 Alleles
"Alleles" 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.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
| Descriptor ID |
D000483
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| MeSH Number(s) |
G05.360.340.024.340.030
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| Concept/Terms |
Alleles- Alleles
- Allele
- Allelomorphs
- Allelomorph
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Below are MeSH descriptors whose meaning is more general than "Alleles".
Below are MeSH descriptors whose meaning is more specific than "Alleles".
This graph shows the total number of publications written about "Alleles" by people in this website by year, and whether "Alleles" 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 | 1 | 5 | 6 | | 1999 | 0 | 2 | 2 | | 2000 | 1 | 1 | 2 | | 2001 | 0 | 5 | 5 | | 2002 | 1 | 2 | 3 | | 2003 | 0 | 1 | 1 | | 2004 | 0 | 2 | 2 | | 2005 | 1 | 3 | 4 | | 2006 | 0 | 3 | 3 | | 2007 | 0 | 4 | 4 | | 2008 | 0 | 4 | 4 | | 2009 | 3 | 10 | 13 | | 2010 | 2 | 4 | 6 | | 2011 | 1 | 7 | 8 | | 2012 | 1 | 5 | 6 | | 2013 | 1 | 7 | 8 | | 2014 | 2 | 9 | 11 | | 2015 | 1 | 10 | 11 | | 2016 | 7 | 12 | 19 | | 2017 | 4 | 7 | 11 | | 2018 | 2 | 9 | 11 | | 2019 | 1 | 9 | 10 | | 2020 | 0 | 5 | 5 | | 2021 | 2 | 15 | 17 | | 2022 | 1 | 5 | 6 | | 2023 | 0 | 3 | 3 | | 2024 | 1 | 9 | 10 | | 2025 | 2 | 2 | 4 | | 2026 | 0 | 2 | 2 |
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Below are the most recent publications written about "Alleles" by people in Profiles.
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Bennett MH, Poweleit EA, Vaughn SE, Retke B, Toren P, Strawn JR, Ramsey LB. Impact of CYP2D6 Genotype and Inhibitor Use on Risperidone Metabolism in Children: Functional Insights Into the *17 and *29 Alleles. Clin Transl Sci. 2026 Mar; 19(3):e70525.
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Watts JL, Costantino N, Husami A, Dayarathna T, Willeke L, Pe?a LDM, Seiwert E, Gilbert DL, Stottmann RW. Recessive AARS1 variants perturb human and mouse development. HGG Adv. 2026 Apr 09; 7(2):100565.
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Samarasinghe SR, Gaedigk A, Swen JJ, Guchelaar HJ, Nagaraj SH. Long-Read Sequencing Enhances Pharmacogenomic Profiling by Resolving Complex Haplotypes, Novel Star Alleles, and Structural Variants. Clin Pharmacol Ther. 2026 Feb; 119(2):536-545.
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Tibben BM, Gaedigk A, Gong L, Sangkuhl K, Whirl-Carrillo M, Relling MV, Donnelly RS, Klein TE, Caudle KE. The Clinical Pharmacogenetics Implementation Consortium's consensus-based framework for assigning allele function. Am J Hum Genet. 2025 12 04; 112(12):2842-2859.
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Mattioli F, Fri?riksd?ttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson ?, Sulem P, Halldorsson GH, Melsted P, Gu?bjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies. Genome Med. 2025 04 14; 17(1):38.
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Scheinfeldt L, Kusic D, Gaedigk A, Turner AJ, Moyer AM, Pratt VM, Kalman LV. New Resources to Identify Characterized DNA Reference Materials for Pharmacogenetic (PGx) and Human Leukocyte Antigen (HLA) Testing: The Genetic Testing Reference Material (GeT-RM) Program PGx Search Tool and GeT-RM Consolidated PGx and HLA Table. J Mol Diagn. 2025 Jun; 27(6):457-464.
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Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression. Genome Med. 2024 Dec 18; 16(1):146.
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Zubiaur P, Rodr?guez-Antona C, Boone EC, Daly AK, Tsermpini EE, Khasawneh LQ, Sangkuhl K, Duconge J, Botton MR, Savieo J, Nofziger C, Whirl-Carrillo M, Klein TE, Gaedigk A. PharmVar GeneFocus: CYP4F2. Clin Pharmacol Ther. 2024 Oct; 116(4):963-975.
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Langlois AWR, Chenoweth MJ, Twesigomwe D, Scantamburlo G, Whirl-Carrillo M, Sangkuhl K, Klein TE, Nofziger C, Tyndale RF, Gaedigk A. PharmVar GeneFocus: CYP2A6. Clin Pharmacol Ther. 2024 Oct; 116(4):948-962.
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Pratt VM, Cavallari LH, Fulmer ML, Gaedigk A, Hachad H, Ji Y, Kalman LV, Ly RC, Moyer AM, Scott SA, Turner AJ, van Schaik RHN, Whirl-Carrillo M, Weck KE. DPYD Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium. J Mol Diagn. 2024 10; 26(10):851-863.
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