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432 results

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Page 1
Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Among authors: levy t. Am J Med Genet A. 2025 Jan;197(1):e63872. doi: 10.1002/ajmg.a.63872. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257296
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype.
Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, Arnett AB, Kurtz-Nelson E, Agolini E, Battaglia A, Chiocchetti AG, Freitag CM, Garcia-Alcon A, Grammatico P, Hertz-Picciotto I, Ludena-Rodriguez Y, Moreno C, Novelli A, Parellada M, Pascolini G, Tassone F, Grice DE, Di Marino D, Bernier RA, Kolevzon A, Sharp AJ, Buxbaum JD, Siper PM, De Rubeis S. Breen MS, et al. Among authors: levy t. Am J Hum Genet. 2020 Sep 3;107(3):555-563. doi: 10.1016/j.ajhg.2020.07.003. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758449 Free PMC article.
Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis.
Siper PM, Layton C, Levy T, Lurie S, Benrey N, Zweifach J, Rowe M, Tang L, Guillory S, Halpern D, Giserman-Kiss I, Del Pilar Trelles M, Foss-Feig JH, De Rubeis S, Tavassoli T, Buxbaum JD, Kolevzon A. Siper PM, et al. Among authors: levy t. Genes (Basel). 2021 Feb 27;12(3):351. doi: 10.3390/genes12030351. Genes (Basel). 2021. PMID: 33673501 Free PMC article. Clinical Trial.
Prospective and detailed behavioral phenotyping in DDX3X syndrome.
Tang L, Levy T, Guillory S, Halpern D, Zweifach J, Giserman-Kiss I, Foss-Feig JH, Frank Y, Lozano R, Belani P, Layton C, Lerman B, Frowner E, Breen MS, De Rubeis S, Kostic A, Kolevzon A, Buxbaum JD, Siper PM, Grice DE. Tang L, et al. Among authors: levy t. Mol Autism. 2021 May 16;12(1):36. doi: 10.1186/s13229-021-00431-z. Mol Autism. 2021. PMID: 33993884 Free PMC article.
Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.
Levy T, Foss-Feig JH, Betancur C, Siper PM, Trelles-Thorne MDP, Halpern D, Frank Y, Lozano R, Layton C, Britvan B, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Srivastava S, Sahin M, Soorya L, Thurm A, Kolevzon A; Developmental Synaptopathies Consortium. Levy T, et al. Hum Mol Genet. 2022 Feb 21;31(4):625-637. doi: 10.1093/hmg/ddab280. Hum Mol Genet. 2022. PMID: 34559195 Free PMC article.
Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome.
Isenstein EL, Grosman HE, Guillory SB, Zhang Y, Barkley S, McLaughlin CS, Levy T, Halpern D, Siper PM, Buxbaum JD, Kolevzon A, Foss-Feig JH. Isenstein EL, et al. Among authors: levy t. Front Neurosci. 2022 May 3;16:815933. doi: 10.3389/fnins.2022.815933. eCollection 2022. Front Neurosci. 2022. PMID: 35592263 Free PMC article.
432 results