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65 results

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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: soorya lv. 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 Free PMC article. Review.
Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome.
Moses RG, Similuk M, Hehn A, Duncan R, Pekar M, Gordon-Lipkin E, Acosta MT, Zeltser D, Reynolds-Lallement N, Soorya L, Sahin M, Levy T, Kolevzon A, Buxbaum JD, Berry-Kravis E, Powell CM, Bernstein JA, Tokita M, Seifert BA, Ghosh R, Walkiewicz MA, Thurm A. Moses RG, et al. Among authors: soorya l. Am J Med Genet B Neuropsychiatr Genet. 2025 Oct;198(7):126-134. doi: 10.1002/ajmg.b.33036. Epub 2025 Jun 16. Am J Med Genet B Neuropsychiatr Genet. 2025. PMID: 40519070
Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs.
Levy T, Farmer C, Srivastava S, Johnson K, Trayvick J, Brune C, Massa A, Silver H, Siper PM, Zweifach J, Halpern D, Foss-Feig JH, Bernstein JA, Berry-Kravis E, Powell CM, Sahin M, Soorya LV, Thurm A, Buxbaum JD, Kolevzon A; Developmental Synaptopathies Consortium. Levy T, et al. Among authors: soorya lv. Am J Intellect Dev Disabil. 2025 Sep 1;130(5):395-413. doi: 10.1352/1944-7558.130.5.395. Am J Intellect Dev Disabil. 2025. PMID: 40858310
Advancing paternal age and simplex autism.
Puleo CM, Schmeidler J, Reichenberg A, Kolevzon A, Soorya LV, Buxbaum JD, Silverman JM. Puleo CM, et al. Among authors: soorya lv. Autism. 2012 Jul;16(4):367-80. doi: 10.1177/1362361311427154. Epub 2011 Dec 16. Autism. 2012. PMID: 22180389
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome.
Breen MS, Fan X, Levy T, Pollak RM, Collins B, Osman A, Tocheva AS, Sahin M, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Kolevzon A, Buxbaum JD; Developmental Synaptopathies Consortium. Breen MS, et al. Among authors: soorya l. HGG Adv. 2022 Sep 26;4(1):100145. doi: 10.1016/j.xhgg.2022.100145. eCollection 2023 Jan 12. HGG Adv. 2022. PMID: 36276299 Free PMC article.
Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome.
Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL; Developmental Synaptopathies Consortium. Srivastava S, et al. Among authors: soorya l. J Neurodev Disord. 2021 Nov 5;13(1):53. doi: 10.1186/s11689-021-09398-7. J Neurodev Disord. 2021. PMID: 34740315 Free PMC article.
Endocrine disruptors and childhood social impairment.
Miodovnik A, Engel SM, Zhu C, Ye X, Soorya LV, Silva MJ, Calafat AM, Wolff MS. Miodovnik A, et al. Among authors: soorya lv. Neurotoxicology. 2011 Mar;32(2):261-7. doi: 10.1016/j.neuro.2010.12.009. Epub 2010 Dec 21. Neurotoxicology. 2011. PMID: 21182865 Free PMC article.
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome.
Levy T, Gluckman J, Siper PM, Halpern D, Zweifach J, Filip-Dhima R, Holder JL Jr, Trelles MP, Johnson K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Buxbaum JD, Sahin M, Kolevzon A, Srivastava S; Developmental Synaptopathies Consortium. Levy T, et al. Among authors: soorya lv. J Neurodev Disord. 2024 May 10;16(1):25. doi: 10.1186/s11689-024-09541-0. J Neurodev Disord. 2024. PMID: 38730350 Free PMC article.
65 results