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Office
5323 Harry Hines Boulevard
Dallas, TX 75390Phone+1 214-456-2357Fax+1 214-456-2567
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 - 2026
- 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
- 13 citationsNuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.Kelly E Regan-Fendt, Kosuke Izumi
Human Genetics. 2024-04-01 - Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children.Anna Fetta, Francesco Toni, Ilaria Pettenuzzo, Emilia Ricci, Alessandro Rocca
Orphanet Journal of Rare Diseases. 2024-03-08 - 1 citationsBiallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.Aiko Iwata-Otsubo, Cara M Skraban, Atsunori Yoshimura, Toyonori Sakata, Cesar Augusto P Alves
Human Genetics. 2024-03-01
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
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