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1.  Validity of covering-up sun-protection habits: Association of observations and self-report 
Background
Few studies have reported the accuracy of measures used to assess sun-protection practices. Valid measures are critical to the internal validity and use of skin cancer control research.
Objectives
We sought to validate self-reported covering-up practices of pool-goers.
Methods
A total of 162 lifeguards and 201 parent/child pairs from 16 pools in 4 metropolitan regions in the United States completed a survey and a 4-day sun-habits diary. Observations of sun-protective behaviors were conducted on two occasions.
Results
Agreement between observations and diaries ranged from slight to substantial, with most values in the fair to moderate range. Highest agreement was observed for parent hat use (κ = 0.58–0.70). There was no systematic pattern of over- or under-reporting among the 3 study groups.
Limitations
Potential reactivity and a relatively affluent sample are limitations.
Conclusion
There was little over-reporting and no systematic bias, which increases confidence in reliance on verbal reports of these behaviors in surveys and intervention research.
doi:10.1016/j.jaad.2008.12.015
PMCID: PMC3715114  PMID: 19278750
concurrent validity; measurement; observation; self-report assessment; sun protection
2.  Identification of 11 Novel Mutations in 8 BBS Genes by High-Resolution Homozygosity Mapping 
Journal of medical genetics  2009;47(4):262-267.
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterized by the five cardinal features retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity and hypogenitalism. In addition, renal cysts and other anomalies of the kidney and urinary tract can be present. To date, mutations in 12 BBS genes as well as in MKS1 and CEP290 have been identified as causing BBS. The vast genetic heterogeneity of BBS renders molecular genetic diagnosis difficult in terms of both the time and cost required to screen all 204 coding exons. Here, we report the use of genome-wide homozygosity mapping as a tool to identify homozygous segments at known BBS loci in BBS individuals from inbred and outbred background. In a worldwide cohort of 45 families, we identified, via direct exon sequencing, causative homozygous mutations in 20 families. Eleven of these mutations were novel, thereby increasing the number of known BBS mutations by 5% (11/218). Thus, in the presence of extreme genetic locus heterogeneity, homozygosity mapping provides a valuable approach to the molecular genetic diagnosis of BBS and will facilitate the discovery of novel pathogenic mutations.
doi:10.1136/jmg.2009.071365
PMCID: PMC3017466  PMID: 19797195
Molecular Genetics
3.  The Vertebrate Primary Cilium in Development, Homeostasis, and Disease 
Cell  2009;137(1):32-45.
Cilia are complex structures that have garnered interest because of their roles in vertebrate development and their involvement in human genetic disorders. In contrast to multicellular invertebrates in which cilia are restricted to specific cell types, these organelles are found almost ubiquitously in vertebrate cells, where they serve a diverse set of signaling functions. Here, we highlight properties of vertebrate cilia, with particular emphasis on their relationship with other subcellular structures, and explore the physiological consequences of ciliary dysfunction.
doi:10.1016/j.cell.2009.03.023
PMCID: PMC3016012  PMID: 19345185
4.  A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies 
Nature genetics  2009;41(6):739-745.
Despite rapid advances in disease gene identification, the predictive power of the genotype remains limited, in part due to poorly understood effects of second-site modifiers. Here we demonstrate that a polymorphic coding variant of RPGRIP1L (retinitis pigmentosa GTPase regulator-interacting protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is associated with the development of retinal degeneration in patients with ciliopathies caused by mutations in other genes. As part of our resequencing efforts of the ciliary proteome, we identified several putative loss of function RPGRIP1L mutations, including one common variant, A229T. Multiple genetic lines of evidence showed this allele to be associated with photoreceptor loss in ciliopathies. Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the 229T-encoded protein significantly compromises this interaction. Our data represent an example of modification of a discrete phenotype of syndromic disease and highlight the importance of a multifaceted approach for the discovery of modifier alleles of intermediate frequency and effect.
doi:10.1038/ng.366
PMCID: PMC2783476  PMID: 19430481

Results 1-4 (4)