Kosuke Izumi

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. pmc ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
    Kosuke Izumi
    Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113 0032, Japan Division of Medical Genetics, Nagano Children s Hospital, Azumino 399 8205, Japan Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA Electronic address
    Am J Hum Genet 99:451-9. 2016
  2. doi Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features
    Kosuke Izumi
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
    Am J Med Genet A 155:1384-9. 2011
  3. doi Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome
    Laura K Conlin
    Department of Pathology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19146, USA
    Am J Med Genet A 158:3046-53. 2012
  4. pmc Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
    Jennifer M Kalish
    the Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Med Genet A 161:1929-39. 2013
  5. doi Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Med Genet A 161:166-71. 2013
  6. pmc Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome
    Maninder Kaur
    The Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 9:e108853. 2014
  7. doi Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases
    Alisha Wilkens
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:3002-17. 2012
  8. doi 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome
    Kosuke Izumi
    The Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Chromosome Res 22:453-61. 2014
  9. doi Congenital heart defects in oculodentodigital dysplasia: Report of two cases
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Am J Med Genet A 161:3150-4. 2013
  10. doi NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan Electronic address
    Eur J Med Genet 57:558-61. 2014

Collaborators

Detail Information

Publications14

  1. pmc ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects
    Kosuke Izumi
    Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113 0032, Japan Division of Medical Genetics, Nagano Children s Hospital, Azumino 399 8205, Japan Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA Electronic address
    Am J Hum Genet 99:451-9. 2016
    ..Our findings demonstrate the importance of COPI-mediated transport in human development, including skeletogenesis and brain growth. ..
  2. doi Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features
    Kosuke Izumi
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA
    Am J Med Genet A 155:1384-9. 2011
    ..The current report provides evidence to support a specific phenotype associated with a 9q22.3 microduplication and confirm localization of a subset of the trisomy 9q phenotype to this chromosomal region...
  3. doi Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndrome
    Laura K Conlin
    Department of Pathology, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19146, USA
    Am J Med Genet A 158:3046-53. 2012
    ..These highlight the power of SNP arrays in detecting and characterizing the isochromosome 12p in Pallister-Killian syndrome as well as underscoring the important utility of traditional cytogenetic techniques...
  4. pmc Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
    Jennifer M Kalish
    the Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Am J Med Genet A 161:1929-39. 2013
    ..Because of a later age of onset of additional tumors, continued tumor surveillance into adolescence may need to be considered in these rare patients...
  5. doi Mosaic maternal uniparental disomy of chromosome 15 in Prader-Willi syndrome: utility of genome-wide SNP array
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Am J Med Genet A 161:166-71. 2013
    ....
  6. pmc Genome-wide expression analysis in fibroblast cell lines from probands with Pallister Killian syndrome
    Maninder Kaur
    The Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 9:e108853. 2014
    ....
  7. doi Novel clinical manifestations in Pallister-Killian syndrome: comprehensive evaluation of 59 affected individuals and review of previously reported cases
    Alisha Wilkens
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:3002-17. 2012
    ..This report expands the clinical manifestations of Pallister-Killian syndrome and highlights the variable expressivity of this diagnosis with important implications for diagnosis and counseling...
  8. doi 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome
    Kosuke Izumi
    The Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Chromosome Res 22:453-61. 2014
    ....
  9. doi Congenital heart defects in oculodentodigital dysplasia: Report of two cases
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Am J Med Genet A 161:3150-4. 2013
    ..Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations...
  10. doi NKX2.5 mutation identification on exome sequencing in a patient with heterotaxy
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan Electronic address
    Eur J Med Genet 57:558-61. 2014
    ....
  11. pmc Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin
    Kosuke Izumi
    1 Division of Human Genetics, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA 2 Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan
    Nat Genet 47:338-44. 2015
    ..These data support a common molecular pathogenesis for CHOPS syndrome and CdLS caused by disturbance of transcriptional elongation due to alterations in genome-wide binding of AFF4 and cohesin. ..
  12. doi Cardiac manifestations of Pallister-Killian syndrome
    Richard K Tilton
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania Temple University School of Medicine, Philadelphia, Pennsylvania
    Am J Med Genet A 164:1130-5. 2014
    ..We suggest cardiac evaluation for all individuals with PKS at the time of diagnosis as well as subsequent longitudinal follow-up to monitor for the development of cardiomyopathy and aortic dilatation...
  13. doi Duplication 12p and Pallister-Killian syndrome: a case report and review of the literature toward defining a Pallister-Killian syndrome minimal critical region
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Am J Med Genet A 158:3033-45. 2012
    ..We have identified a proposita with PKS who has two small de novo interstitial duplications of 12p which, along with a review of previously reported cases, has allowed us to define a minimum critical region for PKS...
  14. doi Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features
    Kosuke Izumi
    Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania
    Am J Med Genet A 161:3137-43. 2013
    ..Hence, we suggest that detailed endocrine evaluation and longitudinal endocrine follow up be performed in individuals with proximal interstitial 6q deletion involving SIM1...