Kosuke Izumi

faculty photo
Assistant Professor of Pediatrics at the Children's Hospital of Philadelphia
Department: Pediatrics

Contact information
The Children's Hospital of Philadelphia
Division of Human Genetics, Room 1010
3615 Civic Center Blvd.
Philadelphia, PA 19104
Office: 215-590-5078
Education:
M.D.
Keio University School of Medicine, 2003.
Ph.D. (Medicine)
Keio University Graduate School of Medicine, 2007.
Permanent link
 

Description of Itmat Expertise

Genetics
Gene transcription

Selected Publications

Izumi K. : Disorders of transcriptional regulation: an emerging category of multiple malformation syndromes. Mol Syndromol. 7(5): 262-273. 2016.

Fujiki K., Shirahige K., Kaur M., Deardorff MA., Conlin LK., Krantz ID., Izumi K.: Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCR. Mol Genet Genomic Med. 4(3): 257-261, 2016.

Nishi E, Masuda K, Arakawa M, Kawame H, Kosho T, Kitahara M, Kubota N, Hidaka E, Katoh Y, Shirahige K, Izumi K. : Exome sequencing–based identification of mutations in non-syndromic genes among individuals with apparently syndromic features. Am J Med Genet. 170(11): 2889-2894, 2016.

Izumi K., Hayashi D., Grochowski CM., Kubota N., Nishi E., Arakawa M., Hiroma T., Hatata T., Ogiso Y., Nakamura T., Falsey AM. Hidaka E., Spinner NB. : Discordant clinical phenotype in monozygotic twins with Alagille syndrome: Possible Influence of non-genetic factors. Am J Med Genet A. 170(2): 471-475, 2016.

Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K: ARCN1 mutations cause a recognizable craniofacial syndrome Due to COPI-mediated transport defects. Am J Hum Genet. 99(2): 451-9. 2016.

Izumi K., Nakato R., Zhang Z., Edmondson AC., Noon S., Dulik MC., Rajagopalan R., Venditti CP., Gripp K., Samanich J., Zackai EH., Deardorff MA., Clark D., Allen JL., Dorsett D., Misulovin Z., Komata M., Bando M., Kaur M., Katou Y., Shirahige K., Krantz ID. (2015) : Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesion. Nat Genet. 47(4): 338-344, 2015.

Ganetzky R., Izumi K, Edmondson A., Clarke C., Zackai E., Deardorff M., Ganesh J.: Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A. 167(10): 2411-7, 2015.

Chen S., Okada M., Nakato R., Izumi K., Bando M., Shirahige K. : The deubiquitinating enzyme USP7 regulates androgen receptor activity by modulating its binding to chromatin. J Biol Chem. 290(35): 21713-23, 2015.

Izumi K., Kellogg E., Fujiki K., Kaur M., Tilton RK., Noon S, Wilkens A., Shirahige K., Krantz ID.: Elevation of insulin-like growth factor binding protein-2 Level in Pallister-Killian syndrome: Implications for the postnatal growth retardation phenotype. Am J Med Genet A. 167(6): 1268-74, 2015.

Krantz ID and Izumi K.: Human Malformations and Related Anomalies. Chapter 29 Liver, gallbladder, and pancreas. Oxford University Press, NY, NY 2015.

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Last updated: 12/14/2017
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