Kosuke Izumi, MD, PhD

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.
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Selected Publications

Romasko Edward J, DeChene Elizabeth T, Balciuniene Jorune, Akgumus Gozde T, Helbig Ingo, Tarpinian Jennifer M, Keena Beth A, Vogiatzi Maria G, Zackai Elaine H, Izumi Kosuke, Massey Shavonne L, Tayoun Ahmad N Abou: PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanism. Epilepsy research 145: 89-92, Jun 2018.

Pinz Hailey, Pyle Louise C, Li Dong, Izumi Kosuke, Skraban Cara, Tarpinian Jennifer, Braddock Stephen R, Telegrafi Aida, Monaghan Kristin G, Zackai Elaine, Bhoj Elizabeth J: De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies. American journal of medical genetics. Part A 176(4): 969-972, Apr 2018.

Iwata-Otsubo A, Ritter AL, Weckselbatt B, Ryan NR, Burgess D, Conlin LK, Izumi K: DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. Am J Med Genet A. 176(1): 241-245, January 2018.

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.

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: 07/24/2018
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