Rogers C - Search Results

1

Updated consensus guidelines on the management of Phelan-McDermid syndrome.

Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE Jr, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL Jr, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Srivastava S, et al. Among authors: rogers c. Am J Med Genet A. 2023 Aug;191(8):2015-2044. doi: 10.1002/ajmg.a.63312. Epub 2023 Jul 1. Am J Med Genet A. 2023. PMID: 37392087 Review.

2

Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.

Smith MS, Sarasua SM, Rogers C, Phelan K, Boccuto L. Smith MS, et al. Among authors: rogers c. Clin Genet. 2023 Oct;104(4):472-478. doi: 10.1111/cge.14364. Epub 2023 May 26. Clin Genet. 2023. PMID: 37232218

3

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: rogers c. 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.

4

Genetic and metabolic profiling of individuals with Phelan-McDermid syndrome presenting with seizures.

Jain L, Oberman LM, Beamer L, Cascio L, May M, Srikanth S, Skinner C, Jones K, Allen B, Rogers C, Phelan K, Kaufmann WE, DuPont B, Sarasua SM, Boccuto L. Jain L, et al. Among authors: rogers c. Clin Genet. 2022 Jan;101(1):87-100. doi: 10.1111/cge.14074. Epub 2021 Oct 27. Clin Genet. 2022. PMID: 34664257

5

Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors.

Boccuto L, Mitz A, Abenavoli L, Sarasua SM, Bennett W, Rogers C, DuPont B, Phelan K. Boccuto L, et al. Among authors: rogers c. Genes (Basel). 2022 Mar 17;13(3):528. doi: 10.3390/genes13030528. Genes (Basel). 2022. PMID: 35328081 Free PMC article.

6

Sleep and Phelan-McDermid Syndrome: Lessons from the International Registry and the scientific literature.

Moffitt BA, Sarasua SM, Ward L, Ivankovic D, Valentine K, Rogers C, Phelan K, Boccuto L. Moffitt BA, et al. Among authors: rogers c. Mol Genet Genomic Med. 2022 Oct;10(10):e2035. doi: 10.1002/mgg3.2035. Epub 2022 Aug 23. Mol Genet Genomic Med. 2022. PMID: 35996993 Free PMC article.

7

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: rogers c. Genes (Basel). 2021 Jul 30;12(8):1192. doi: 10.3390/genes12081192. Genes (Basel). 2021. PMID: 34440366 Free PMC article. Review.

8

Head Size in Phelan-McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13.

Sarasua SM, DeLuca JM, Rogers C, Phelan K, Rennert L, Powder KE, Weisensee K, Boccuto L. Sarasua SM, et al. Among authors: rogers c. Genes (Basel). 2023 Feb 21;14(3):540. doi: 10.3390/genes14030540. Genes (Basel). 2023. PMID: 36980813 Free PMC article. Review.

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: rogers c. 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

The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?

Li D, Ahrens-Nicklas RC, Baker J, Bhambhani V, Calhoun A, Cohen JS, Deardorff MA, Fernández-Jaén A, Kamien B, Jain M, Mckenzie F, Mintz M, Motter C, Niles K, Ritter A, Rogers C, Roifman M, Townshend S, Ward-Melver C, Schrier Vergano SA. Li D, et al. Among authors: rogers c. Am J Med Genet A. 2020 Sep;182(9):2058-2067. doi: 10.1002/ajmg.a.61732. Epub 2020 Jul 20. Am J Med Genet A. 2020. PMID: 32686290

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