Julianne S Collins

Summary

Affiliation: Greenwood Genetic Center
Country: USA

Publications

  1. doi request reprint Public health projects for preventing the recurrence of neural tube defects in the United States
    Julianne S Collins
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Birth Defects Res A Clin Mol Teratol 85:935-8. 2009
  2. pmc Effect of population stratification on the identification of significant single-nucleotide polymorphisms in genome-wide association studies
    Sara M Sarasua
    Department of Genetics and Biochemistry, Clemson University, 100 Jordan Hall, Clemson, South Carolina 29634 0318, USA
    BMC Proc 3:S13. 2009
  3. pmc Bootstrap calibration of TRANSMIT for informative missingness of parental genotype data
    Andrew S Allen
    Department of Biostatistics and Bioinformatics and Duke Clinical Research Institute, Duke University, Durham, North Carolina, USA
    BMC Genet 4:S39. 2003
  4. doi request reprint Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)
    Sara M Sarasua
    Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    J Med Genet 48:761-6. 2011
  5. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, Greenwood, SC, USA
    Eur J Hum Genet 21:310-6. 2013
  6. pmc Long term maintenance of neural tube defects prevention in a high prevalence state
    Julianne S Collins
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    J Pediatr 159:143-149.e2. 2011
  7. ncbi request reprint Neural tube defects and associated anomalies in South Carolina
    Roger E Stevenson
    Greenwood Genetic Center, South Carolina 29646, USA
    Birth Defects Res A Clin Mol Teratol 70:554-8. 2004
  8. doi request reprint Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder
    Pamela B Jackson
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
    Autism Res 2:232-6. 2009
  9. doi request reprint Fragile X syndrome detection in newborns-pilot study
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genet Med 10:714-9. 2008
  10. ncbi request reprint Prenatal diagnostic accuracy in South Carolina demonstrated by autopsy
    Robert Roger Lebel
    Center for Anatomic Studies, Greenwood Genetic Center, Greenwood, Greenwood, SC 29646, USA
    Fetal Pediatr Pathol 28:253-61. 2009

Collaborators

Detail Information

Publications10

  1. doi request reprint Public health projects for preventing the recurrence of neural tube defects in the United States
    Julianne S Collins
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC 29646, USA
    Birth Defects Res A Clin Mol Teratol 85:935-8. 2009
    ..This study surveyed birth defect surveillance programs to assess their NTD recurrence prevention activities and to identify components of intervention projects that might be implemented in states with limited resources...
  2. pmc Effect of population stratification on the identification of significant single-nucleotide polymorphisms in genome-wide association studies
    Sara M Sarasua
    Department of Genetics and Biochemistry, Clemson University, 100 Jordan Hall, Clemson, South Carolina 29634 0318, USA
    BMC Proc 3:S13. 2009
    ..In particular, we find no evidence for association of TRAF1-C5 with rheumatoid arthritis...
  3. pmc Bootstrap calibration of TRANSMIT for informative missingness of parental genotype data
    Andrew S Allen
    Department of Biostatistics and Bioinformatics and Duke Clinical Research Institute, Duke University, Durham, North Carolina, USA
    BMC Genet 4:S39. 2003
    ..We illustrate this approach by applying it to data on hypertensive probands and their parents who participated in the Framingham Heart Study...
  4. doi request reprint Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome)
    Sara M Sarasua
    Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    J Med Genet 48:761-6. 2011
    ..Patient deletion sizes are also highly variable, prompting this genotype-phenotype association study...
  5. pmc Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders
    Luigi Boccuto
    Greenwood Genetic Center, Greenwood, SC, USA
    Eur J Hum Genet 21:310-6. 2013
    ..This represents the first evidence of a genotype-phenotype correlation in ASDs and highlights the importance of a detailed clinical-neuropsychiatric evaluation for the effective genetic screening of ASD patients...
  6. pmc Long term maintenance of neural tube defects prevention in a high prevalence state
    Julianne S Collins
    Greenwood Genetic Center, Greenwood, SC 29646, USA
    J Pediatr 159:143-149.e2. 2011
    ..To assess the efficacy of folic acid (FA) supplementation and fortification in preventing neural tube defects (NTDs) in a high prevalence region of the United States...
  7. ncbi request reprint Neural tube defects and associated anomalies in South Carolina
    Roger E Stevenson
    Greenwood Genetic Center, South Carolina 29646, USA
    Birth Defects Res A Clin Mol Teratol 70:554-8. 2004
    ..Neural tube defects (NTDs) occur as isolated malformations and in the company of other birth defects. This study was conducted to determine the frequency of coexisting anomalies and the relationship between them...
  8. doi request reprint Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder
    Pamela B Jackson
    JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA
    Autism Res 2:232-6. 2009
    ..20; 95% CI=0.56-2.56; chi(2)=0.2, df=1, P=0.64). This study is the third independent study to find the rs1858830 C variant in the MET gene promoter to be associated with autism...
  9. doi request reprint Fragile X syndrome detection in newborns-pilot study
    Robert A Saul
    Greenwood Genetic Center, Greenwood, South Carolina 29646, USA
    Genet Med 10:714-9. 2008
    ..A pilot study was conducted to establish the feasibility of newborn screening for fragile X syndrome...
  10. ncbi request reprint Prenatal diagnostic accuracy in South Carolina demonstrated by autopsy
    Robert Roger Lebel
    Center for Anatomic Studies, Greenwood Genetic Center, Greenwood, Greenwood, SC 29646, USA
    Fetal Pediatr Pathol 28:253-61. 2009
    ..The low sensitivity was due in large part to the relatively subtle nature of many autopsy findings that had not been predicted by prenatal examination...