Sara M Sarasua

Summary

Affiliation: Clemson University
Country: USA

Publications

  1. 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
  2. ncbi request reprint 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome
    Sara M Sarasua
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Genet Med 16:318-28. 2014
  3. ncbi request reprint Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome
    Sara M Sarasua
    Office of Bioinformatics and Epidemiology, Greenwood Genetic Center, 101 Gregor Mendel Circle, Greenwood, SC, 29646, USA
    Hum Genet 133:847-59. 2014
  4. 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
  5. 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

Collaborators

Detail Information

Publications5

  1. 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...
  2. ncbi request reprint 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome
    Sara M Sarasua
    Greenwood Genetic Center, Greenwood, South Carolina, USA
    Genet Med 16:318-28. 2014
    ..Our statistical approach may be useful in genotype-phenotype analyses for other microdeletion or microduplication syndromes.Genet Med 2014:16(4):318-328. ..
  3. ncbi request reprint Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome
    Sara 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. ..
  4. 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...
  5. 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...