Kosuke Izumi

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

Kosuke Izumi, Ryuichiro Nakato, Zhe Zhang et al. · Nature Genetics · 2015 · 144 citations · Full text

Developmental Anomaly, Developmental Biology, Genetic Disorder +11

Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease

Mehul Sharma, Daniel Leung, Mana Momenilandi et al. · The Journal of Experimental Medicine · 2023 · 99 citations · Full text

Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases

Alisha Wilkens, Hongbin Liu, Kristen Park et al. · American Journal of Medical Genetics Part A · 2012 · 95 citations

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

Kosuke Izumi, Maggie Brett, Eriko Nishi et al. · The American Journal of Human Genetics · 2016 · 83 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy

Jennifer M. Kalish, Laura K. Conlin, Tricia Bhatti et al. · American Journal of Medical Genetics Part A · 2013 · 76 citations