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Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.
Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, Bönnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M; Gene Therapy Workshop Faculty. Davidson BL, et al. Among authors: tifft cj. Mol Ther. 2022 Jul 6;30(7):2416-2428. doi: 10.1016/j.ymthe.2022.05.014. Epub 2022 May 17. Mol Ther. 2022. PMID: 35585789 Free PMC article. Review.
De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.
Berko ER, Cho MT, Eng C, Shao Y, Sweetser DA, Waxler J, Robin NH, Brewer F, Donkervoort S, Mohassel P, Bönnemann CG, Bialer M, Moore C, Wolfe LA, Tifft CJ, Shen Y, Retterer K, Millan F, Chung WK. Berko ER, et al. Among authors: tifft cj. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7. J Med Genet. 2017. PMID: 27389779 Free PMC article.
Novel Biomarkers of Human GM1 Gangliosidosis Reflect the Clinical Efficacy of Gene Therapy in a Feline Model.
Gray-Edwards HL, Regier DS, Shirley JL, Randle AN, Salibi N, Thomas SE, Latour YL, Johnston J, Golas G, Maguire AS, Taylor AR, Sorjonen DC, McCurdy VJ, Christopherson PW, Bradbury AM, Beyers RJ, Johnson AK, Brunson BL, Cox NR, Baker HJ, Denney TS, Sena-Esteves M, Tifft CJ, Martin DR. Gray-Edwards HL, et al. Among authors: tifft cj. Mol Ther. 2017 Apr 5;25(4):892-903. doi: 10.1016/j.ymthe.2017.01.009. Epub 2017 Feb 22. Mol Ther. 2017. PMID: 28236574 Free PMC article.
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Among authors: tifft cj. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
Author Correction: Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Among authors: tifft cj. Nat Rev Dis Primers. 2018 Oct 18;4(1):36. doi: 10.1038/s41572-018-0037-0. Nat Rev Dis Primers. 2018. PMID: 30337566
Publisher Correction: Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Among authors: tifft cj. Nat Rev Dis Primers. 2019 May 17;5(1):34. doi: 10.1038/s41572-019-0089-9. Nat Rev Dis Primers. 2019. PMID: 31101820
AAV gene therapy for Tay-Sachs disease.
Flotte TR, Cataltepe O, Puri A, Batista AR, Moser R, McKenna-Yasek D, Douthwright C, Gernoux G, Blackwood M, Mueller C, Tai PWL, Jiang X, Bateman S, Spanakis SG, Parzych J, Keeler AM, Abayazeed A, Rohatgi S, Gibson L, Finberg R, Barton BA, Vardar Z, Shazeeb MS, Gounis M, Tifft CJ, Eichler FS, Brown RH Jr, Martin DR, Gray-Edwards HL, Sena-Esteves M. Flotte TR, et al. Among authors: tifft cj. Nat Med. 2022 Feb;28(2):251-259. doi: 10.1038/s41591-021-01664-4. Epub 2022 Feb 10. Nat Med. 2022. PMID: 35145305 Free PMC article.
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD).
Pierson TM, Markello T, Accardi J, Wolfe L, Adams D, Sincan M, Tarazi NM, Fajardo KF, Cherukuri PF, Bajraktari I, Meilleur KG, Donkervoort S, Jain M, Hu Y, Lehky TJ, Cruz P, Mullikin JC, Bonnemann C, Gahl WA, Boerkoel CF, Tifft CJ. Pierson TM, et al. Among authors: tifft cj. Neuromuscul Disord. 2013 Jun;23(6):483-8. doi: 10.1016/j.nmd.2013.01.013. Epub 2013 Mar 1. Neuromuscul Disord. 2013. PMID: 23453856 Free PMC article.
213 results