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Antisense oligonucleotide therapy for KCNT1 encephalopathy.
Burbano LE, Li M, Jancovski N, Jafar-Nejad P, Richards K, Sedo A, Soriano A, Rollo B, Jia L, Gazina EV, Piltz S, Adikusuma F, Thomas PQ, Kopsidas H, Rigo F, Reid CA, Maljevic S, Petrou S. Burbano LE, et al. Among authors: thomas pq. JCI Insight. 2022 Dec 8;7(23):e146090. doi: 10.1172/jci.insight.146090. JCI Insight. 2022. PMID: 36173683 Free PMC article.
Targeted Deletion of an Entire Chromosome Using CRISPR/Cas9.
Adikusuma F, Williams N, Grutzner F, Hughes J, Thomas P. Adikusuma F, et al. Mol Ther. 2017 Aug 2;25(8):1736-1738. doi: 10.1016/j.ymthe.2017.05.021. Epub 2017 Jun 17. Mol Ther. 2017. PMID: 28633863 Free PMC article.
Abnormal Cell Sorting Underlies the Unique X-Linked Inheritance of PCDH19 Epilepsy.
Pederick DT, Richards KL, Piltz SG, Kumar R, Mincheva-Tasheva S, Mandelstam SA, Dale RC, Scheffer IE, Gecz J, Petrou S, Hughes JN, Thomas PQ. Pederick DT, et al. Among authors: thomas pq. Neuron. 2018 Jan 3;97(1):59-66.e5. doi: 10.1016/j.neuron.2017.12.005. Neuron. 2018. PMID: 29301106 Free article.
Large deletions induced by Cas9 cleavage.
Adikusuma F, Piltz S, Corbett MA, Turvey M, McColl SR, Helbig KJ, Beard MR, Hughes J, Pomerantz RT, Thomas PQ. Adikusuma F, et al. Among authors: thomas pq. Nature. 2018 Aug;560(7717):E8-E9. doi: 10.1038/s41586-018-0380-z. Epub 2018 Aug 8. Nature. 2018. PMID: 30089922 No abstract available.
98 results