Sara M Sarasua
Affiliation: Clemson University
- 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...
- Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndromeSara M Sarasua
Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC, 29646, USA
Hum Genet 133:847-59. 2014..This analysis improves the understanding of the clinical presentation and natural history of PMS and can serve as a reference for the prevalence of clinical features in the syndrome...
- 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...
- 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...