Jannine Cody

Summary

Affiliation: University of Texas Health Science Center
Country: USA

Publications

  1. ncbi 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
  2. ncbi 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
  3. ncbi 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
  4. ncbi 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi 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
  8. ncbi 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
  9. ncbi 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
  10. ncbi 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

Research Grants

  1. The World Congress on Chromosome Abnormalities
    Jannine Cody; Fiscal Year: 2004
  2. Identification of Dosage Sensitive Genes on 18q
    Jannine Cody; Fiscal Year: 2007

Collaborators

Detail Information

Publications20

  1. ncbi 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:..
  2. ncbi 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...
  3. ncbi 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...
  4. ncbi 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi 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...
  8. ncbi 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...
  9. ncbi 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
    ....
  10. ncbi 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-...
  11. ncbi 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...
  12. ncbi 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...
  13. ncbi 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
  14. ncbi 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
    ..CONCLUSION: The distributions of both the size and parental origin of the 18p deletions support the presence of a breakpoint cluster in the 18p- syndrome...
  15. ncbi 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...
  16. ncbi 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...
  17. ncbi 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
    ..001). CONCLUSION: Myelination modeling in 18q- children indicated delayed onset, a lower rate of myelination, and equilibrium myelin levels less than 50% those of age-matched, typically developing children...
  18. ncbi 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...
  19. ncbi 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...
  20. ncbi 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. 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. ..
  2. 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. ..