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98 results

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Page 1
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Kovalenko M, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Mouro Pinto R, Gusella JF. McLean ZL, et al. Among authors: morini e. Nat Commun. 2024 Apr 12;15(1):3182. doi: 10.1038/s41467-024-47485-0. Nat Commun. 2024. PMID: 38609352 Free PMC article.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. Gao D, et al. Among authors: morini e. Nat Commun. 2021 Jun 7;12(1):3332. doi: 10.1038/s41467-021-23663-2. Nat Commun. 2021. PMID: 34099697 Free PMC article.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: morini e. Am J Hum Genet. 2022 Oct 6;109(10):1789-1813. doi: 10.1016/j.ajhg.2022.08.012. Epub 2022 Sep 23. Am J Hum Genet. 2022. PMID: 36152629 Free PMC article.
PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.
McLean ZL, Gao D, Correia K, Roy JCL, Shibata S, Farnum IN, Valdepenas-Mellor Z, Rapuru M, Morini E, Ruliera J, Gillis T, Lucente D, Kleinstiver BP, Lee JM, MacDonald ME, Wheeler VC, Pinto RM, Gusella JF. McLean ZL, et al. Among authors: morini e. bioRxiv [Preprint]. 2023 Jul 27:2023.07.25.550489. doi: 10.1101/2023.07.25.550489. bioRxiv. 2023. Update in: Nat Commun. 2024 Apr 12;15(1):3182. doi: 10.1038/s41467-024-47485-0 PMID: 37547003 Free PMC article. Updated. Preprint.
ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.
Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA. Morini E, et al. Am J Hum Genet. 2019 Apr 4;104(4):638-650. doi: 10.1016/j.ajhg.2019.02.009. Epub 2019 Mar 21. Am J Hum Genet. 2019. PMID: 30905397 Free PMC article.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
Morini E, Gao D, Logan EM, Salani M, Krauson AJ, Chekuri A, Chen YT, Ragavendran A, Chakravarty P, Erdin S, Stortchevoi A, Svejstrup JQ, Talkowski ME, Slaugenhaupt SA. Morini E, et al. J Genet Genomics. 2022 Jul;49(7):654-665. doi: 10.1016/j.jgg.2021.11.011. Epub 2021 Dec 9. J Genet Genomics. 2022. PMID: 34896608 Free PMC article.
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt S. Harripaul R, et al. Among authors: morini e. Sci Rep. 2024 Jan 4;14(1):570. doi: 10.1038/s41598-023-51137-6. Sci Rep. 2024. PMID: 38177237 Free PMC article.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Among authors: morini e. Am J Hum Genet. 2024 Mar 7;111(3):619. doi: 10.1016/j.ajhg.2024.02.006. Am J Hum Genet. 2024. PMID: 38458168 Free PMC article. No abstract available.
Author Correction: Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R, Morini E, Salani M, Logan E, Kirchner E, Bolduc J, Chekuri A, Currall B, Yadav R, Erdin S, Talkowski ME, Gao D, Slaugenhaupt S. Harripaul R, et al. Among authors: morini e. Sci Rep. 2024 May 2;14(1):10103. doi: 10.1038/s41598-024-60576-8. Sci Rep. 2024. PMID: 38698036 Free PMC article. No abstract available.
98 results