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. 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 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

Collaborators

  • Marcella Zollino
  • Fiorella Gurrieri
  • R Curtis Rogers
  • Luigi Boccuto
  • Danilo Tiziano
  • Giovanni Neri
  • Alka Dwivedi
  • Charles E Schwartz
  • Richard J Schroer
  • Daniela Buccella
  • Roger E Stevenson
  • Maria Lauri
  • Paola Visconti
  • Julianne S Collins
  • Cindy D Skinner
  • Barb Dupont
  • Daniela Orteschi

Detail Information

Publications3

  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. 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 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...