Research InterestsGenetic Epidemiology & Statistical Genetics
Etiology of adhesive capsulitis
Phelan-McDermid syndrome (22q13 deletion syndrome)
Copy number variant associated diseases
Metabolomics
Genomic analysis of speech and language delay, seizures, birth defects, developmental delay Research PublicationsSince 2008
Meaddough EL, Sarasua SM, Fasolino TK, Farrell CL. The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review. Pharmacogenomics J. 2021 Aug;21(4):409-422. doi:10.1038/s4139-021-00224-w.
Meaddough E, Abenavoli L, Sarasua S, Boccuto L. Genetic and environmental factors influencing the interaction between the gut microbiota and the human host: implications for gastrointestinal disorders and treatment approaches. Minerva Gastroenterol 2021 May 31. doi: 10.23736/S2724-5985.21.02927-2.
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Comprehensive investigation of the phenotype of MEF2C-related disorders in human patients: A systematic review. Am J Med Genet A. 2021 June 29. doi: 10.1002/ajmg.a.62412
Cooley Coleman JA, Sarasua SM, Boccuto L, Moore HW, Skinner SA, DeLuca JM. Tremors: A concept analysis. Nurs Open. 2021 Apr 2. doi: 10.1002/nop2.840. Online ahead of print.
PMID: 33797860
Srikanth S, Jain L, Zepeda-Mendoza C, Cascio L, Jones K, Pauly R, DuPont B, Rogers C, Sarasua S, Phelan K, Morton C, Boccuto L. Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome. PLoS One. 2021 Jul 6;16(7):e0253859. doi: 10.1371/journal.pone.0253859
Schenkel LC, Aref-Eshghi E, Rooney K, Kerkhof J, Levy MA, McConkey H, Rogers RC, Phelan K, Sarasua SM, Jain L, Pauly R, Boccuto L, DuPont B, Cappuccio G, Brunetti-Pierri N, Schwartz CE, Sadikovic B.DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7.
Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature. Eur J Med Genet. 2020 Nov;63(11):104042. doi: 10.1016/j.ejmg.2020.104042
Cathey SS, Sarasua SM, Simensen R, Pietris K, Kimbrell G, Sillence D, Wilson C, Horowitz L. Intellectual functioning in alpha-mannosidosis. JIMD Rep. 2019 Sep 21;50(1):44-49. doi: 10.1002/jmd2.12073.
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:
10.1038/s41431-017-0042-x.
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:
10.1038/leu.2016.181.
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:
10.1186/s13023-015-0323-9.
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:
10.1007/s00439-014-1423-7.
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:
10.1038/gim.2013.144.
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:
10.1136/jmedgenet-2011-100225.
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:
10.1002/ajmg.a.34158.
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
7:S13.
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