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Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: fitch e. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K, Xian J, Helbig KL, Galer PD, Parthasarathy S, Lewis-Smith D, Kaufman MC, Fitch E, Ganesan S, O'Brien M, Codoni V, Ellis CA, Conway LJ, Taylor D, Krause R, Helbig I. Crawford K, et al. Among authors: fitch e. Genet Med. 2021 Jul;23(7):1263-1272. doi: 10.1038/s41436-021-01120-1. Epub 2021 Mar 17. Genet Med. 2021. PMID: 33731876 Free PMC article.
Delineating clinical and developmental outcomes in STXBP1-related disorders.
Xian J, Thalwitzer KM, McKee J, Sullivan KR, Brimble E, Fitch E, Toib J, Kaufman MC, deCampo D, Cunningham K, Pierce SR, Goss J, Rigby CS, Syrbe S, Boland M, Prosser B, Fitter N, Ruggiero SM, Helbig I. Xian J, et al. Among authors: fitch e. Brain. 2023 Dec 1;146(12):5182-5197. doi: 10.1093/brain/awad287. Brain. 2023. PMID: 38015929 Free PMC article.
Adapting a health facility HIV stigma-reduction participatory training intervention to address drug use stigma in HIV care and treatment clinics in Dar es Salaam, Tanzania.
Mlunde LB, Saalim K, Mbwambo JK, Kiwia P, Fitch E, Manyama W, Rugemalila I, Clay S, Lambdin BH, Stelmach RD, Bann C, Nyblade L. Mlunde LB, et al. Among authors: fitch e. Harm Reduct J. 2024 Mar 15;21(1):65. doi: 10.1186/s12954-024-00965-4. Harm Reduct J. 2024. PMID: 38491349 Free PMC article.
49 results