Kosuke Izumi, MD, PhD

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

Contact information
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, Tokyo, Japan, 2003.
Ph.D. (Medicine)
Keio University Graduate School of Medicine, Tokyo, Japan, 2007.
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Selected Publications

Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM: Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. Genet Med 22(8):1338-1347. , August 2020.

Biswas S, Medne L, Devkota B, Bedoukian E, Berrodin D, Izumi K, Deardorff MA, Tarpinian J, Leonard J, Pyle L, Gray C, Montgomery J, Williams T, Fortunato S, Weatherly J, McEldrew D, Kaur M, Raible SE, Wilkens A, Spinner NB, Skraban C, Krantz ID: A Centralized Approach for Practicing Genomic Medicine. Pediatrics 145(3):e20190855, March 2020.

Ritter A, Bedoukian E, Berger JH, Copenheaver D, Gray C, Krantz I, Izumi K, Juusola J, Leonard J, Lin K, Medne L, Santani A, Skraban C, Yang S, Ahrens-Nicklas RC.: Clinical utility of exome sequencing in infantile heart failure. Genet Med. 22(2):423-426., February 2020.

Barone Pritchard A, Ritter A, Kearney HM, Izumi K: Interstitial 4q Deletion Syndrome Including NR3C2 Causing Pseudohypoaldosteronism. Mol Syndromol. 10(6):327-331., January 2020.

Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallieres M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. : Missense Mutations in NKAP cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. Am J Hum Genet. 105(5):987-995., November 2019.

Snijders Blok L, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, van Gassen KLI, Firth HV, Tomkins S, Bodek S; DDD Study, Õunap K, Wojcik MH, Cunniff C, Bergstrom K, Powis Z, Tang S, Shinde DN, Au C, Iglesias AD, Izumi K, Leonard J, Abou Tayoun A, Baker SW, Tartaglia M, Niceta M, Dentici ML, Okamoto N, Miyake N, Matsumoto N, Vitobello A, Faivre L, Philippe C, Gilissen C, Wiel L, Pfundt R, Deriziotis P, Brunner HG, Fisher SE. : De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. Am J Hum Genet 105(2): 403-412, Aug 2019.

Raible SE, Mehta D, Bettale C, Fiordaliso S, Kaur M, Medne L, Rio M, Haan E, White SM, Cusmano Ozog K, Nishi E, Guo Y, Wu H, Shi X, Zhao Q, Zhang X, Lei Q, Lu A, He X, Okamoto N, Miyake N, Piccione J, Allen J, Matsumoto N, Pipan M, Krantz ID, Izumi K: Clinical and Molecular Spectrum of CHOPS syndrome. Am J Med Genet 179(7): 1126-1138, Jul 2019.

Chen J, Li X, Edmondson A, Meyers G, Izumi K, Ackermann AM, Morava-Kozicz E, Ficicioglu C, Bennett MJ, He M: Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation using Flow Injection Electrospray Ionization Quadrupole Time-of-Flight Mass Spectrometry. Clin Chem 65(5): 653-663, May 2019.

Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N; DDD Study, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM, Campeau PM: A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies. Am J Hum Genet 104(4): 596-610, Apr 2019.

Salzano E, Raible SE, Kaur M, Wilkens A, Sperti G, Tilton RK, Bettini LR, Rocca A, Cocchi G, Selicorni A, Conlin LK, McEldrew D, Gupta R, Thakur S, Izumi K, Krantz ID: Prenatal Profile of Pallister Killian Syndrome: retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis. Am J Med Genet 176(12): 2575-2586, Dec 2018.

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Last updated: 08/12/2020
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