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Kosuke Izumi, MD $$

Pediatric Genetics Specialist

Assistant Professor at UT Southwestern Medical Center

Languages Spoken:
English

Locations

UT Southwestern Pediatric Group

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Education and Training

Medical School
Keio University School of Medicine (2003)
Residency
Children's Hospital of Philadelphia (2012), Pediatrics and Medical Genetics
University Hospitals Case Medical Center (2010), Pediatrics and Medical Genetics
Keio University (2005), Pediatrics
Fellowship
Children's Hospital of Philadelphia (2013), Medical Genetics Academic Research Track
Keio University (2007), Medical Genetics
Graduate School
Keio University (2008)
Board Certification
American Board of Medical Genetics and Genomics

Conditions

    • Pallister-Killian syndrome
    • Nuclear speckle disorders
    • Chromatin disorders

    Departments and Programs

    • Research Interests

      • Chromatin biology
      • Chromosome biology
      • Dysmorphology
      • Epigenetics
      • Neurocognitive impairment
      • Transcriptomics

    • Publications

      • Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms. Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, Kim J, Do W, Semeo B, Katz O, Mehta D, Yamamoto N, Schindler E, Al Rawi Z, Wallace N, Wilde JJ, McCallum J, Liu J, Xu D, Jackson M, Rentas S, Tayoun AA, Zhe Z, Abdul-Rahman O, Allen B, Angula MA, Anyane-Yeboa K, Argente J, Arn PH, Armstrong L, Basel-Salmon L, Baynam G, Bird LM, Bruegger D, Ch'ng GS, Chitayat D, Clark R, Cox GF, Dave U, DeBaere E, Field M, Graham JM, Gripp KW, Greenstein R, Gupta N, Heidenreich R, Hoffman J, Hopkin RJ, Jones KL, Jones MC, Kariminejad A, Kogan J, Lace B, Leroy J, Lynch SA, McDonald M, Meagher K, Mendelsohn N, Micule I, Moeschler J, Nampoothiri S, Ohashi K, Powell CM, Ramanathan S, Raskin S, Roeder E, Rio M, Rope AF, Sangha K, Scheuerle AE, Schneider A, Shalev S, Siu V, Smith R, Stevens C, Tkemaladze T, Toimie J, Toriello H, Turner A, Wheeler PG, White SM, Young T, Loomes KM, Pipan M, Harrington AT, Zackai E, Rajagopalan R, Conlin L, Deardorff MA, McEldrew D, Pie J, Ramos F, Musio A, Kline AD, Izumi K, Raible SE, Krantz ID, Am J Med Genet A 2023 Aug 191 8 2113-2131
      • Retrospective identification of patients with SRRM2-related neurodevelopmental disorder in a single tertiary children's hospital. Regan-Fendt KE, Rippert AL, Medne L, Skraban CM, DeJesse J, Gray C, Reichert SL, Staropoli NP, Santos FJR, Krantz ID, Murrell JR, Izumi K, Am J Med Genet A 2023 Aug 191 8 2149-2155
      • Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation. O'Neill AG, Burrell AL, Zech M, Elpeleg O, Harel T, Edvardson S, Mor-Shaked H, Rippert AL, Nomakuchi T, Izumi K, Kollman JM, J Biol Chem 2023 Jul 299 8 105012
      • Unmasking the challenges of Kabuki syndrome in adulthood: A case series. Priestley JRC, Rippert AL, Condit C, Izumi K, Kallish S, Drivas TG, Am J Med Genet C Semin Med Genet 2023 Jun 193 2 128-138

    • Awards and Honors

      • Distinguished Research Trainee Award at the Children's Hospital of Philadelphia (2013-2013)
      • American Academy of Pediatrics, Resident Research Grant recipient (2009-2009)
      • 21st Century Center of Excellence (COE) Program Research Associate Award (2005-2006)
      • Fellowship award from Bo-shi Aiikukai Foundation (2005-2005)
      • Medical Student Outstanding Research Award at Keio University School of Medicine (2001-2001)

    Where I Provide Care: