D

Publication Date: 2021-05-27

Variant appearance in text: LRP1B: H4326Y

PubMed Link: 34045463

Variant Present in the following documents:

• 41467_2021_23394_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page