The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
Open accessAbstract
We used resequencing and genotyping in African Americans with sickle cell anemia (SCA) to characterize associations with fetal hemoglobin (HbF) levels at the BCL11A, HBS1L-MYB and β-globin loci. Fine-mapping of HbF association signals at these loci confirmed seven SNPs with independent effects and increased the explained heritable variation in HbF levels from 38.6% to 49.5%. We also identified rare missense variants that causally implicate MYB in HbF production.
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Cites
Finding the missing heritability of complex diseases
Manolio, T. A., Collins, F. S., Cox, N. J., Goldstein, D. B., Hindorff, L. A., Hunter, D. J., McCarthy, M. I., Ramos, E. M., Cardon, L. R., Chakravarti, A., et al. (2009) · Nature · doi:10.1038/nature08494 · Cited by 8,336
Rare Variants of IFIH1 , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
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Human Fetal Hemoglobin Expression Is Regulated by the Developmental Stage-Specific Repressor BCL11A
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Self-citationRare Variants Create Synthetic Genome-Wide Associations
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Self-citationLettre, G., Sankaran, V. G., Bezerra, M. A. C., Araújo, A. S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F. F., Hirschhorn, J. N., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804799105 · Cited by 561
Self-citationHeritability of Cardiovascular and Personality Traits in 6,148 Sardinians
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A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
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Developmental and species-divergent globin switching are driven by BCL11A
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Cited by
Genetic Investigation of ANthropometric Traits (GIANT) Consortium, Yang, J., DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium, Ferreira, T., Morris, A. P., Medland, S. E., Madden, P. A. F., Heath, A. C., Martin, N. G., Montgomery, G. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2213 · Cited by 1,712
Self-citationEvaluating the potential role of pleiotropy in Mendelian randomization studies
Hemani, G., Bowden, J., & Davey Smith, G. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddy163 · Cited by 1,496
Initial impact of the sequencing of the human genome
Lander, E. S. (2011) · Nature · doi:10.1038/nature09792 · Cited by 1,044
Spanish Consortium on the Genetics of Coeliac Disease (CEGEC), Trynka, G., PreventCD Study Group, Wellcome Trust Case Control Consortium (WTCCC), Hunt, K. A., Bockett, N. A., Romanos, J., Mistry, V., Szperl, A., Bakker, S. F., et al. (2011) · Nature Genetics · doi:10.1038/ng.998 · Cited by 832
An Erythroid Enhancer of BCL11A Subject to Genetic Variation Determines Fetal Hemoglobin Level
Bauer, D. E., Kamran, S. C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., Shao, Z., Canver, M. C., Smith, E. C., Pinello, L., et al. (2013) · Science · doi:10.1126/science.1242088 · Cited by 653
Self-citation
Metadata
- Authors
- Galarneau, G., Palmer, C. D., Sankaran, V. G., Orkin, S. H., Hirschhorn, J. N., & Lettre, G.
- Venue
- Nature Genetics
- Published
- 2010-11-07
- Volume
- 42
- Issue
- 12
- Pages
- 1049-1051
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2005898133
- Cited by
- 269
- References
- 14
- FWCI
- 8.03
- Type
- journal article
- Language
- en
- Open access
- green
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