 DNA Mutational Analysis
"DNA Mutational Analysis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Biochemical identification of mutational changes in a nucleotide sequence.
| Descriptor ID |
D004252
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| MeSH Number(s) |
E05.393.760.700.300
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| Concept/Terms |
DNA Mutational Analysis- DNA Mutational Analysis
- Analysis, DNA Mutational
- Analyses, DNA Mutational
- DNA Mutational Analyses
- Mutational Analyses, DNA
- Mutational Analysis, DNA
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Below are MeSH descriptors whose meaning is more general than "DNA Mutational Analysis".
Below are MeSH descriptors whose meaning is more specific than "DNA Mutational Analysis".
This graph shows the total number of publications written about "DNA Mutational Analysis" by people in this website by year, and whether "DNA Mutational Analysis" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 2 | 2 | | 2000 | 0 | 1 | 1 | | 2002 | 0 | 1 | 1 | | 2003 | 1 | 5 | 6 | | 2006 | 0 | 3 | 3 | | 2007 | 0 | 2 | 2 | | 2008 | 0 | 4 | 4 | | 2009 | 0 | 3 | 3 | | 2010 | 0 | 2 | 2 | | 2014 | 1 | 1 | 2 | | 2015 | 1 | 2 | 3 | | 2016 | 1 | 1 | 2 | | 2017 | 0 | 1 | 1 | | 2019 | 0 | 1 | 1 | | 2024 | 0 | 1 | 1 |
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Below are the most recent publications written about "DNA Mutational Analysis" by people in Profiles.
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Rael VE, Yano JA, Huizar JP, Slayden LC, Weiss MA, Turcotte EA, Terry JM, Zuo W, Thiffault I, Pastinen T, Farrow EG, Jenkins JL, Becker ML, Wong SC, Stevens AM, Otten C, Allenspach EJ, Bonner DE, Bernstein JA, Wheeler MT, Saxton RA, Liu B, Majer O, Barton GM. Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. J Exp Med. 2024 Aug 05; 221(8).
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Repnikova E, Roberts J, Mc Dermott S, Farooqi MS, Iqbal NT, Silvey M, Nolen J, Taboada E, Li W. Clinical and molecular characterization of novel deletions causing epsilon gamma delta beta thalassemia: Report of two cases. Pathol Res Pract. 2019 Oct; 215(10):152578.
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Thiffault I, Zuccarelli B, Welsh H, Yuan X, Farrow E, Zellmer L, Miller N, Soden S, Abdelmoity A, Brodsky RA, Saunders C. Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease. BMC Med Genet. 2017 11 02; 18(1):124.
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Morin A, Kwan T, Ge B, Letourneau L, Ban M, Tandre K, Caron M, Sandling JK, Carlsson J, Bourque G, Laprise C, Montpetit A, Syvanen AC, Ronnblom L, Sawcer SJ, Lathrop MG, Pastinen T. Immunoseq: the identification of functionally relevant variants through targeted capture and sequencing of active regulatory regions in human immune cells. BMC Med Genomics. 2016 09 13; 9(1):59.
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Melo FM, Couto PP, Bale AE, Bastos-Rodrigues L, Passos FM, Lisboa RG, Ng JM, Curran T, Dias EP, Friedman E, De Marco L. Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma. Cancer Genet. 2016 06; 209(6):251-7.
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Thiffault I, Farrow E, Smith L, Lowry J, Zellmer L, Black B, Abdelmoity A, Miller N, Soden S, Saunders C. PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant. Am J Med Genet A. 2016 06; 170(6):1585-9.
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Smith LD, Willig LK, Kingsmore SF. Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders. Cold Spring Harb Perspect Med. 2015 Dec 18; 6(2):a023168.
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Graw S, Meier R, Minn K, Bloomer C, Godwin AK, Fridley B, Vlad A, Beyerlein P, Chien J. Robust gene expression and mutation analyses of RNA-sequencing of formalin-fixed diagnostic tumor samples. Sci Rep. 2015 Jul 23; 5:12335.
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Cohen AS, Tuysuz B, Shen Y, Bhalla SK, Jones SJ, Gibson WT. A novel mutation in EED associated with overgrowth. J Hum Genet. 2015 Jun; 60(6):339-42.
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Soden SE, Saunders CJ, Willig LK, Farrow EG, Smith LD, Petrikin JE, LePichon JB, Miller NA, Thiffault I, Dinwiddie DL, Twist G, Noll A, Heese BA, Zellmer L, Atherton AM, Abdelmoity AT, Safina N, Nyp SS, Zuccarelli B, Larson IA, Modrcin A, Herd S, Creed M, Ye Z, Yuan X, Brodsky RA, Kingsmore SF. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 03; 6(265):265ra168.
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