Below are the most recent publications written about "Mutation" by people in Profiles.
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Schlick T, Sundberg EJ, Schroeder SJ, Babu MM. Biophysicists' outstanding response to Covid-19. Biophys J. 2021 03 16; 120(6):E1-E2.
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Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15.
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Valero C, Lee M, Hoen D, Wang J, Nadeem Z, Patel N, Postow MA, Shoushtari AN, Plitas G, Balachandran VP, Smith JJ, Crago AM, Long Roche KC, Kelly DW, Samstein RM, Rana S, Ganly I, Wong RJ, Hakimi AA, Berger MF, Zehir A, Solit DB, Ladanyi M, Riaz N, Chan TA, Seshan VE, Morris LGT. The association between tumor mutational burden and prognosis is dependent on treatment context. Nat Genet. 2021 01; 53(1):11-15.
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Cooper SE, Schwartzentruber J, Bello E, Coomber EL, Bassett AR. Screening for functional transcriptional and splicing regulatory variants with GenIE. Nucleic Acids Res. 2020 12 16; 48(22):e131.
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Li S, Gordon WC, Bazan NG, Jin M. Inverse correlation between fatty acid transport protein 4 and vision in Leber congenital amaurosis associated with RPE65 mutation. Proc Natl Acad Sci U S A. 2020 12 15; 117(50):32114-32123.
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Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG. Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. Neuron. 2021 01 20; 109(2):241-256.e9.
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Subbiah V, Shen T, Terzyan SS, Liu X, Hu X, Patel KP, Hu M, Cabanillas M, Behrang A, Meric-Bernstam F, Vo PTT, Mooers BHM, Wu J. Structural basis of acquired resistance to selpercatinib and pralsetinib mediated by non-gatekeeper RET mutations. Ann Oncol. 2021 02; 32(2):261-268.
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Genc AM, Makia MS, Sinha T, Conley SM, Al-Ubaidi MR, Naash MI. Retbindin: A riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneration. Int J Mol Sci. 2020 Oct 29; 21(21).
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Vuong HG, Nguyen TQ, Ngo TNM, Nguyen HC, Fung KM, Dunn IF. The interaction between TERT promoter mutation and MGMT promoter methylation on overall survival of glioma patients: a meta-analysis. BMC Cancer. 2020 Sep 21; 20(1):897.
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Zhu F, Deng J, Chen H, Liu P, Zheng L, Ye Q, Li R, Brault M, Wen J, Frugier F, Dong J, Wang T. A CEP Peptide Receptor-Like Kinase Regulates Auxin Biosynthesis and Ethylene Signaling to Coordinate Root Growth and Symbiotic Nodulation in Medicago truncatula. Plant Cell. 2020 09; 32(9):2855-2877.