Geoffrey J. Maher

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PURPOSE Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy affecting macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on(More)
The dominant congenital disorders Apert syndrome, achondroplasia and multiple endocrine neoplasia-caused by specific missense mutations in the FGFR2, FGFR3 and RET proteins respectively-represent classical examples of paternal age-effect mutation, a class that arises at particularly high frequencies in the sperm of older men. Previous analyses of DNA from(More)
The mechanisms leading to increased genetic risks for offspring of older fathers have received increased scrutiny with improvements in genomics technologies. For example, there is now convincing genetic evidence that, aside from the approximately linear increase in paternally originating point mutations with age (Kong et al., 2012; Rahbari et al., 2016),(More)
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