 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 |
|---|
| 1996 | 0 | 1 | 1 | | 1997 | 0 | 1 | 1 | | 1998 | 0 | 2 | 2 | | 2000 | 0 | 1 | 1 | | 2002 | 0 | 2 | 2 | | 2003 | 0 | 6 | 6 | | 2004 | 0 | 2 | 2 | | 2006 | 1 | 4 | 5 | | 2007 | 0 | 2 | 2 | | 2008 | 0 | 3 | 3 | | 2009 | 0 | 4 | 4 | | 2010 | 0 | 2 | 2 | | 2011 | 0 | 2 | 2 | | 2013 | 0 | 1 | 1 | | 2014 | 1 | 2 | 3 | | 2015 | 1 | 3 | 4 | | 2016 | 1 | 1 | 2 | | 2017 | 0 | 3 | 3 | | 2019 | 0 | 2 | 2 | | 2020 | 0 | 1 | 1 | | 2021 | 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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Hanson J, Brezavar D, Hughes S, Amudhavalli S, Fleming E, Zhou D, Alaimo JT, Bonnen PE. TAB2 variants cause cardiovascular heart disease, connective tissue disorder, and developmental delay. Clin Genet. 2022 02; 101(2):214-220.
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Yan K, Rousseau J, Machol K, Cross LA, Agre KE, Gibson CF, Goverde A, Engleman KL, Verdin H, De Baere E, Potocki L, Zhou D, Cadieux-Dion M, Bellus GA, Wagner MD, Hale RJ, Esber N, Riley AF, Solomon BD, Cho MT, McWalter K, Eyal R, Hainlen MK, Mendelsohn BA, Porter HM, Lanpher BC, Lewis AM, Savatt J, Thiffault I, Callewaert B, Campeau PM, Yang XJ. Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer. Sci Adv. 2020 01; 6(4):eaax0021.
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Patak J, Gilfert J, Byler M, Neerukonda V, Thiffault I, Cross L, Amudhavalli S, Pacio-Miguez M, Palomares-Bralo M, Garcia-Minaur S, Santos-Simarro F, Powis Z, Alcaraz W, Tang S, Jurgens J, Barry B, England E, Engle E, Hess J, Lebel RR. MAGEL2-related disorders: A study and case series. Clin Genet. 2019 12; 96(6):493-505.
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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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Ahmed AA, Skaria P, Safina NP, Thiffault I, Kats A, Taboada E, Habeebu S, Saunders C. Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies. Am J Med Genet A. 2018 02; 176(2):359-367.
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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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Gui H, Schriemer D, Cheng WW, Chauhan RK, Antinolo G, Berrios C, Bleda M, Brooks AS, Brouwer RW, Burns AJ, Cherny SS, Dopazo J, Eggen BJ, Griseri P, Jalloh B, Le TL, Lui VC, Luz?n-Toro B, Matera I, Ngan ES, Pelet A, Ruiz-Ferrer M, Sham PC, Shepherd IT, So MT, Sribudiani Y, Tang CS, van den Hout MC, van der Linde HC, van Ham TJ, van IJcken WF, Verheij JB, Amiel J, Borrego S, Ceccherini I, Chakravarti A, Lyonnet S, Tam PK, Garcia-Barcel? MM, Hofstra RM. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome Biol. 2017 03 08; 18(1):48.
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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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