
Kosuke Izumi MD
Clinical Genetics, Pediatric Medical Genetics
Physician
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5323 Harry Hines BoulevardDallas, TX 75390
Phone+1 214-456-2357
Fax+1 214-456-2567
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Education & Training
Case Western Reserve Univ/Univ Hosps Cleveland Med Ctr/Rainbow Babies and Childrens HospitalResidency, Pediatrics, 2012
Case Western Reserve University/University Hospitals Cleveland Medical CenterResidency, Pediatrics/Medical Genetics and Genomics, 2007 - 2010
Keio Gujuku University School of MedicineClass of 2003
Certifications & Licensure
TX State Medical License 2023 - 2028
PA State Medical License 2010 - 2024
OH State Medical License 2007 - 2011
American Board of Pediatrics Pediatrics
American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Publications & Presentations
PubMed
- De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets
Nature Communications. 2026-01-23 - Characterization of CTNND2-related neurodevelopmental disease, phenotype-genotype spectrum and WNT dynamics in early neurogenesis.Mansoureh Shahsavani, Josephine Wincent, Ricarda Reiter, Andrea Soltysova, Jakob Schuy
Research Square. 2025-12-30 - Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population.Eden Teferedegn, Kosuke Izumi, Rebecca Ahrens-Nicklas, Elizabeth Bhoj, Alyssa Rippert
American Journal of Medical Genetics. Part A. 2025-10-01
Journal Articles
- Variable Clinical Manifestations of Xia‐Gibbs Syndrome: Findings of Consecutively Identified Cases at a Single Children's HospitalCarey McDougall, Elaine H Zackai, Paige Kaplan, Kosuke Izumi, Emma C Bedoukian, Stephanie B Asher, Livija Medne, Ian D Krantz, American Journal of Medical Genetics Part A
Press Mentions
- New Neurodevelopmental Syndrome and NKAP GeneNovember 7th, 2019
New Genetic Syndrome Tied to Defects in Protein TransportJuly 28th, 2016
Grant Support
- Role of HP1β-mediated heterochromatin organization in neurodevelopmental disorders: CBX1-related syndrome as a modelUT SOUTHWESTERN MEDICAL CENTER2025–2030
- Elucidating the effects of extra chromosome elimination in mosaic aneuploidy syndromes: Pallister-Killian syndrome as a modelUT SOUTHWESTERN MEDICAL CENTER2023–2025
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