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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M, Dickson A, Miller MJ, Spector E, Enns GM, Baudet H, Pasquali M, Racacho L, Sadre-Bazzaz K, Wen T, Fogarty M, Fernandez R, Weaver MA, Feigenbaum A, Graham BH, Mao R. Flowers M, et al. Among authors: spector e. Mol Genet Metab. 2023 Nov;140(3):107668. doi: 10.1016/j.ymgme.2023.107668. Epub 2023 Jul 26. Mol Genet Metab. 2023. PMID: 37549443
[1-11C]-Butanol Positron Emission Tomography reveals an impaired brain to nasal turbinates pathway in aging amyloid positive subjects.
Mehta NH, Wang X, Keil SA, Xi K, Zhou L, Lee K, Tan W, Spector E, Goldan A, Kelly J, Karakatsanis NA, Mozley PD, Nehmeh S, Chazen JL, Morin S, Babich J, Ivanidze J, Pahlajani S, Tanzi EB, Saint-Louis L, Butler T, Chen K, Rusinek H, Carare RO, Li Y, Chiang GC, de Leon MJ. Mehta NH, et al. Among authors: spector e. Fluids Barriers CNS. 2024 Apr 2;21(1):30. doi: 10.1186/s12987-024-00530-y. Fluids Barriers CNS. 2024. PMID: 38566110 Free PMC article.
Routes of Drug Use Among Drug Overdose Deaths - United States, 2020-2022.
Tanz LJ, Gladden RM, Dinwiddie AT, Miller KD, Broz D, Spector E, O'Donnell J. Tanz LJ, et al. Among authors: spector e. MMWR Morb Mortal Wkly Rep. 2024 Feb 15;73(6):124-130. doi: 10.15585/mmwr.mm7306a2. MMWR Morb Mortal Wkly Rep. 2024. PMID: 38358969 Free PMC article.
The role of health system penetration rate in estimating the prevalence of type 1 diabetes in children and adolescents using electronic health records.
Li P, Lyu T, Alkhuzam K, Spector E, Donahoo WT, Bost S, Wu Y, Hogan WR, Prosperi M, Schatz DA, Atkinson MA, Haller MJ, Shenkman EA, Guo Y, Bian J, Shao H. Li P, et al. Among authors: spector e. J Am Med Inform Assoc. 2023 Dec 22;31(1):165-173. doi: 10.1093/jamia/ocad194. J Am Med Inform Assoc. 2023. PMID: 37812771
Choroid Plexus Calcification Correlates with Cortical Microglial Activation in Humans: A Multimodal PET, CT, MRI Study.
Butler T, Wang XH, Chiang GC, Li Y, Zhou L, Xi K, Wickramasuriya N, Tanzi E, Spector E, Ozsahin I, Mao X, Razlighi QR, Fung EK, Dyke JP, Maloney T, Gupta A, Raj A, Shungu DC, Mozley PD, Rusinek H, Glodzik L. Butler T, et al. Among authors: spector e. AJNR Am J Neuroradiol. 2023 Jul;44(7):776-782. doi: 10.3174/ajnr.A7903. Epub 2023 Jun 15. AJNR Am J Neuroradiol. 2023. PMID: 37321857
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L, Dallabona C, Swanson MA, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence NV, Magistrati M, Spector EB, Kronquist K, Christensen M, Karstensen HG, Feichtinger RG, Achleitner MT, Lawrence Merritt Ii J, Pérez B, Ugarte M, Grünewald S, Riela AR, Julve N, Arnoux JB, Haldar K, Donnini C, Santer R, Lund AM, Mayr JA, Rodriguez-Pombo P, Van Hove JLK. Arribas-Carreira L, et al. Among authors: spector eb. Hum Mol Genet. 2023 Mar 6;32(6):917-933. doi: 10.1093/hmg/ddac246. Hum Mol Genet. 2023. PMID: 36190515 Free PMC article.
Syndromic Surveillance Systems for Mass Gatherings: A Scoping Review.
Spector E, Zhang Y, Guo Y, Bost S, Yang X, Prosperi M, Wu Y, Shao H, Bian J. Spector E, et al. Int J Environ Res Public Health. 2022 Apr 13;19(8):4673. doi: 10.3390/ijerph19084673. Int J Environ Res Public Health. 2022. PMID: 35457541 Free PMC article. Review.
128 results