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Faculty and Staff Profile

Sara M. Sarasua, PhD, MSPH

Assistant Professor
Healthcare Genetics

Office: 436 Edwards Hall
Phone: (864) 656-0625

 Educational Background

PhD Genetics
Clemson University 2012

MSPH Epidemiology
University of North Carolina, Chapel Hill 1990

BA Biochemistry
University of California, Berkeley 1987

 Research Interests

Genetic Epidemiology & Statistical Genetics
Etiology of adhesive capsulitis
Phelan-McDermid syndrome (22q13 deletion syndrome)
Copy number variant associated diseases
Lysosomal storage disorders, alpha mannosidosis, mucolipidosis
Rett Syndrome, atypical Rett syndrome
Multiomic approaches to migraine etiology
Genomic analysis of speech and language delay, seizures, birth defects, developmental delay

 Research Publications

Since 2008

Ziats CA, Grosvenor LP, Sarasua SM, Thurm AE, Swedo SE, Mahfouz A, Rennert OM, Ziats MN. Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment. PLOS ONE 2019 March 15: 1-12.

Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE,
Thurm A. Identification of 22q13 genes most likely to contribute to Phelan
McDermid syndrome. Eur J Hum Genet. 2018 Mar;26(3):293-302. doi:

Egan BM, Li J, Sarasua SM, Davis RA, Fiscella KA, Tobin JN, Jones DW, Sinopoli
A. Cholesterol Control Among Uninsured Adults Did Not Improve From 2001-2004 to
2009-2012 as Disparities With Both Publicly and Privately Insured Adults Doubled.
J Am Heart Assoc. 2017 Nov 2;6(11). pii: e006105. doi: 10.1161/JAHA.117.006105.

Sarasua SM, Li J, Hernandez GT, Ferdinand KC, Tobin JN, Fiscella KA, Jones DW,
Sinopoli A, Egan BM. Opportunities for improving cardiovascular health outcomes
in adults younger than 65 years with guideline-recommended statin therapy. J Clin
Hypertens (Greenwich). 2017 Sep;19(9):850-860. doi: 10.1111/jch.13004.

Saleh LM, Wang W, Herman SE, Saba NS, Anastas V, Barber E, Corrigan-Cummins M,
Farooqui M, Sun C, Sarasua SM, Zhao Z, Abousamra NK, Elbaz O, Abdelghaffar HA,
Wiestner A, Calvo KR. Ibrutinib downregulates a subset of miRNA leading to
upregulation of tumor suppressors and inhibition of cell proliferation in chronic
lymphocytic leukemia. Leukemia. 2017 Feb;31(2):340-349. doi:

Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Autism spectrum
disorder in Phelan-McDermid syndrome: initial characterization and
genotype-phenotype correlations. Orphanet J Rare Dis. 2015 Aug 27;10:105. doi:

Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE. Letter to the editor
regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3
gene: a new contiguous gene syndrome. Am J Med Genet A. 2015 Jul;167(7):1679-80.
doi: 10.1002/ajmg.a.36788.

Bupp CP, Sarasua SM, Dean JH, Stevenson RE. When folic acid fails: Insights
from 20 years of neural tube defect surveillance in South Carolina. Am J Med
Genet A. 2015 Oct;167A(10):2244-50. doi: 10.1002/ajmg.a.37168.

Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC,
Phelan K, DuPont BR. Clinical and genomic evaluation of 201 patients with
Phelan-McDermid syndrome. Hum Genet. 2014 Jul;133(7):847-59. doi:

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS,
Rogers RC, Phelan K, DuPont BR. 22q13.2q13.32 genomic regions associated with
severity of speech delay, developmental delay, and physical features in
Phelan-McDermid syndrome. Genet Med. 2014 Apr;16(4):318-28. doi:

Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi
D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G,
Stevenson RE, Gurrieri F, Schwartz CE. Prevalence of SHANK3 variants in patients
with different subtypes of autism spectrum disorders. Eur J Hum Genet. 2013
Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175.

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K,
DuPont BR, Collins JS. Association between deletion size and important phenotypes
expands the genomic region of interest in Phelan-McDermid syndrome (22q13
deletion syndrome). J Med Genet. 2011 Nov;48(11):761-6. doi:

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Growth in
Phelan-McDermid syndrome. Am J Med Genet A. 2011 Sep;155A(9):2324-6. doi:

Sarasua SM, Collins JS, Williamson DM, Satten GA, Allen AS. Effect of
population stratification on the identification of significant single-nucleotide
polymorphisms in genome-wide association studies. BMC Proc. 2009 Dec 15;3 Suppl


Link to my publications