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Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.
Cogné B, Latypova X, Senaratne LDS, Martin L, Koboldt DC, Kellaris G, Fievet L, Le Meur G, Caldari D, Debray D, Nizon M, Frengen E, Bowne SJ; 99 Lives Consortium; Cadena EL, Daiger SP, Bujakowska KM, Pierce EA, Gorin M, Katsanis N, Bézieau S, Petersen-Jones SM, Occelli LM, Lyons LA, Legeai-Mallet L, Sullivan LS, Davis EE, Isidor B. Cogné B, et al. Among authors: occelli lm. Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7. Am J Hum Genet. 2020. PMID: 32386558 Free PMC article.
A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.
Winkler PA, Ekenstedt KJ, Occelli LM, Frattaroli AV, Bartoe JT, Venta PJ, Petersen-Jones SM. Winkler PA, et al. Among authors: occelli lm. PLoS One. 2013 Aug 19;8(8):e72229. doi: 10.1371/journal.pone.0072229. eCollection 2013. PLoS One. 2013. PMID: 23977260 Free PMC article.
Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs.
Mowat FM, Gervais KJ, Occelli LM, Annear MJ, Querubin J, Bainbridge JW, Smith AJ, Ali RR, Petersen-Jones SM. Mowat FM, et al. Among authors: occelli lm. Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3268-3277. doi: 10.1167/iovs.17-21930. Invest Ophthalmol Vis Sci. 2017. PMID: 28662231 Free article.
Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa.
Mowat FM, Occelli LM, Bartoe JT, Gervais KJ, Bruewer AR, Querubin J, Dinculescu A, Boye SL, Hauswirth WW, Petersen-Jones SM. Mowat FM, et al. Among authors: occelli lm. Front Neurosci. 2017 Jun 20;11:342. doi: 10.3389/fnins.2017.00342. eCollection 2017. Front Neurosci. 2017. PMID: 28676737 Free PMC article.
Central retinal preservation in rdAc cats.
Minella AL, Occelli LM, Narfström K, Petersen-Jones SM. Minella AL, et al. Among authors: occelli lm. Vet Ophthalmol. 2018 May;21(3):224-232. doi: 10.1111/vop.12495. Epub 2017 Aug 30. Vet Ophthalmol. 2018. PMID: 28856832
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Schön C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH. Petersen-Jones SM, et al. Among authors: occelli lm. J Clin Invest. 2018 Jan 2;128(1):190-206. doi: 10.1172/JCI95161. Epub 2017 Nov 20. J Clin Invest. 2018. PMID: 29202463 Free PMC article.
35 results