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Natural history of a mouse model of X-linked myotubular myopathy.
Sarikaya E, Sabha N, Volpatti J, Pannia E, Maani N, Gonorazky HD, Celik A, Liang Y, Onofre-Oliveira P, Dowling JJ. Sarikaya E, et al. Among authors: dowling jj. Dis Model Mech. 2022 Jul 1;15(7):dmm049342. doi: 10.1242/dmm.049342. Epub 2022 Jul 25. Dis Model Mech. 2022. PMID: 35694952 Free PMC article.
Conditional knockout of pik3c3 causes a murine muscular dystrophy.
Reifler A, Li X, Archambeau AJ, McDade JR, Sabha N, Michele DE, Dowling JJ. Reifler A, et al. Among authors: dowling jj. Am J Pathol. 2014 Jun;184(6):1819-30. doi: 10.1016/j.ajpath.2014.02.012. Epub 2014 Apr 13. Am J Pathol. 2014. PMID: 24726497 Free PMC article.
Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.
Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD. Wojtal D, et al. Among authors: dowling jj. Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10. Am J Hum Genet. 2016. PMID: 26686765 Free PMC article.
RNAseq analysis for the diagnosis of muscular dystrophy.
Gonorazky H, Liang M, Cummings B, Lek M, Micallef J, Hawkins C, Basran R, Cohn R, Wilson MD, MacArthur D, Marshall CR, Ray PN, Dowling JJ. Gonorazky H, et al. Among authors: dowling jj. Ann Clin Transl Neurol. 2015 Dec 8;3(1):55-60. doi: 10.1002/acn3.267. eCollection 2016 Jan. Ann Clin Transl Neurol. 2015. PMID: 26783550 Free PMC article.
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium; Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG. Cummings BB, et al. Among authors: dowling jj. Sci Transl Med. 2017 Apr 19;9(386):eaal5209. doi: 10.1126/scitranslmed.aal5209. Sci Transl Med. 2017. PMID: 28424332 Free PMC article.
196 results