Affiliation: University of Pittsburgh
Country: USA


  1. request reprint
    Marazita M. Subclinical features in non-syndromic cleft lip with or without cleft palate (CL/P): review of the evidence that subepithelial orbicularis oris muscle defects are part of an expanded phenotype for CL/P. Orthod Craniofac Res. 2007;10:82-7 pubmed
    ..Furthermore, inclusion of OO defects in the CL/P phenotypic spectrum should improve the power of genetic studies. ..
  2. Marazita M, Lidral A, Murray J, Field L, Maher B, Goldstein McHenry T, et al. Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results. Hum Hered. 2009;68:151-70 pubmed publisher
    ..These results highlight the importance of careful phenotypic delineation in large samples of families for genetic analyses of complex, heterogeneous traits such as CL/P. ..
  3. Marazita M. The evolution of human genetic studies of cleft lip and cleft palate. Annu Rev Genomics Hum Genet. 2012;13:263-83 pubmed publisher
    ..Notably, OFC represents a major success for genome-wide approaches, and the field is poised for further breakthroughs in the near future. ..
  4. Chernus J, Roosenboom J, Ford M, Lee M, Emanuele B, Anderton J, et al. GWAS reveals loci associated with velopharyngeal dysfunction. Sci Rep. 2018;8:8470 pubmed publisher
    ..Although further research is necessary, this could be an indication for a potential shared genetic architecture between VPD and cleft palate, and supporting the hypothesis that VPD is a subclinical phenotype of orofacial clefting. ..
  5. Leslie E, Taub M, Liu H, Steinberg K, Koboldt D, Zhang Q, et al. Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci. Am J Hum Genet. 2015;96:397-411 pubmed publisher
    ..This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans. ..
  6. Leslie E, Liu H, Carlson J, Shaffer J, Feingold E, WEHBY G, et al. A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3. Am J Hum Genet. 2016;98:744-54 pubmed publisher
    ..This finding advances our understanding of the genetic basis of craniofacial development and might ultimately lead to improvements in recurrence risk prediction, treatment, and prognosis. ..
  7. Leslie E, Carlson J, Shaffer J, Feingold E, WEHBY G, Laurie C, et al. A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13. Hum Mol Genet. 2016;25:2862-2872 pubmed
    ..In summary, we have identified novel CL/P risk loci and suggest new genes involved in craniofacial development, confirming the highly heterogeneous etiology of OFCs. ..
  8. Leslie E, Carlson J, Shaffer J, Butali A, Buxó C, Castilla E, et al. Genome-wide meta-analyses of nonsyndromic orofacial clefts identify novel associations between FOXE1 and all orofacial clefts, and TP63 and cleft lip with or without cleft palate. Hum Genet. 2017;136:275-286 pubmed publisher
    ..33 × 10-9). Our results support the highly heterogeneous nature of OFCs and illustrate the utility of meta-analysis for discovering new genetic risk factors. ..
  9. Rourke R, Weinberg S, Marazita M, Jabbour N. Diagnosing subtle palatal anomalies: Validation of video-analysis and assessment protocol for diagnosing occult submucous cleft palate. Int J Pediatr Otorhinolaryngol. 2017;100:242-246 pubmed publisher
    ..The diagnosis of subtle palatal anomalies is difficult and can be subjective. Using the proposed video-analysis method and assessment protocol may improve reliability of diagnosis of OSMCP. ..