The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Genetics of cleft lip and cleft palate
Open accessAbstract
Orofacial clefts are common birth defects and can occur as isolated, nonsyndromic events or as part of Mendelian syndromes. There is substantial phenotypic diversity in individuals with these birth defects and their family members: from subclinical phenotypes to associated syndromic features that is mirrored by the many genes that contribute to the etiology of these disorders. Identification of these genes and loci has been the result of decades of research using multiple genetic approaches. Significant progress has been made recently due to advances in sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome‐wide association studies. Future progress will hinge on identifying functional variants, investigation of pathway and other interactions, and inclusion of phenotypic and ethnic diversity in studies. © 2013 Wiley Periodicals, Inc.
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Cites
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Exome 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
Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
Zanke, B. W., Greenwood, C. M., Rangrej, J., Kustra, R., Tenesa, A., Farrington, S. M., Prendergast, J., Olschwang, S., Chiang, T., Crowdy, E., et al. (2007) · Nature Genetics · doi:10.1038/ng2089 · Cited by 724
Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., et al. (2004) · Nature Genetics · doi:10.1038/ng1364 · Cited by 713
Clinical and molecular genetics of Stickler syndrome
Snead, M. P., & Yates, J. R. W. (1999) · Journal of Medical Genetics · doi:10.1136/jmg.36.5.353 · Cited by 448
Tsybovsky, Y., Molday, R. S., & Palczewski, K. (2010) · Advances in Experimental Medicine and Biology · doi:10.1007/978-1-4419-5635-4_8 · Cited by 200
Congenital hypothyroidism, spiky hair, and cleft palate.
Bamforth, J. S., Hughes, I. A., Lazarus, J. H., Weaver, C. M., & Harper, P. S. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.1.49 · Cited by 119
Cited by
CBCT in orthodontics: assessment of treatment outcomes and indications for its use
Kapila, S. D., & Nervina, J. M. (2015) · Dentomaxillofacial Radiology · doi:10.1259/dmfr.20140282 · Cited by 423
Metadata
- Authors
- Leslie, E. J., & Marazita, M. L.
- Venue
- American Journal of Medical Genetics Part C: Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2013-10-04
- Volume
- 163
- Issue
- 4
- Pages
- 246-258
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W1495903588
- Cited by
- 570
- References
- 7
- FWCI
- 15.98
- Type
- journal article
- Language
- en
- Open access
- bronze
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