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Kosuke Izumi

Assistant Professor at UT Southwestern Medical Center · Children's Health Andrews Institute

Credentials: · · · · ·

History

Children's Health Andrews Institute
Present
University of Texas Southwestern Medical Center
Present

The University of Tokyo Institute of Molecular
2015–2016
The University of Tokyo Institute of Molecular Cel
2013–2016
Children's Hospital of Philadelphia
2012–2013
Medical Genetics and Genomics
Children's Hospital of Philadelphia
2010–2012
Pediatrics
Case Western Reserve University/University Hospitals Cleveland Medical Center
2007–2010
Medical Genetics and Genomics
Case Western Reserve University/University Hospitals Cleveland Medical Center
2008–2010
Keio University
2006–2007
Keio University
2003–2005
The University of Tokyo Institute of Molecular Cel
Keio University School of Medicine
1999–2003

Research

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
Case report · Nature Genetics · 2015 · First of 22 authors · 119 citations
Underlying genetic diagnosis of Pierre Robin sequence: retrospective chart review at two children's hospitals and a systematic literature review
Systematic review or meta-analysis · The Journal of Pediatrics · 2012 · First of 4 authors · 114 citations
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
The Journal of Experimental Medicine · 2023 · 101 citations

Ian Krantz
28 papers
Elaine Zackai
27 papers
Alisha Wilkens
14 papers
Matthew Deardorff
14 papers
Cara Skraban
13 papers
Elizabeth Bhoj
10 papers
Livija Medne
10 papers
Andrew Edmondson
5 papers · 3 as a resident
Rebecca Ahrens-Nicklas
5 papers
Alejandro Iglesias
4 papers
Hakon Hakonarson
4 papers
James Lupski
4 papers

Grants

Role of HP1β-Mediated Heterochromatin Organization in Neurodevelopmental Disorders: CBX1-Related Syndrome as a Model
National Institute of Neurological Disorders and Stroke · K02
Contact PI · $529.2K · Ut Southwestern Medical Center
2025–2030
Elucidating the Effects of Extra Chromosome Elimination in Mosaic Aneuploidy Syndromes: Pallister-Killian Syndrome as a Model
National Institute of Child Health and Human Development · R21
Contact PI · $498.6K · Ut Southwestern Medical Center
2022–2025