Sarasua SM - Search Results

1

DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

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. Schenkel LC, et al. Among authors: sarasua sm. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. Clin Epigenetics. 2021. PMID: 33407854 Free PMC article.

2

Growth in Phelan-McDermid syndrome.

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Rollins JD, et al. Among authors: sarasua sm. Am J Med Genet A. 2011 Sep;155A(9):2324-6. doi: 10.1002/ajmg.a.34158. Epub 2011 Aug 10. Am J Med Genet A. 2011. PMID: 21834045 No abstract available.

3

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. Sarasua SM, et al. J Med Genet. 2011 Nov;48(11):761-6. doi: 10.1136/jmedgenet-2011-100225. Epub 2011 Oct 7. J Med Genet. 2011. PMID: 21984749

4

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. Boccuto L, et al. Among authors: sarasua sm. Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15. Eur J Hum Genet. 2013. PMID: 22892527 Free PMC article.

5

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. Sarasua SM, et al. Genet Med. 2014 Apr;16(4):318-28. doi: 10.1038/gim.2013.144. Epub 2013 Oct 17. Genet Med. 2014. PMID: 24136618 Free article.

6

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. Sarasua SM, et al. Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31. Hum Genet. 2014. PMID: 24481935

7

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. Phelan K, et al. Among authors: sarasua sm. Am J Med Genet A. 2015 Jul;167(7):1679-80. doi: 10.1002/ajmg.a.36788. Am J Med Genet A. 2015. PMID: 26295085 No abstract available.

8

Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

Oberman LM, Boccuto L, Cascio L, Sarasua S, Kaufmann WE. Oberman LM, et al. Orphanet J Rare Dis. 2015 Aug 27;10:105. doi: 10.1186/s13023-015-0323-9. Orphanet J Rare Dis. 2015. PMID: 26306707 Free PMC article.

9

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. Mitz AR, et al. Among authors: sarasua sm. Eur J Hum Genet. 2018 Mar;26(3):293-302. doi: 10.1038/s41431-017-0042-x. Epub 2018 Jan 22. Eur J Hum Genet. 2018. PMID: 29358616 Free PMC article.

10

Neurofibromatosis type 2 in Phelan-McDermid syndrome: Institutional experience and review of the literature.

Ziats CA, Jain L, McLarney B, Vandenboom E, DuPont BR, Rogers C, Sarasua S, Nevado J, Cordisco EL, Phelan K, Boccuto L. Ziats CA, et al. Eur J Med Genet. 2020 Nov;63(11):104042. doi: 10.1016/j.ejmg.2020.104042. Epub 2020 Aug 19. Eur J Med Genet. 2020. PMID: 32822873 Review.

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