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Year Number of Results
2009 1
2011 1
2012 2
2013 3
2014 4
2015 1
2017 4
2018 1
2022 1
2023 2
2024 0

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18 results

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Page 1
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Ceyhan-Birsoy O, et al. Among authors: soemedi r. Neurology. 2013 Oct 1;81(14):1205-14. doi: 10.1212/WNL.0b013e3182a6ca62. Epub 2013 Aug 23. Neurology. 2013. PMID: 23975875 Free PMC article.
Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts.
Zhang Y, Liu X, Wiggins KL, Kurniansyah N, Guo X, Rodrigue AL, Zhao W, Yanek LR, Ratliff SM, Pitsillides A, Aguirre Patiño JS, Sofer T, Arking DE, Austin TR, Beiser AS, Blangero J, Boerwinkle E, Bressler J, Curran JE, Hou L, Hughes TM, Kardia SLR, Launer LJ, Levy D, Mosley TH, Nasrallah IM, Rich SS, Rotter JI, Seshadri S, Tarraf W, González KA, Ramachandran V, Yaffe K, Nyquist PA, Psaty BM, DeCarli CS, Smith JA, Glahn DC, González HM, Bis JC, Fornage M, Heckbert SR, Fitzpatrick AL, Liu C, Satizabal CL; NHLBI Trans-Omics for Precision Medicine (TOPMed) program, Mitochondrial and Neurocognitive Working Groups. Zhang Y, et al. Neurology. 2023 May 2;100(18):e1930-e1943. doi: 10.1212/WNL.0000000000207157. Epub 2023 Mar 16. Neurology. 2023. PMID: 36927883 Free PMC article.
The effects of structure on pre-mRNA processing and stability.
Soemedi R, Cygan KJ, Rhine CL, Glidden DT, Taggart AJ, Lin CL, Fredericks AM, Fairbrother WG. Soemedi R, et al. Methods. 2017 Aug 1;125:36-44. doi: 10.1016/j.ymeth.2017.06.001. Epub 2017 Jun 6. Methods. 2017. PMID: 28595983 Free PMC article. Review.
The debranching enzyme Dbr1 regulates lariat turnover and intron splicing.
Buerer L, Clark NE, Welch A, Duan C, Taggart AJ, Townley BA, Wang J, Soemedi R, Rong S, Lin CL, Zeng Y, Katolik A, Staley JP, Damha MJ, Mosammaparast N, Fairbrother WG. Buerer L, et al. Among authors: soemedi r. Res Sq [Preprint]. 2023 Jun 13:rs.3.rs-2931976. doi: 10.21203/rs.3.rs-2931976/v1. Res Sq. 2023. PMID: 37398028 Free PMC article. Preprint.
Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study.
Wang H, Kurniansyah N, Cade BE, Goodman MO, Chen H, Gottlieb DJ, Gharib SA, Purcell SM, Lin X, Saxena R, Zhu X, Durda P, Tracy R, Liu Y, Taylor KD, Johnson WC, Gabriel S, Smith JD, Aguet F, Ardlie K, Blackwell T, Reiner AP, Rotter JI, Rich SS; TOPMed Sleep Traits Working Group; Redline S, Sofer T. Wang H, et al. Sci Rep. 2022 Jan 27;12(1):1472. doi: 10.1038/s41598-022-05415-4. Sci Rep. 2022. PMID: 35087136 Free PMC article.
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R, Cygan KJ, Rhine CL, Wang J, Bulacan C, Yang J, Bayrak-Toydemir P, McDonald J, Fairbrother WG. Soemedi R, et al. Nat Genet. 2017 Jun;49(6):848-855. doi: 10.1038/ng.3837. Epub 2017 Apr 17. Nat Genet. 2017. PMID: 28416821 Free PMC article.
Hereditary cancer genes are highly susceptible to splicing mutations.
Rhine CL, Cygan KJ, Soemedi R, Maguire S, Murray MF, Monaghan SF, Fairbrother WG. Rhine CL, et al. Among authors: soemedi r. PLoS Genet. 2018 Mar 5;14(3):e1007231. doi: 10.1371/journal.pgen.1007231. eCollection 2018 Mar. PLoS Genet. 2018. PMID: 29505604 Free PMC article.
18 results