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Items: 16

1.

Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.

Mitz AR, Philyaw TJ, Boccuto L, Shcheglovitov A, Sarasua SM, Kaufmann WE, Thurm A.

Eur J Hum Genet. 2018 Mar;26(3):293-302. doi: 10.1038/s41431-017-0042-x. Epub 2018 Jan 22. Review.

2.

Cholesterol Control Among Uninsured Adults Did Not Improve From 2001-2004 to 2009-2012 as Disparities With Both Publicly and Privately Insured Adults Doubled.

Egan BM, Li J, Sarasua SM, Davis RA, Fiscella KA, Tobin JN, Jones DW, Sinopoli A.

J Am Heart Assoc. 2017 Nov 2;6(11). pii: e006105. doi: 10.1161/JAHA.117.006105.

3.

Opportunities for improving cardiovascular health outcomes in adults younger than 65 years with guideline-recommended statin therapy.

Sarasua SM, Li J, Hernandez GT, Ferdinand KC, Tobin JN, Fiscella KA, Jones DW, Sinopoli A, Egan BM.

J Clin Hypertens (Greenwich). 2017 Sep;19(9):850-860. doi: 10.1111/jch.13004. Epub 2017 May 7.

4.

Ibrutinib downregulates a subset of miRNA leading to upregulation of tumor suppressors and inhibition of cell proliferation in chronic lymphocytic leukemia.

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.

Leukemia. 2017 Feb;31(2):340-349. doi: 10.1038/leu.2016.181. Epub 2016 Jun 24.

PMID:
27431016
5.

Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

Phelan K, Boccuto L, Rogers RC, Sarasua SM, McDermid HE.

Am J Med Genet A. 2015 Jul;167(7):1679-80. doi: 10.1002/ajmg.a.36788. No abstract available.

PMID:
26295085
6.

When folic acid fails: Insights from 20 years of neural tube defect surveillance in South Carolina.

Bupp CP, Sarasua SM, Dean JH, Stevenson RE.

Am J Med Genet A. 2015 Oct;167A(10):2244-50. doi: 10.1002/ajmg.a.37168. Epub 2015 Jun 24.

PMID:
26108864
7.

Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.

Sarasua SM, Boccuto L, Sharp JL, Dwivedi A, Chen CF, Rollins JD, Rogers RC, Phelan K, DuPont BR.

Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31.

PMID:
24481935
8.

22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome.

Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, DuPont BR.

Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17.

PMID:
24136618
9.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders.

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.

Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15.

10.

Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome).

Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS.

J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7.

PMID:
21984749
11.

Growth in Phelan-McDermid syndrome.

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS.

Am J Med Genet A. 2011 Sep;155A(9):2324-6. doi: 10.1002/ajmg.a.34158. Epub 2011 Aug 10. No abstract available.

PMID:
21834045
12.
13.

Confirming the utility of four kidney biomarker tests in a longitudinal follow-up study.

Sarasua SM, Mueller P, Kathman S, Campagna D, Uddin MS, White MC.

Ren Fail. 2003 Sep;25(5):797-817.

PMID:
14575288
14.

Influence of environmental zinc on the association between environmental and biological measures of lead in children.

Noonan CW, Kathman SJ, Sarasua SM, White MC.

J Expo Anal Environ Epidemiol. 2003 Jul;13(4):318-23.

15.

Effects of exposure to low levels of environmental cadmium on renal biomarkers.

Noonan CW, Sarasua SM, Campagna D, Kathman SJ, Lybarger JA, Mueller PW.

Environ Health Perspect. 2002 Feb;110(2):151-5.

16.

Serum immunoglobulins and lymphocyte subset distributions in children and adults living in communities assessed for lead and cadmium exposure.

Sarasua SM, Vogt RF, Henderson LO, Jones PA, Lybarger JA.

J Toxicol Environ Health A. 2000 May 12;60(1):1-15.

PMID:
10832614

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