Kosuke Izumi, MD, PhD

Papers

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, 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.

2015

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.

2014

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.

2013

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.

2012

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.

2009

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.

2007

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.

2006

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.

Books

Chapters

2015

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

2015

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.