Publications

One of the most important functions of the Chromosome 18 Clinical Research Center is to share our research findings with the scientific and medical communities. This is accomplished through publications in scientific journals and presentations at scientific meetings.  Here you will find a list of the research center’s publications.

Scientific Manuscripts

High resolution genomic analysis of 18q- using oligomicroarray comparative genomic hybridization (aCGH) (2009). Heard PL, Carter EM, Crandall AC, Sebold C, Hale DE, Cody JD. Am J Med Genet 149A: 1431-1437.

 

Narrowing critical regions and determining penetrance for selected 18q- phenotypes (2009). Cody JD, Heard PL, Crandall AC, Carter EM, Li J, Hardies LJ, Lancaster J, Perry B, Stratton RF, Sebold C, Schaub RL, Soileau B, Hill A, Hasi M, Fox PT, Hale DE. Am J Med Genet 149A: 1421-1430.

 

Molecular and clinical characterization of a recurrent cryptic unbalanced t(4q;18q) resulting in an 18q deletion and 4q duplication (2008). Horbinski C, Carter EM, Heard PL, Sathanoori M, Hu J, Vockley J, Gunn S, Hale DE, Surti U, Cody JD. Am J Med Genet 146A(22): 2898-904.

 

Recurrent Interstitial Deletions of Proximal 18q: A New Syndrome Involving Expressive Speech Delay (2007). Cody JD, Sebold C, Malik A, Heard P, Carter E, Crandall A, Soileau B, Semrud-Clikeman M, Cody C, Hardies LJ, Li J, Lancaster J, Fox PT, Stratton RF, Perry B, Hale DE. Am J Med Genet 143A(11):1181-90.

 

Creating partnerships and improving health care: the role of genetic advocacy groups (2006). Cody JD. 8(12): 797-799.

 

Mapping structural differences of the corpus callosum in individuals with 18q deletions using targetless regional spatial normalization (2005). Kochunov P, Lancaster J, Hardies J, Thompson PM, Woods RP, Cody JD, Hale DE, Laird A, Fox PT. Hum Brain Mapp 24(4):325-31.

 

Myelination in Children with partial deletions of chromosome 18q (2005). Lancaster JL, Cody JD, Andrews T, Hardies LJ, Hale DE, Fox PT. AJNR Am J Neuroradiol 26(3):447-54.

 

Cognitive ability predicts degree of genetic abnormality in participants with 18q deletions (2005). Semrud-Clikeman M, Thompson NM, Schaub BL, Leach R, Hester A, Hale DE, Cody JD. J Int Neuropsych Soc 11:584-590.

 

Growth Hormone Benefits Children with 18q Deletions (2005). Cody JD, Semrud-Clikeman M, Hardies LJ, Lancaster J, Ghidoni PD, Schaub RL, Thompson NM, Wells L, Cornell JE, Love TM, Fox PT, Leach RJ, Kaye CI, K, Hale DE.  Am J Med Genet137A:9-15.

 

The Spectrum of Thyroid Abnormalities in Individuals with 18q Deletions (2005). Schaub RL, Hale DE, Rose SR, Leach RJ, Cody JD. J Clin Endocrinol Metab 90(4): 2259-63.

 

Precision in phenotyping and genotyping (2004). Cody JD, Hale DE. Am J Med Genet 131A(3):313.

 

Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q (2003). Gunn SR, Mohammed M, Reveles XT, Viskochil DH, Palumbos JC, Johnson-Pais TL, Hale DE, Lancaster JL, Hardies LJ, Boespflug-Tanguy O, Cody JD, Leach RJ. Am J Med Genet 120A(1):127-135.

 

Three-pool model of white matter (2003). Lancaster JL, Andrews T, Hardies LJ, Dodd S, Fox PT. J Magn Reson Imaging 17(1):1-10.

 

Molecular Characterization of 18p deletions: Identification of a breakpoint cluster (2002). Schaub RL, Reveles XT, Baillargeon J, Leach, Cody JD Genet Med 4:15-19.

 

Chromosome 18p deletion syndrome and dental caries: history in nine cases and five unaffected siblings (2000). Hermesch CT, Cody JT, Cody JD. Special Care in Dentistry  20:53-44.

 

The spectrum of growth abnormalities in children with 18q deletions (2000). Hale DE, Cody JD, Baillargeon J, Schaub RL, Danney MM, Leach RJ. J Clin Endocrinol Metab  85:4450-4454.

 

Chromosome 18q paracentric inversion in a family with mental retardation and hearing loss (1999). Keppler-Noreuil KM, Caroll AJ, Finley SC, Descartes M, Cody JD, DuPont BR, Leach RJ. Am J Med Genet 76:372-378.

 

Congenital anomalies and anthropometry of 42 individuals with deletions of 18q (1999). Cody JD, Ghidoni PD, DuPont B, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub, RL, Leach RJ, Kaye CI. Am J Med Genet 85:455-462.

 

Expression patterns in cell lines from individuals with deletions of 18q (1999). Wang Z, Cody JD, Leach RJ, O'Connell P. Gene Human Genetics 104:467-475.

 

Haploinsufficiency of the MC4R gene in individuals with deletions of 18q (1999). Cody, JD, Reveles XT, Hale DE, Leach RJ. Hum Genet 1999; 105:424-427.

 

Haplosufficiency of the melancortin-4 receptor gene in individuals with deletions of 18q (1999).  Cody JD, Reveles XT, Hale DE, Lehman D, Coon H, Leach RJ.  Hum Genet 105(5): 424-427.

 

Identification of cryptic rearrangements in patients with 18q- deletion syndrome (1998). Brkanac Z, Cody JD, Leach RJ, DuPont BR. Am J Hum Genet 62:1500-1506.

 

Preferential loss of the paternal alleles in the 18q- syndrome (1997). Cody JD, Brkanac Z, Pierce JF, Plaetke R, Ghidoni PD, Kaye CI, Leach RJ. Am J Med Genet 69:280-286.

 

Growth hormone deficiency associated with 18q deletion syndrome (1997). Ghidoni PD, Hale DE, Cody JD, Thompson NM, McClure EB, Gay CT, Danney MM, Leach RJ, Kaye CI. Am J Med Genet 69:7-12.

 

Growth hormone insufficiency associated with a deletion of 2 Mb at 18q23 (1997). Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ. Am J Med Genet 71:420-425.

 

Magnetic resonance imaging demonstrates incomplete myelination in the 18q- syndrome: Evidence for myelin basic protein haploinsufficiency (1997). Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. Neuropysch Genet 74:422-431.

 

Genetic linkage of Paget disease of the bone to chromosome 18q (1997). Cody JD, Singer FR, Roodman GD, Otterund B, Lewis T, Leppert M, Leach R. Am J Hum Genet 61(5): 1117-1122.

 

Abstracts

Expanding the clinical phenotype of tetrasomy 18p (2008). Sebold CD, Roeder E, Soileau B, Malik A, Neigut D, Hernandez K, Thomas M, Perry B, Fox P, Semrud-Clikeman M, Butcher B, Smith S, O’Donnell L, Richards K, Reinker K, Tragus R, Hale DE, Cody JD. Platform presentation at the European Society of Human Genetics Annual Meeting. Barcelona, Spain. Eur J Hum Genet 16(Supp 2): C01.2.

Cognitive and behavioral patterns associated with 18p- (2008). O’Donnell L, Soileau B, Sebold C, Cody JD. Poster presentation at the European Society of Human Genetics Annual Meeting. Barcelona, Spain. Eur J Hum Genet 16 (Supp 2): P02.070.

Endocrine abnormalities in 18p- (2008). Hale DE, Sebold CD, Cody JD. Poster presentation at the European Society of Human Genetics Annual Meeting. Barcelona, Spain. Eur J Hum Genet 16 (Supp 2): P02.071.

Increasing research through collaboration (2008). Cody JD, Sebold CD, Hale DE. Poster presentation at the European Society of Human Genetics Annual Meeting. Barcelona, Spain. Eur J Hum Genet 16 (Supp 3): P09.03.

Types of Parenting Stress in Families of Children with Genetic Disorders (2008). Davis KS, Semrud-Clikeman M, Cody J, O’Donnell L, Soileau B. Poster presentation at the National Conference in Child Health Psychology.

A gene dosage map of the human genome: a map with clinical utility (2007). Cody JD, Heard PL, Crandall AC, Carder EM, Hale DE. Poster Presentation at the American Society of Human Genetics Annual Meeting. San Diego, California.

 

Recurrent Interstitial Deletions of Proximal 18q: Description of a New Syndrome Involving Expressive Speech Delay (2006). Cody JD, Malik A, Sebold C, Heard P, Duran A, Carter E, Hale DE. American Society of Human Genetics. Poster presentation at the American Society of Human Genetics Annual Meeting. New Orleans, Louisiana.

Clinical features of individuals with tetrasomy 18p (2004). Roeder ER, Zimmerman MA, Schaub RE, Duran AL, Heard PA, Hale DE, Cody JD. Poster presentation at World Congress of Chromosome Abnormalities. San Antonio, Texas.

The endocrine profile of individuals with chromosome 18q deletions (2003). Cody JD, Schaub RL, Hale DE. Poster presentation at the Pediatric Research Annual Conference.

The 18q- phenotype based on a comprehensive clinical assessment of 90 individuals (2002).  Cody JD, Schaub RL, Semrud-Clikeman M, Thompson NM, Hardies LJ, Lancaster JL, Fox PT, Beck WG, Hoffman DS, Danney M, Ghidoni PD, Stratton RL, Shapira SK, Gay C, Baillargeon JG, Leach RJ, Kaye CI, Hale DE.  Poster presentation at the American Society of Human Genetics Annual Meeting.  Baltimore, Maryland.

Growth hormone increases growth and performance IQ in children with chromosome 18q deletions (2002). Hale DE, Schaub RL, Semrud-Clikeman M, Baillargeon JG, Leach RJ, Kaye CI, Cody JD. 67. Poster presentation at the Pediatric Research Annual Conference.

Catalyst for Advancing Research: Collaborations among Industry, Academia, and Consumer Organizations(2001).  Terry SF, Cody JD, Lewis J, Terry PF, Nelson L, Davidson M. Poster presentation at the American Society of Human Genetics Annual Meeting. San Diego, California.

Growth hormone improves growth and performance IQ in children with 18q deletions (2000).  Hale DE, Cody JD, Semrud-Clikeman M, Ghidoni PD, Schaub RL, Thompson NM, Kaye CI, Leach RJ. Pediatr Res

Identification of an 18q– syndrome patient who is mosaic for two different deletions of 18q (2000). Reveles XT, Cody JD, Thompson NM, Leach RJ. American Society of Human Genetics Annual Meeting. Philadelphia, Pennsylvania.

 

Partners in Research (2000). Terry SF, Whittemore VH, Terry PF, Cody JD, Davidson ME. American Society of Human Genetics. Philadelphia, Pennsylvania.

Improvement of growth and intelligence in individuals with deletions of 18q treated with growth hormone (1999).  Cody JD, Hale DE, Semrud-Clikeman M, Ghidoni PD, Schaub RB, Thompson NM, Kaye CI, Leach RJ. American Society of Human Genetics Annual Meeting.  San Francisco, California.

Neurologic abnormalities of the 18q– syndrome and the effect of growth hormone on white matter MRI relaxation times (2000). Hardies LJ, Lancaster JL, Gay C, Cody JD, Leach RJ, Fox PT. p. 131. (Neuroimage; vol. 11).

Improvements of growth and intelligence in individuals with deletions of 18q treated with growth hormone (2000). Cody JD, Hale DE, Semrud-Clikeman M, Ghidoni PD, Schaub RL, Thompson NM, Coon H, Baillargeon JG, Kaye CI, Leach RJ. p. 241. (J Intellectual Disab Res; vol. 44).

Growth hormone improves growth and performance IQ in children with 18q deletions (1999). Hale DE, Cody JD, Semrud-Clikeman M, Ghidoni PD, Schaub RL, Thompson NM, Kaye CI, Leach RJ. (National Cooperative Growth Study).

Reevaluation of frequencies of selected features in patients with the 18p– syndrome (1999). Schaub RL, Leach RJ, Cody JD (1999). American Society of Human Genetics. San Francisco, California.

Incidence of autism and attention deficit hyperactivity disorder (ADHD) in individuals with deletions of 18q (1999). Semrud-Clikeman M, Cody JD, Kaye CI, Leach RJ. American Society of Human Genetics. San Francisco, California.

Identification of a phenotype associated with loss of the DCC gene on chromosome 18 (1999). Leach RJ, Semrud-Clikeman M, Thompson NM, Ghidoni PD, Gay CT, Hardies LJ, Lancaster RL, Schaub R, Kaye CI, Cody JD. American Society of Human Genetics. San Francisco, California.

Expression of non-deleted genes in the 18q– syndrome (1999). O‘Connell P, Hilsenbeck SG, Cody JD, Wang Z, Leach RJ. American Society of Human Genetics. San Francsico, California.

Genetic Support Groups: Significant others in the conduct of human genetic research (1999). Carey JC, Cody JD, ad hoc Committee for Consumer Issues. American Society of Human Genetics. San Francisco, California.

Thyrotropin (THS) response to thyrotropin releasing hormone (TRH) in children with the 18q– syndrome (1998). Hale DE, Cody JD, Schaub, RL, Kaye CI, Leach RJ. Pediatr Res.

Prolactin response to thyrotropin releasing hormone (TRH) in children with 18q– syndrome (1998). Hale DE, Cody JD, Schaub RL, Kaye CI, Leach RJ. Pediatr Res

Neurologic features of 18q– syndrome: a prospective analysis (1998). Gay CT, Muller S, Cody JD, Hardies LJ, Ghidoni PD, Kaye CI, Leach RJ. p. 541-542. (Ann Neuol; vol. 44).

Intelligence associated with deletion size in children with 18q– syndrome (1998). Thompson NM, Cody JD, McClure E, Kaye CI, Leach RJ. American Society of Human Genetics. Denver, Colorado.

Evidence for breakpoint clustering in the 18p– syndrome (1998). Leach RJ, Schaub RL, Cody JD. American Society of Human Genetics Annual Meeting. Denver, Colorado.

Endocrine abnormalities in children with 18q– syndrome (1998). Kaye CI, Cody JD, Schaub RL, Leach RJ, Hale DE. American Society of Human Genetics Annual Meeting. Denver, Colorado.

Congenital anomalies and anthropometry of 42 individuals with deletions of 18q (1998). Cody JD, Ghidoni PD, DuPont BR, Hale DE, Hilsenbeck SG, Stratton RF, Hoffman DS, Muller S, Schaub, RL, Leach RJ, Kaye CI. American Society of Human Genetics Annual Meeting. Denver, Colorado.

18q– syndrome: a preliminary report of audiologic and otologic findings (1998). Beck WG, Hoffman DS, Sloan TB, Leach RJ, Cody JD. 18q- syndrome: A preliminary report of audiologic and otologic findings. American Speech-Language-Hearing Association Meeting. (ASHA Leader; vol. 3).

 

Genetic and neuroradiologic determinants of intelligence in 18q– syndrome (1997).  Thompson NM, Gay C, Cody JD, McClure EB, Hardies LJ, Kaye, CI, Leach RJ. J Int Neuropsychol Soc 3:45.

Co-localization on chromosome 18 of a novel osteosarcoma tumor suppressor gene with a predisposition gene for Paget’s disease (1997).  Hansen MF, Nelissery M, Cody JD, Singer FR, Roodman GD, Leach RJ. J Bone Miner Res 12: 108.

Chromosome 18 paracentric inversion in a family with mental retardation and hearing loss (1996). Keppler-Noreuil KM, Proud VK, Descartes M, Carroll AJ, Finley WH, DuPont BR, Cody JD, Leach RJ. American College of Medical Genetics Annual Meeting.

Evidence of a locus for Paget’s disease of the bone on human chromosome 18q (1996). Leach RJ, Singer FR, Lewis TB, Cody JD, Reddy SV, Whyte MP, Roodman GD. p. 99. (J Bone Miner Res; vol. 11).

Identification of cryptic rearrangements in patients with 18q deletion syndrome (1996). Brkanac Z, Cody JD, Leach RJ, DuPont BR. American Society of Human Genetics. San Francisco, California.

Growth hormone insufficiency associated with a deletion of 2 Mb at 18q23 (1996). Cody JD, Hale DE, Brkanac Z, Kaye CI, Leach RJ. Growth hormone insufficiency associated with a deletion of 2 Mb at 18q23. American Society of Human Genetics. San Francisco, California.

Magnetic resonance imaging relaxometry of delayed myelination in the 18q– syndrome: correlation with myelin basic protein genotype (1995). Gay CT, Hardies LJ, Rauch RA, Lancaster JL, Plaetke R, DuPont BR, Cody JD, Herndon RC, Ghidoni PD, Schiff JM, Kaye CI, Leach RJ, Fox PT. p. 520. (Ann Neurol; vol. 38).

Growth failure and growth hormone deficiency in 18q– syndrome (1995). Hale DE, Ghidoni PD, Kaye CI, Cody JD, Galbreath DS, Leach RJ, Gay CT, Danney MM. p. 90. (Pediatr Res; vol. 37).

Cognitive/behavioral phenotype in 18q– syndrome (1995). Thompson NM, McClure EB, Ghidoni PD, Galbreath DS, Cody JD, Gay CT, Sloan TB, Leach RJ, Kaye CI. Cognitive/behavioral phenotype in 18q- syndrome. p. 153. (Pediatr Res; vol. 37).

Phenotypic analysis of 18q– patients (1995). Ghidoni PD, Cody JD, Galbreath D, Plaetke R, Hale DE, Sloan TB, Gay CT, Rauch R, Leach RJ, Kaye CI. American Society of Human Genetics. Minneapolis, Minnesota.

MR imaging of the changes in the white matter associated with deletion of the long arm of chromosome 18 (the 18q minus syndrome) (1995). Rauch R, Gay C, Floyd LJ, Cody JD, Ghidoni P, Leach RJ, Lancaster JL, Kaye CI, Fox PT. (American Society of Neuroradiology Abstract).

Genotype at the myelin basic protein locus with correlation to MRI in the 18q– syndrome (1995). DuPont BR, Gay C, Cody JD, Plaetke R, Hardies LJ, Rauch R, Ghidoni PD, Fox PT, Kaye CI, Leach RJ. American Society of Human Genetics. Minneapolis, Minnesota.

Radiation-reduced hybrid panel for human chromosome 18 (1995). Leach RJ, Cody JD. p. 118. (Cytogenet Cell Genet; vol. 71).

Growth hormone deficiency in 18q– deletion syndrome (1994). Ghidoni PD, Cody JD, Danney M, Rauch R, Gay C, Leach RJ, Kaye CI. American Society of Human Genetics Annual Meeting. Montreal, Canada.