Jannine Cody

Summary

Affiliation: University of Texas Health Science Center
Country: USA

Publications

  1. pmc Establishing a reference group for distal 18q-: clinical description and molecular basis
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA
    Hum Genet 133:199-209. 2014
  2. pmc A recurrent translocation is mediated by homologous recombination between HERV-H elements
    Karen E Hermetz
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    Mol Cytogenet 5:6. 2012
  3. doi request reprint Linking chromosome abnormality and copy number variation
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, USA
    Am J Med Genet A 155:469-75. 2011
  4. ncbi request reprint Identification of two novel chromosome regions associated with isolated growth hormone deficiency
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, USA
    J Pediatr Endocrinol Metab 23:1159-64. 2010
  5. doi request reprint A gene dosage map of Chromosome 18: a map with clinical utility
    Jannine D Cody
    Department of Pediatrics, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA
    Genet Med 11:778-82. 2009
  6. ncbi request reprint Narrowing critical regions and determining penetrance for selected 18q- phenotypes
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229, USA
    Am J Med Genet A 149:1421-30. 2009
  7. ncbi request reprint Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas 78229, USA
    Am J Med Genet A 143:1181-90. 2007
  8. ncbi request reprint Growth hormone benefits children with 18q deletions
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, 78229, USA
    Am J Med Genet A 137:9-15. 2005
  9. doi request reprint Psychiatric syndromes in individuals with chromosome 18 abnormalities
    Juan Zavala
    Department of Psychiatry, South Texas Psychiatric Genetics Research Center, University of Texas Health Science Center at San Antonio, 454 Soledad, Suite 200, San Antonio, TX 78205, USA
    Am J Med Genet B Neuropsychiatr Genet 153:837-45. 2010
  10. ncbi request reprint Precision in phenotyping and genotyping
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, USA
    Am J Med Genet A 131:313. 2004

Research Grants

Collaborators

Detail Information

Publications21

  1. pmc Establishing a reference group for distal 18q-: clinical description and molecular basis
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX, 78229, USA
    Hum Genet 133:199-209. 2014
    ..A sixth gene, ATP9B, may be conditionally dosage sensitive. Not all distal 18q- phenotypes can be attributed to these six genes; however, this is an important advance in the molecular characterization of 18q deletions. ..
  2. pmc A recurrent translocation is mediated by homologous recombination between HERV-H elements
    Karen E Hermetz
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA
    Mol Cytogenet 5:6. 2012
    ..abstract:..
  3. doi request reprint Linking chromosome abnormality and copy number variation
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, USA
    Am J Med Genet A 155:469-75. 2011
    ..Over time, this effort will lead to the establishment of principles that permit the prediction of the consequence of any one genomic copy number change...
  4. ncbi request reprint Identification of two novel chromosome regions associated with isolated growth hormone deficiency
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, USA
    J Pediatr Endocrinol Metab 23:1159-64. 2010
    ..These genes are ARFGEF2, CSE1L, DDX27, ZNFX1, C20orf199, SNORD12, KCNB1, and PTGIS. Thus, further investigations into these potential candidate genes are necessary...
  5. doi request reprint A gene dosage map of Chromosome 18: a map with clinical utility
    Jannine D Cody
    Department of Pediatrics, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA
    Genet Med 11:778-82. 2009
    ..Our goal is to enable a clinical geneticist to align the molecular karyotype information from an individual patient with the annotated genomic content, so as to provide a clinical prognosis...
  6. ncbi request reprint Narrowing critical regions and determining penetrance for selected 18q- phenotypes
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229, USA
    Am J Med Genet A 149:1421-30. 2009
    ..Identification of these critical regions suggest possible candidate genes, while penetrance calculations begin to create a predictive phenotypic description based on genotype...
  7. ncbi request reprint Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas 78229, USA
    Am J Med Genet A 143:1181-90. 2007
    ..Additionally, this may represent a previously underappreciated syndrome since these children do not have the typical clinical abnormalities that would lead to a chromosome analysis...
  8. ncbi request reprint Growth hormone benefits children with 18q deletions
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, 78229, USA
    Am J Med Genet A 137:9-15. 2005
    ..Cognitive changes of this magnitude are clinically significant and are anticipated to have an effect on the long-term outcomes for the treated individuals...
  9. doi request reprint Psychiatric syndromes in individuals with chromosome 18 abnormalities
    Juan Zavala
    Department of Psychiatry, South Texas Psychiatric Genetics Research Center, University of Texas Health Science Center at San Antonio, 454 Soledad, Suite 200, San Antonio, TX 78205, USA
    Am J Med Genet B Neuropsychiatr Genet 153:837-45. 2010
    ..Psychotic, manic and depressive disorders were seen mostly in 18q- subjects and this may be helpful in narrowing regions for candidate genes for these psychiatric conditions...
  10. ncbi request reprint Precision in phenotyping and genotyping
    Jannine D Cody
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas, USA
    Am J Med Genet A 131:313. 2004
  11. doi request reprint Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals
    Courtney Sebold
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA
    Am J Med Genet A 152:2164-72. 2010
    ..Additionally, a profile of dysmorphic features is described. Lastly, a series of clinical evaluations to be considered for individuals with tetrasomy 18p is suggested...
  12. ncbi request reprint Three novel mutations in SQSTM1 identified in familial Paget's disease of bone
    Teresa L Johnson-Pais
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas 78229, USA
    J Bone Miner Res 18:1748-53. 2003
    ..Disruptions of the C-terminal domain of SQSTM1 seem to be a leading cause of familial PDB...
  13. ncbi request reprint Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q
    Shelly R Gunn
    Department of Cellular and Structural Biology, The University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA
    Am J Med Genet A 120:127-35. 2003
    ....
  14. ncbi request reprint Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization
    Peter Kochunov
    Research Imaging Center, University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    Hum Brain Mapp 24:325-31. 2005
    ..Regionally, the posterior portions of corpus callosum (posterior midbody, isthmus, and splenium), which contain heavily myelinated fibers, were found to be 25% smaller in the population with 18q-...
  15. doi request reprint Ophthalmic manifestations of tetrasomy 18p
    W Abraham White
    Department of Ophthalmology, University of Texas Health Science Center, San Antonio, Texas 78229 3900, USA
    J AAPOS 15:268-71. 2011
    ..To characterize ophthalmic findings in patients with tetrasomy 18p, a rare chromosomal anomaly that has been previously associated with strabismus...
  16. pmc High resolution genomic analysis of 18q- using oligo-microarray comparative genomic hybridization (aCGH)
    Patricia L Heard
    Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229, USA
    Am J Med Genet A 149:1431-7. 2009
    ..Taken together, these findings confirm a higher level of variability and genomic complexity surrounding deletions of 18q than has previously been appreciated...
  17. ncbi request reprint Molecular characterization of 18p deletions: evidence for a breakpoint cluster
    Rebecca L Schaub
    Department of Pediatrics, University of Texas Health Science Center, San Antonio, Texas 78229 7809, USA
    Genet Med 4:15-9. 2002
    ..To determine the size and parental origin of the deletion in individuals with 18p- syndrome...
  18. ncbi request reprint Myelination in children with partial deletions of chromosome 18q
    Jack L Lancaster
    Research Imaging Center, University of Texas Health Science Center at San Antonio, TX 78284, USA
    AJNR Am J Neuroradiol 26:447-54. 2005
    ..We compared myelin levels in white matter (WM) in typically developing children with those of children with partial deletions of chromosome 18q (18q-)...
  19. doi request reprint Genetic determinants of autism in individuals with deletions of 18q
    Louise O'Donnell
    Department of Pediatrics, UT Health Science Center at San Antonio, 7703 Floyd Curl Drive, San Antonio, TX 78229, USA
    Hum Genet 128:155-64. 2010
    ..Taken together, these findings identify several new potential candidate genes or regions for autistic behaviors...
  20. ncbi request reprint The spectrum of thyroid abnormalities in individuals with 18q deletions
    Rebecca L Schaub
    Department of Pediatrics, University of Texas Health Science Center, 7703 Floyd Curl Drive, San Antonio, Texas 78229, USA
    J Clin Endocrinol Metab 90:2259-63. 2005
    ..The mechanism of the hypothyroidism is not yet known, and the genetic basis has not been delineated...
  21. ncbi request reprint Cognitive ability predicts degree of genetic abnormality in participants with 18q deletions
    Margaret Semrud-Clikeman
    Department of Educational Psychology, University of Texas at Austin, University Station, Austin, Texas 78712, USA
    J Int Neuropsychol Soc 11:584-90. 2005
    ..These findings suggest that degree of cognitive impairment is associated with genetic abnormality when a large sample of individuals with "pure" deletions of genetic material from chromosome 18 is examined...

Research Grants5

  1. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2004
    ..Furthermore, it will begin to piece together the genotypic components that combine to generate the full phenotype of a child with an 18q deletion. ..
  2. The World Congress on Chromosome Abnormalities
    Jannine Cody; Fiscal Year: 2004
    ..This application seeks funding for the Scientific Sessions of the World Congress on Chromosome Abnormalities, to be held in June of 2004 in San Antonio, Texas. ..
  3. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2005
    ..Furthermore, it will begin to piece together the genotypic components that combine to generate the full phenotype of a child with an 18q deletion. ..
  4. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2006
    ..Furthermore, it will begin to piece together the genotypic components that combine to generate the full phenotype of a child with an 18q deletion. ..
  5. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2007
    ..Furthermore, it will begin to piece together the genotypic components that combine to generate the full phenotype of a child with an 18q deletion. ..