Kosuke Izumi, MD, PhD

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Kosuke Izumi, MD, PhD, is an attending physician in the Roberts Individualized Medical Genetics Center and the Division of Human Genetics at Children’s Hospital of Philadelphia.

Areas of Expertise: Clinical genetics, Dysmorphology, Genetic syndromes associated with obesity, Mosaic chromosomal abnormality, Pallister-Killian Syndrome, CHOPS syndrome, Smith-Magenis syndrome

Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467)

Education and Training

Medical School

MD - Keio University School of Medicine, Tokyo, Japan


Pediatrics and Genetics Combined Residency - The Children's Hospital of Philadelphia, Philadelphia, PA

Pediatrics and Genetics Combined Residency - University Hospitals Case Medical Center /Rainbow Babies and Children’s Hospital, Case Western Reserve University, Cleveland, OH

Pediatrics - Keio University Hospital, Tokyo, Japan


Medical Genetics Fellowship (Academic/Research Track) - The Children's Hospital of Philadelphia, Philadelphia, PA

Medical Genetics - Keio University Hospital, Tokyo, Japan

Board Certification

Medical Genetics

Graduate Degree

PhD in Medicine - Keio University Graduate School of Medicine, Tokyo, Japan

Titles and Academic Titles

Attending Physician

Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania

Departments and Services




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, 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.

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.


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.

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.

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.


Tilton R., Wilkens A., Krantz ID., Izumi K: Cardiac manifestations of Pallister-Killian syndrome.  Am J Med Genet A.  164A: 1130-5, 2014.

Izumi K., Kaur M, Zhang Z., Krantz ID.: 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian Syndrome  Chromosome Res. 22(4): 453-461, 2014.

Kaur M*., Izumi K*., Wilkens AB., Chatfield KC., Spinner NB., Conlin LK., Zhang Z., Krantz ID.: Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome. PLoS One 9(10): e108853, Oct 16 2014 Notes: *equal contribution.


Kalish JM., Conlin LK., Bhatti TR., Dubbs HA., Harris MC., Izumi K., Mostoufi-Moab S., Mulchandani S., Saitta S., States LJ., Swarr DT., Wilkens AB., Zackai EH., Zelley K., Bartolomei MS., Nichols KE., Palladino AA., Spinner NB., Deardorff MA: Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.  Am J Med Genet A.  161A: 1929-39, 2013.


Wilkens A, Liu H, Park K, Close LB, Jackson M, Kostanecka A, Pipan M, Izumi K, Pallister P, Krantz ID. : Novel clinical manifestations in Pallister-Killian syndrome: Comprehensive evaluation of 59 affected individuals and review of previously reported cases.   Am J Med Genet A.  158A: 3002-3017, 2012.

Kostanecka A., Close LB., Izumi K., Krantz ID., Pipan M. : Developmental and behavioral characteristics of individuals with Palisster-Killian Syndrome.  Am J Med Genet A.  158A: 3018-3025, 2012.

Izumi K., Conlin LK., Berrodin D., Fincher C., Wilkens A., Haldeman-Englert C., Saitta SC., Zackai EH., Spinner NB., Krantz ID. : Duplication 12p and Pallister-Killian Syndrome: A case report and review of the literature towards defining a Pallister-Killian syndrome minimal critical region. Am J Med Genet A. 158A: 3033-3045, 2012.

Izumi K., Brooks SS., Feret FA., Zackai EH.: 1.9Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype.  Am J Med Genet A. 158A: 1535-154, 2012.

Conlin LK, Kaur M, Izumi K, Close L, Wilkens A, Clark D, Deardorff MA, Zackai EH, Pallister P, Hakonarson H, Spinner NB, Krantz ID. : Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of Tetrasomy 12p in blood from individuals with Pallister-Killian syndrome. Am J Med Genet A.  158A: 3046-3053, 2012.


Hattori M., Torii C., Yagihashi T., Izumi K., Suda N., Ohyama K., Takahashi T., Moriyama K., Kosaki K. : Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid chromatography assay. Genet Test Mol Biomarkers 13(5): 623-30, Oct 2009.

Naito Y., Kimura T., Aramaki M., Izumi K., Okada Y., Suzuki H., Takahashi T., Kosaki K. : Caudal regression and tracheoesophageal malformation induced by adriamycin: A novel chick model of VATER association.  Pediatr Res.  65(6):  607-12, Jun 2009.


Udaka T., Imoto I., Aizu Y., Torii C., Izumi K., Kosaki R., Takahashi T., Hayashi S., Inazawa J., Kosaki K. : Multiplex PCR/liquid chromatography assay for screening of subtelomeric rearrangements. Genet Test.  11: 241-8, 2007.

Samejima H., Torii C., Kosaki R., Kurosawa K., Yoshihashi H., Muroya K., Okamoto N., Watanabe Y., Kosho T., Kubota M., Matsuda O., Goto M., Izumi K., Takahashi T., Kosaki K. : Screening for Alagille Syndrome mutations in the JAG1 and NOTCH2 genes using denaturing high-performance liquid chromatography.  Genet Test. 11: 216-27, 2007.

Izumi K., Aramaki M., Kimura T., Naito Y., Udaka T., Uchikawa M., Kondoh H., Suzuki H., Cho G., Okada Y., Takahashi T., Golden J.A., Kosaki K. : Identification of a prosencephalic-specific enhancer of SALL1: comparative genomic approach using the chick embryo. Pediatr Res 61: 660-665, 2007.


Udaka T., Kurosawa K., Izumi K., Yoshida S., Tsukahara M., Okamoto N., Torii C., Kosaki R., Masuno M., Hosokai N., Takahashi T., and Kosaki K.: Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography. Genet Test. 10: 265-271, 2006.

Izumi K., Jones K.L., Kosaki K., and Benirschke K. : Umbilical cord length in urinary tract abnormalities associated with oligohydramnios: evidence regarding developmental pathogenesis.  Fetal Pediatr Pathol.  25: 233-240, 2006.




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

Posters and Presentations

Invited Lectures


Izumi K. "Significance of Rare Disease Research. 38th Annual Meeting of the Molecular Biology Society of Japan". Kobe, Japan, Dec, 2015.

Izumi K. "Utilization of ddPCR in the diagnosis of mosaic aneuploidy syndrome. Digital PCR Front-Line Technical Symposium". Tokyo, Japan, Sep, 2015.

Izumi K. "Dissecting molecular mechanism of mosaic aneuploidy syndromes. 22nd Clinical Cytogenetics Seminar". Tokyo, Japan, Aug, 2015.

Awards and Honors

2013, Distinguished Research Trainee Award at the Children’s Hospital of Philadelphia

2001, Medical Student Outstanding Research Award at Keio University School of Medicine

Editorial and Academic Positions

Manuscripts ad hoc reviewer

Journal of Pediatric Genetics

American Journal of Medical Genetics Part A

European Journal of Medical Genetics

Application of Clinical Genetics

Balkan Journal of Medical Genetics

Leadership and Memberships

Memberships in Professional Organizations

2007-present, Member, American Academy of Pediatrics

2005-present, Trainee Member, American Society of Human Genetics

2004-present, Member, Japanese Society of Human Genetics

2003-present, Member, Japan Pediatric Society