Below are the most recent publications written about "DNA Mutational Analysis" by people in Profiles.
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Ardhanari M, Colin A, Tekin M, Infante JC, Swaminathan S. Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation. World J Pediatr Congenit Heart Surg. 2020 07; 11(4):NP498-NP500.
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Ramírez-Bello J, Sun C, Valencia-Pacheco G, Singh B, Barbosa-Cobos RE, Saavedra MA, López-Villanueva RF, Nath SK. ITGAM is a risk factor to systemic lupus erythematosus and possibly a protection factor to rheumatoid arthritis in patients from Mexico. PLoS One. 2019; 14(11):e0224543.
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Prendergast EN, Holman LL, Liu AY, Lai TS, Campos MP, Fahey JN, Wang X, Abdelaal N, Rao JY, Elvin JA, Moore KM, Konecny GE, Cohen JG. Comprehensive genomic profiling of recurrent endometrial cancer: Implications for selection of systemic therapy. Gynecol Oncol. 2019 09; 154(3):461-466.
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Wade KR, Lawrence SL, Farrand AJ, Hotze EM, Kuiper MJ, Gorman MA, Christie MP, Panjikar S, Morton CJ, Parker MW, Tweten RK. The Structural Basis for a Transition State That Regulates Pore Formation in a Bacterial Toxin. mBio. 2019 04 23; 10(2).
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Debeljak M, Noë M, Riel SL, Haley LM, Norris AL, Anderson DA, Adams EM, Suenaga M, Beierl KF, Lin MT, Goggins MG, Gocke CD, Eshleman JR. Validation Strategy for Ultrasensitive Mutation Detection. Mol Diagn Ther. 2018 10; 22(5):603-611.
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Jamshidi F, Place EM, Mehrotra S, Navarro-Gomez D, Maher M, Branham KE, Valkanas E, Cherry TJ, Lek M, MacArthur D, Pierce EA, Bujakowska KM. Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration. Genet Med. 2019 03; 21(3):694-704.
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Labgaa I, Villacorta-Martin C, D'Avola D, Craig AJ, von Felden J, Martins-Filho SN, Sia D, Stueck A, Ward SC, Fiel MI, Mahajan M, Tabrizian P, Thung SN, Ang C, Friedman SL, Llovet JM, Schwartz M, Villanueva A. A pilot study of ultra-deep targeted sequencing of plasma DNA identifies driver mutations in hepatocellular carcinoma. Oncogene. 2018 07; 37(27):3740-3752.
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Bastarache L, Hughey JJ, Hebbring S, Marlo J, Zhao W, Ho WT, Van Driest SL, McGregor TL, Mosley JD, Wells QS, Temple M, Ramirez AH, Carroll R, Osterman T, Edwards T, Ruderfer D, Velez Edwards DR, Hamid R, Cogan J, Glazer A, Wei WQ, Feng Q, Brilliant M, Zhao ZJ, Cox NJ, Roden DM, Denny JC. Phenotype risk scores identify patients with unrecognized Mendelian disease patterns. Science. 2018 03 16; 359(6381):1233-1239.
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Zhou A, Lau R, Baran R, Ma J, von Netzer F, Shi W, Gorman-Lewis D, Kempher ML, He Z, Qin Y, Shi Z, Zane GM, Wu L, Bowen BP, Northen TR, Hillesland KL, Stahl DA, Wall JD, Arkin AP, Zhou J. Key Metabolites and Mechanistic Changes for Salt Tolerance in an Experimentally Evolved Sulfate-Reducing Bacterium, Desulfovibrio vulgaris. mBio. 2017 11 14; 8(6).
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Talsania M, Sharma R, Sughrue ME, Scofield RH, Lim J. Familial Pallister-Hall in adulthood. Neuro Endocrinol Lett. 2017 Oct; 38(5):329-331.