Phelan K - Search Results

1

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. Among authors: phelan k. Hum Genet. 2014 Jul;133(7):847-59. doi: 10.1007/s00439-014-1423-7. Epub 2014 Jan 31. Hum Genet. 2014. PMID: 24481935

2

Growth in Phelan-McDermid syndrome.

Rollins JD, Sarasua SM, Phelan K, DuPont BR, Rogers RC, Collins JS. Rollins JD, et al. Among authors: phelan k. 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. Among authors: phelan k. 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

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. Among authors: phelan k. 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.

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. Phelan K, et al. 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.

6

Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.

Boccuto L, Abenavoli L, Cascio L, Srikanth S, DuPont B, Mitz AR, Rogers RC, Phelan K. Boccuto L, et al. Among authors: phelan k. Clin Genet. 2018 Dec;94(6):590-591. doi: 10.1111/cge.13451. Epub 2018 Oct 11. Clin Genet. 2018. PMID: 30308089

7

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. Among authors: phelan k. 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.

8

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: phelan k. Clin Epigenetics. 2021 Jan 6;13(1):2. doi: 10.1186/s13148-020-00990-7. Clin Epigenetics. 2021. PMID: 33407854 Free PMC article.

9

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

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. Srikanth S, et al. Among authors: phelan k. PLoS One. 2021 Jul 6;16(7):e0253859. doi: 10.1371/journal.pone.0253859. eCollection 2021. PLoS One. 2021. PMID: 34228749 Free PMC article.

10

Genetic Findings as the Potential Basis of Personalized Pharmacotherapy in Phelan-McDermid Syndrome.

Dyar B, Meaddough E, Sarasua SM, Rogers C, Phelan K, Boccuto L. Dyar B, et al. Among authors: phelan k. Genes (Basel). 2021 Jul 30;12(8):1192. doi: 10.3390/genes12081192. Genes (Basel). 2021. PMID: 34440366 Free PMC article. Review.

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