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: FAT1: 3649G>T; Val1217Leu

PubMed Link: 35468861

Variant Present in the following documents:

• 13073_2022_1042_MOESM2_ESM.xls, sheet 4

View BVdb publication page

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

Annals Of Clinical And Translational Neurology

Suzuki, Toshimitsu T; Suzuki, Toshifumi T; Raveau, Matthieu M; Miyake, Noriko N; Sudo, Genki G; Tsurusaki, Yoshinori Y; Watanabe, Takaki T; Sugaya, Yuki Y; Tatsukawa, Tetsuya T; Mazaki, Emi E; Shimohata, Atsushi A; Kushima, Itaru I; Aleksic, Branko B; Shiino, Tomoko T; Toyota, Tomoko T; Iwayama, Yoshimi Y; Nakaoka, Kentaro K; Ohmori, Iori I; Sasaki, Aya A; Watanabe, Ken K; Hirose, Shinichi S; Kaneko, Sunao S; Inoue, Yushi Y; Yoshikawa, Takeo T; Ozaki, Norio N; Kano, Masanobu M; Shimoji, Takeyoshi T; Matsumoto, Naomichi N; Yamakawa, Kazuhiro K

Publication Date: 2020-07

Variant appearance in text: FAT1: 3649G>T; Val1217Leu

PubMed Link: 32530565

Variant Present in the following documents:

• ACN3-7-1117-s002.pdf

View BVdb publication page

Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: FAT1: Val1217Leu

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page