A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder

por Shimojima, Keiko, Ondo, Yumiko, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Publicado 2017

A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence

por Lu, Yongping, Ondo, Yumiko, Shimojima, Keiko, Osaka, Hitoshi, Yamamoto, Toshiyuki
Publicado 2017

A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene

por Sangu, Noriko, Okamoto, Nobuhiko, Shimojima, Keiko, Ondo, Yumiko, Nishikawa, Masanori, Yamamoto, Toshiyuki
Publicado 2016

Challenges in detecting genomic copy number aberrations using next-generation sequencing data and the eXome Hidden Markov Model: a clinical exome-first diagnostic approach

por Yamamoto, Toshiyuki, Shimojima, Keiko, Ondo, Yumiko, Imai, Katsumi, Chong, Pin Fee, Kira, Ryutaro, Amemiya, Mitsuhiro, Saito, Akira, Okamoto, Nobuhiko
Publicado 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 2016