Julianne S Collins
Affiliation: Greenwood Genetic Center
- Public health projects for preventing the recurrence of neural tube defects in the United StatesJulianne 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...
- Effect of population stratification on the identification of significant single-nucleotide polymorphisms in genome-wide association studiesSara 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...
- Bootstrap calibration of TRANSMIT for informative missingness of parental genotype dataAndrew 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...
- 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndromeSara M Sarasua
Greenwood Genetic Center, Greenwood, South Carolina, USA
Genet Med 16:318-28. 2014..We tested the hypothesis that, in addition to loss of the telomeric gene SHANK3, specific genomic regions within 22q13 are associated with important clinical features...
- Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disordersLuigi 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...
- 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...
- Long term maintenance of neural tube defects prevention in a high prevalence stateJulianne 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...
- Neural tube defects and associated anomalies in South CarolinaRoger 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...
- Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorderPamela 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...
- Fragile X syndrome detection in newborns-pilot studyRobert 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...
- Prenatal diagnostic accuracy in South Carolina demonstrated by autopsyRobert 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...