The DOI matches its Crossref record; 83 of the 83 references it cites were found in a registry or an index.
Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias
Abstract
The remarkable phenotypic diversity of the beta-thalassaemias reflects the heterogeneity of mutations at the beta-globin locus, the action of many secondary and tertiary modifiers, and a wide range of environmental factors. It is likely that phenotype-genotype relationships will be equally complex in the case of many monogenic diseases. These findings highlight the problems that might be encountered in defining the relationship between the genome and the environment in multifactorial disorders, in which the degree of heritability might be relatively low and several environmental agents are involved. They also emphasize the value of an understanding of phenotype-genotype relationships in designing approaches to gene therapy.
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“Patients affected by sickle cell anemia and β-thalassemia experience a milder course of the disease if they express elevated levels of fetal hemoglobin in adulthood (Platt et al., 1994; Weatherall, 2001).”
From Reactivation of developmentally silenced globin genes by forced chromatin looping (2014) · cites this paper as Weatherall, 2001
Citations
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Research works printed but not linked: 6
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Rees, D. C., Williams, T. N., & Gladwin, M. T. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61029-x · Cited by 2,504
Emery, A. E. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07815-7 · Cited by 1,667
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Understanding quantitative genetic variation
Barton, N., & Keightley, P. D. (2002) · Nature Reviews Genetics · doi:10.1038/nrg700 · Cited by 833
Cao, A., & Galanello, R. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181cd68ed · Cited by 722
Metadata
- Authors
- Weatherall, D. J.
- Affiliations
- John Radcliffe Hospital (GB)
- Corresponding author
- Weatherall, D. J.
- Venue
- Nature Reviews Genetics
- Published
- 2001-04
- Volume
- 2
- Issue
- 4
- Pages
- 245-255
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- OpenAlex
- W1598569053
- Cited by
- 692
- References
- 79
- Citations by year
- 2026: 13 · 2025: 17 · 2024: 27 · 2023: 32 · 2022: 16 · 2021: 31 · 2020: 27 · 2019: 28 · 2018: 39 · 2017: 32 · 2016: 33 · 2015: 29 · 2014: 26 · 2013: 35 · 2012: 26
- FWCI
- 5.59
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- genotype-phenotype correlation, beta-thalassemia, monogenic disorders, genetic modifiers, environmental factors, heritability, complex diseases, gene therapy
- MeSH terms
- Alleles, Bilirubin, Bone Diseases, Environment, Genes, Dominant, Genes, Recessive, Multigene Family, Genotype, Hemoglobins, Humans, Iron, Mutation, Phenotype, Thalassemia, Genetic Variation
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