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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
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2008 3
2010 1
2011 3
2013 1
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2022 6
2023 8
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Page 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: phelan k. 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.
Phelan-McDermid Syndrome.
Phelan K, Rogers RC, Boccuto L. Phelan K, et al. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 May 11 [updated 2018 Jun 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301377 Free Books & Documents. Review.
Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome.
Vitrac A, Leblond CS, Rolland T, Cliquet F, Mathieu A, Maruani A, Delorme R, Schön M, Grabrucker AM, van Ravenswaaij-Arts C, Phelan K, Tabet AC, Bourgeron T. Vitrac A, et al. Among authors: phelan k. Eur J Med Genet. 2023 May;66(5):104732. doi: 10.1016/j.ejmg.2023.104732. Epub 2023 Feb 21. Eur J Med Genet. 2023. PMID: 36822569 Free article. Review.
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.
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. 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.
33 results