1. A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders. Issue 7 (12th June 2020) Authors: Suzuki, Toshimitsu; Suzuki, Toshifumi; Raveau, Matthieu; Miyake, Noriko; Sudo, Genki; Tsurusaki, Yoshinori; Watanabe, Takaki; Sugaya, Yuki; Tatsukawa, Tetsuya; Mazaki, Emi; Shimohata, Atsushi; Kushima, Itaru; Aleksic, Branko; Shiino, Tomoko; Toyota, Tomoko; Iwayama, Yoshimi; Nakaoka, Kentaro; Ohm... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 7(2020) Page Start: 1117 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Brain ventriculomegaly in Down syndrome mice is caused by Pcp4 dose-dependent cilia dysfunction. (9th January 2017) Authors: Raveau, Matthieu; Nakahari, Takashi; Asada, Sachie; Ishihara, Keiichi; Amano, Kenji; Shimohata, Atsushi; Sago, Haruhiko; Yamakawa, Kazuhiro Journal: Human molecular genetics Issue: Volume 26:Number 5(2017:Mar. 01) Page Start: 923 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗