Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

Por Masuda, Koji, Akiyama, Kazuhiro, Arakawa, Michiko, Nishi, Eriko, Kitazawa, Noritaka, Higuchi, Tsukasa, Katou, Yuki, Shirahige, Katsuhiko, Izumi, Kosuke
Publicado no Mol Syndromol (2015)

A Taz1- and Microtubule-Dependent Regulatory Relationship between Telomere and Centromere Positions in Bouquet Formation Secures Proper Meiotic Divisions

Por Katsumata, Kazuhiro, Hirayasu, Ami, Miyoshi, Junpei, Nishi, Eriko, Ichikawa, Kento, Tateho, Kazuki, Wakuda, Airi, Matsuhara, Hirotada, Yamamoto, Ayumu
Publicado no PLoS Genet (2016)

Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome

Por Shimojima, Keiko, Ondo, Yumiko, Nishi, Eriko, Mizuno, Seiji, Ito, Miharu, Ioi, Aya, Shimizu, Mariko, Sato, Maho, Inoue, Masami, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Publicado no Hum Genome Var (2016)

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Por Izumi, Kosuke, Brett, Maggie, Nishi, Eriko, Drunat, Séverine, Tan, Ee-Shien, Fujiki, Katsunori, Lebon, Sophie, Cham, Breana, Masuda, Koji, Arakawa, Michiko, Jacquinet, Adeline, Yamazumi, Yusuke, Chen, Shu-Ting, Verloes, Alain, Okada, Yuki, Katou, Yuki, Nakamura, Tomohiko, Akiyama, Tetsu, Gressens, Pierre, Foo, Roger, Passemard, Sandrine, Tan, Ene-Choo, El Ghouzzi, Vincent, Shirahige, Katsuhiko
Publicado no Am J Hum Genet (2016)