 Genetic Association Studies
"Genetic Association Studies" 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.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
| Descriptor ID |
D056726
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| MeSH Number(s) |
E05.393.385
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| Concept/Terms |
Genetic Association Studies- Genetic Association Studies
- Association Studies, Genetic
- Association Study, Genetic
- Genetic Association Study
- Studies, Genetic Association
- Study, Genetic Association
Genotype-Phenotype Associations- Genotype-Phenotype Associations
- Association, Genotype-Phenotype
- Associations, Genotype-Phenotype
- Genotype Phenotype Associations
- Genotype-Phenotype Correlation
- Genotype Phenotype Correlation
- Genotype-Phenotype Correlations
- Correlation, Genotype-Phenotype
- Correlations, Genotype-Phenotype
- Genotype Phenotype Correlations
- Genotype-Phenotype Association
- Genotype Phenotype Association
Candidate Gene Analysis- Candidate Gene Analysis
- Analyses, Candidate Gene
- Analysis, Candidate Gene
- Candidate Gene Analyses
- Gene Analyses, Candidate
- Gene Analysis, Candidate
Candidate Gene Identification- Candidate Gene Identification
- Gene Identification, Candidate
- Identification, Candidate Gene
- Candidate Gene Association Study
- Gene Discovery
- Discovery, Gene
- Candidate Gene Association Studies
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Below are MeSH descriptors whose meaning is more general than "Genetic Association Studies".
Below are MeSH descriptors whose meaning is more specific than "Genetic Association Studies".
This graph shows the total number of publications written about "Genetic Association Studies" by people in this website by year, and whether "Genetic Association Studies" 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 |
|---|
| 2009 | 0 | 1 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 0 | 2 | 2 | | 2012 | 0 | 5 | 5 | | 2013 | 2 | 4 | 6 | | 2014 | 0 | 2 | 2 | | 2015 | 2 | 6 | 8 | | 2016 | 4 | 7 | 11 | | 2017 | 2 | 1 | 3 | | 2018 | 1 | 4 | 5 | | 2019 | 1 | 7 | 8 | | 2020 | 2 | 5 | 7 | | 2021 | 3 | 6 | 9 | | 2022 | 0 | 1 | 1 | | 2024 | 1 | 2 | 3 | | 2025 | 0 | 1 | 1 |
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Below are the most recent publications written about "Genetic Association Studies" by people in Profiles.
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Rush ET, Del Angel G, Dong J, Bates T, Steiner RD, Cox A. Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States. Mol Genet Metab. 2025 Mar; 144(3):109046.
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Perrier S, Macintosh J, Misiaszek AD, Lambert G, Guerrero K, Tran LT, M?ller CW, Pastinen T, Maegawa GHB, Thiffault I, Bernard G. Novel Pathogenic Variants in POLR3K Cause POLR3-Related Leukodystrophy. Hum Mutat. 2024; 2024:8807171.
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Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO, Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, W?nsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53.
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Furia F, Levy AM, Theunis M, Bamshad MJ, Bartos MN, Bijlsma EK, Brancati F, Cejudo L, Chong JX, De Luca C, Dean SJ, Egense A, Goel H, Guenzel AJ, H?ffmeier U, Legius E, Mancini GMS, Marcos-Alcalde I, Niclass T, Planes M, Redon S, Ros-Pardo D, Rouault K, Schot R, Schuhmann S, Shen JJ, Tao AM, Thiffault I, Van Esch H, Wentzensen IM, Barakat TS, M?ller RS, Gomez-Puertas P, Chung WK, Gardella E, T?mer Z. The phenotypic and genotypic spectrum of individuals with mono- or biallelic ANK3 variants. Clin Genet. 2024 Nov; 106(5):574-584.
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Amadori E, Pellino G, Bansal L, Mazzone S, M?ller RS, Rubboli G, Striano P, Russo A. Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy. Eur J Med Genet. 2022 Apr; 65(4):104450.
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Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med. 2022 03; 24(3):631-644.
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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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Sharma S, Repnikova E, Noel-MacDonnell JR, LePichon JB. Diagnostic yield of genetic testing in 324 infants with hypotonia. Clin Genet. 2021 12; 100(6):752-757.
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Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, M Amudhavalli S, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E, Cao Y. Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly. Clin Genet. 2021 10; 100(4):386-395.
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Singh R, Cohen ASA, Poulton C, Hjortsh?j TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. Cold Spring Harb Mol Case Stud. 2021 06; 7(3).
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