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Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease.
Ruggieri A, Naumenko S, Smith MA, Iannibelli E, Blasevich F, Bragato C, Gibertini S, Barton K, Vorgerd M, Marcus K, Wang P, Maggi L, Mantegazza R, Dowling JJ, Kley RA, Mora M, Minassian BA. Ruggieri A, et al. Among authors: naumenko s. Acta Neuropathol. 2020 Aug;140(2):231-235. doi: 10.1007/s00401-020-02164-4. Epub 2020 May 25. Acta Neuropathol. 2020. PMID: 32451610 Free PMC article. No abstract available.
Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.
Qashqari H, Ramani A, Gonorazky H, Amburgey K, Ghahramani Seno MM, Brudno M, Naumenko S, Das S, Dowling JJ. Qashqari H, et al. Among authors: naumenko s. Neurology. 2021 Sep 20;97(12):e1253-e1256. doi: 10.1212/WNL.0000000000012265. Neurology. 2021. PMID: 34016710 Free PMC article. No abstract available.
Uniparental disomy unveils a novel recessive mutation in POMT2.
Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD. Brun BN, et al. Among authors: naumenko s. Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10. Neuromuscul Disord. 2018. PMID: 29759639 Free PMC article.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: naumenko s. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.
Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.
Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: naumenko s. Am J Hum Genet. 2019 May 2;104(5):1007. doi: 10.1016/j.ajhg.2019.04.004. Am J Hum Genet. 2019. PMID: 31051109 Free PMC article. No abstract available.
Extraordinary Genetic Diversity in a Wood Decay Mushroom.
Baranova MA, Logacheva MD, Penin AA, Seplyarskiy VB, Safonova YY, Naumenko SA, Klepikova AV, Gerasimov ES, Bazykin GA, James TY, Kondrashov AS. Baranova MA, et al. Among authors: naumenko sa. Mol Biol Evol. 2015 Oct;32(10):2775-83. doi: 10.1093/molbev/msv153. Epub 2015 Jul 10. Mol Biol Evol. 2015. PMID: 26163667 Free PMC article.
72 results