Rogers RC - Search Results

1

Phelan-McDermid syndrome: a classification system after 30 years of experience.

Phelan K, Boccuto L, Powell CM, Boeckers TM, van Ravenswaaij-Arts C, Rogers RC, Sala C, Verpelli C, Thurm A, Bennett WE Jr, Winrow CJ, Garrison SR, Toro R, Bourgeron T. Phelan K, et al. Among authors: rogers rc. Orphanet J Rare Dis. 2022 Jan 29;17(1):27. doi: 10.1186/s13023-022-02180-5. Orphanet J Rare Dis. 2022. PMID: 35093143 Free PMC article.

2

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome.

Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Lyons MJ, et al. Among authors: rogers rc. J Med Genet. 2009 Jan;46(1):9-13. doi: 10.1136/jmg.2008.060509. Epub 2008 Sep 19. J Med Genet. 2009. PMID: 18805826

3

Growth in Phelan-McDermid syndrome.

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

4

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: rogers rc. 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

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. Among authors: rogers rc. 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. Among authors: rogers rc. 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: rogers rc. 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

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: rogers rc. Clin Genet. 2018 Dec;94(6):590-591. doi: 10.1111/cge.13451. Epub 2018 Oct 11. Clin Genet. 2018. PMID: 30308089

9

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

10

State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.

McCoy MD, Sarasua SM, DeLuca JM, Davis S, Phelan K, Rogers RC, Boccuto L. McCoy MD, et al. Among authors: rogers rc. Genes (Basel). 2022 Jun 10;13(6):1042. doi: 10.3390/genes13061042. Genes (Basel). 2022. PMID: 35741804 Free PMC article. Review.

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