The DOI matches its Crossref record; 174 of the 174 references it cites were found in a registry or an index.
Genetics of Nonsyndromic Orofacial Clefts
Open accessAbstract
With an average worldwide prevalence of approximately 1.2/1000 live births, orofacial clefts are the most common craniofacial birth defects in humans. Like other complex disorders, these birth defects are thought to result from the complex interplay of multiple genes and environmental factors. Significant progress in the identification of underlying genes and pathways has benefited from large populations available for study, increased international collaboration, rapid advances in genotyping technology, and major improvements in analytic approaches. Here we review recent advances in genetic epidemiological approaches to complex traits and their applications to studies of nonsyndromic orofacial clefts. Our main aim is to bring together a discussion of new and previously identified candidate genes to create a more cohesive picture of interacting pathways that shape the human craniofacial region. In future directions, we highlight the need to search for copy number variants that affect gene dosage and rare variants that are possibly associated with a higher disease penetrance. In addition, sequencing of protein-coding regions in candidate genes and screening for genetic variation in noncoding regulatory elements will help advance this important area of research.
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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
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,577
Hindorff, L. A., Sethupathy, P., Junkins, H. A., Ramos, E. M., Mehta, J. P., Collins, F. S., & Manolio, T. A. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0903103106 · Cited by 4,013
Genetic Dissection of Complex Traits
Lander, E. S., & Schork, N. J. (1994) · Science · doi:10.1126/science.8091226 · Cited by 3,413
Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
Chiang, C., Litingtung, Y., Lee, E., Young, K. E., Corden, J. L., Westphal, H., & Beachy, P. A. (1996) · Nature · doi:10.1038/383407a0 · Cited by 3,062
Human non-synonymous SNPs: server and survey
Ramensky, V. (2002) · Nucleic Acids Research · doi:10.1093/nar/gkf493 · Cited by 2,280
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030
Cleft lip and palate: understanding genetic and environmental influences
Dixon, M. J., Marazita, M. L., Beaty, T. H., & Murray, J. C. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2933 · Cited by 1,984
Self-citationExome sequencing identifies the cause of a mendelian disorder
Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957
Mossey, P. A., Little, J., Munger, R. G., Dixon, M. J., & Shaw, W. C. (2009) · The Lancet · doi:10.1016/s0140-6736(09)60695-4 · Cited by 1,764
Cited by
High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development
Wilderman, A., VanOudenhove, J., Kron, J., Noonan, J. P., & Cotney, J. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.03.129 · Cited by 139
Metadata
- Authors
- Rahimov, F., Jugessur, A., & Murray, J. C.
- Venue
- The Cleft Palate Craniofacial Journal
- Publisher
- SAGE Publications
- Published
- 2012-01
- Volume
- 49
- Issue
- 1
- Pages
- 73-91
- ISSN
- 1055-6656 (ISSN-L)
- 1545-1569
- OpenAlex
- W2375782756
- Cited by
- 295
- References
- 174
- FWCI
- 6.39
- Type
- journal article
- Language
- en
- Open access
- green
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- Rahimov, F., Jugessur, A., & Murray, J. C. (2012). Genetics of Nonsyndromic Orofacial Clefts. The Cleft Palate Craniofacial Journal. https://doi.org/10.1597/10-178
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