Mitsuo Masuno

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Fred Petrif, Rachel H. Giles, Hans G. Dauwerse et al. · Nature · 1995 · 1.2K citations

Transcriptional Regulation, Rubinstein-taybi Syndrome, Mendelian Disorder +7

Haploinsufficiency of NSD1 causes Sotos syndrome

Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 655 citations

Clinical Disorders, Sotos Syndrome, Neurological Disorder +5

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR

Takeo Kubota, Shigeaki Nonoyama, Hidefumi Tonoki et al. · Human Genetics · 1999 · 225 citations

Chromatin, Chromatin Structure, Medicine +12

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Seiji Fukuda, Nobuyuki Shimozawa, Yasuyuki Suzuki et al. · PubMed · 1996 · 105 citations

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

Hiroki Kurahashi, Takahiro Nakayama, Yuko Osugi et al. · PubMed · 1996 · 89 citations · Full text