Kosuke Izumi
Children's Hospital of Philadelphia(US)Southwestern Medical Center(US)University of Pennsylvania(US)The University of Texas Southwestern Medical Center(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomics and Chromatin Dynamics, RNA modifications and cancer
Most-Cited Works
- → Underlying Genetic Diagnosis of Pierre Robin Sequence: Retrospective Chart Review at Two Children’s Hospitals and a Systematic Literature Review(2011)157 cited
- → Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin(2015)146 cited
- → Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease(2023)103 cited
- → Novel clinical manifestations in Pallister–Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases(2012)95 cited
- → ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects(2016)84 cited
- → Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy(2013)76 cited