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Page 1
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S, Pérez-Jurado LA, Palomares M, Rangu S, Sheppard SE, Chung WK, Kruer MC, Kharbanda M, Amor DJ, McGillivray G, Cohen JS, García-Miñaúr S, van Eyk CL, Harper K, Jolly LA, Webber DL, Barnett CP, Santos-Simarro F, Pacio-Míguez M, Pozo AD, Bakhtiari S, Deardorff M, Dubbs HA, Izumi K, Grand K, Gray C, Mark PR, Bhoj EJ, Li D, Ortiz-Gonzalez XR, Keena B, Zackai EH, Goldberg EM, Perez de Nanclares G, Pereda A, Llano-Rivas I, Arroyo I, Fernández-Cuesta MÁ, Thauvin-Robinet C, Faivre L, Garde A, Mazel B, Bruel AL, Tress ML, Brilstra E, Fine AS, Crompton KE, Stegmann APA, Sinnema M, Stevens SCJ, Nicolai J, Lesca G, Lion-François L, Haye D, Chatron N, Piton A, Nizon M, Cogne B, Srivastava S, Bassetti J, Muss C, Gripp KW, Procopio RA, Millan F, Morrow MM, Assaf M, Moreno-De-Luca A, Joss S, Hamilton MJ, Bertoli M, Foulds N, McKee S, MacLennan AH, Gecz J, Corbett MA. Kayumi S, et al. Among authors: fine as. Genet Med. 2022 Nov;24(11):2351-2366. doi: 10.1016/j.gim.2022.08.006. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083290 Free PMC article.
Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic.
Vedmurthy P, Murray C, Chen B, Asiedu A, Baranano K, Bay M, Belcher H, Burton V, Conlon C, Fine A, Gill R, Harris J, Hart K, Inches S, Johnson J, Lance E, Lipkin PH, Menon DU, McIntyre T, Rajaprakash M, Recio A, Singer HS, Smegal L, Smith-Hicks CL, Vernon H, Wilms Floet AM, Wong J, Yelin K, Leppert MLO, Zabel TA, Comi AM. Vedmurthy P, et al. Front Rehabil Sci. 2022 Oct 6;3:934558. doi: 10.3389/fresc.2022.934558. eCollection 2022. Front Rehabil Sci. 2022. PMID: 36275920 Free PMC article.
Reduction in school individualized education program (IEP) services during the COVID-19 pandemic.
Chen B, Rasmussen P, Legg M, Alexander N, Vedmurthy P, Asiedu A, Bay M, Belcher H, Burton VJ, Conlon C, Fine A, Gill R, Lance EI, Lipkin P, Wong J, Wilms Floet AM, Doerrer SC, Glattfelder J, Kordek A, Pertman J, Murray R, Zabel TA, Comi AM, Leppert ML. Chen B, et al. Front Rehabil Sci. 2022 Sep 26;3:962893. doi: 10.3389/fresc.2022.962893. eCollection 2022. Front Rehabil Sci. 2022. PMID: 36225267 Free PMC article.
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption.
Nemeth CL, Tomlinson SN, Rosen M, O'Brien BM, Larraza O, Jain M, Murray CF, Marx JS, Delannoy M, Fine AS, Wu D, Trifunovic A, Fatemi A. Nemeth CL, et al. Among authors: fine as. Exp Neurol. 2020 Apr;326:113164. doi: 10.1016/j.expneurol.2019.113164. Epub 2019 Dec 27. Exp Neurol. 2020. PMID: 31887305 Free PMC article.
Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.
Finch A, Wang M, Fine A, Atri L, Khalouei S, Pupavac M, Rosen B, Eisen A, Elser C, Charames G, Metcalfe K, Chang MC, Narod SA, Lerner-Ellis J. Finch A, et al. Clin Genet. 2016 Mar;89(3):304-11. doi: 10.1111/cge.12647. Epub 2015 Aug 31. Clin Genet. 2016. PMID: 26219728
41 results