Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

por Tominaga, Makiko, Hamanoue, Satoshi, Goto, Hiroaki, Saito, Toshiyuki, Nagai, Jun-ichi, Masuno, Mitsuo, Umeda, You, Kurosawa, Kenji
Publicado 2019

Novel USP9X variants in two patients with X-linked intellectual disability

por Tsurusaki, Yoshinori, Kuroda, Yukiko, Yamanouchi, Yasuko, Kondo, Eisuke, Ouchi, Kazunobu, Kimura, Yuichi, Enomoto, Yumi, Aida, Noriko, Masuno, Mitsuo, Kurosawa, Kenji
Publicado 2019

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay

por Moriwaki, Takahito, Masuno, Mitsuo, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Takao, Kayo, Tawa, Kazumi, Yamanouchi, Yasuko, Miki, Atsushi, Otomo, Takanobu
Publicado 2023

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome

por Sofronova, Viktoriia, Fukushima, Yu, Masuno, Mitsuo, Naka, Mami, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Moriwaki, Takahito, Iwata, Rina, Terawaki, Seigo, Yamanouchi, Yasuko, Otomo, Takanobu
Publicado 2022

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

por Greene, Daniel, Pirri, Daniela, Frudd, Karen, Sackey, Ege, Al-Owain, Mohammed, Giese, Arnaud P. J., Ramzan, Khushnooda, Riaz, Sehar, Yamanaka, Itaru, Boeckx, Nele, Thys, Chantal, Gelb, Bruce D., Brennan, Paul, Hartill, Verity, Harvengt, Julie, Kosho, Tomoki, Mansour, Sahar, Masuno, Mitsuo, Ohata, Takako, Stewart, Helen, Taibah, Khalid, Turner, Claire L. S., Imtiaz, Faiqa, Riazuddin, Saima, Morisaki, Takayuki, Ostergaard, Pia, Loeys, Bart L., Morisaki, Hiroko, Ahmed, Zubair M., Birdsey, Graeme M., Freson, Kathleen, Mumford, Andrew, Turro, Ernest
Publicado 2023