Tatsuro Kondoh

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

Transcriptional Dysregulation in NIPBL and Cohesin Mutant Human Cells

Jinglan Liu, Zhe Zhang, Masashige Bando et al. · PLoS Biology · 2009 · 227 citations · Full text

Chromatin, Transcriptional Regulation, Developmental Biology +13

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa et al. · Human Mutation · 2003 · 137 citations

Down Syndrome, Sotos Syndrome, Developmental Anomaly +14

Molecular characterization of inv dup del(8p): Analysis of five cases

Osamu Shimokawa, Kenji Kurosawa, Tomoko Ida et al. · American Journal of Medical Genetics Part A · 2004 · 132 citations

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi et al. · Journal of Human Genetics · 2005 · 131 citations · Full text

Signal Transduction, Signaling Pathway, Genetic Disorder +10