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Variation in the miRNA-433 binding site of FGF20 confers risk for Parkinson disease by overexpression of alpha-synuclein.
Parkinson disease (PD) is a common neurodegenerative disorder caused by environmental and genetic factors. We have previously shown linkage of PD to chromosome 8p. Subsequently, fibroblast growthExpand
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A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye′s ability to focus light, which is an important cause of visual impairment (when aberrant) and is aExpand
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Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.
Only Apolipoprotein E polymorphisms have been consistently associated with the risk of late-onset Alzheimer disease (LOAD), but they represent only a minority of the underlying genetic effect. ToExpand
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Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.
The molecular basis for the majority of cases of autism spectrum disorders (ASD) remains unknown. We tested the hypothesis that ASD have an epigenetic cause by performing DNA methylation profiling ofExpand
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Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism.
BACKGROUND Parkinson disease (PD) is characterized by loss of dopaminergic neurons in the substantia nigra. Genes contributing to rare mendelian forms of PD have been identified, but the genesExpand
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Comparative analyses of seven algorithms for copy number variant identification from single nucleotide polymorphism arrays
Determination of copy number variants (CNVs) inferred in genome wide single nucleotide polymorphism arrays has shown increasing utility in genetic variant disease associations. Several CNV detectionExpand
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Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort.
PURPOSE Evidence from human myopia genetic mapping studies (MYP3 locus), modulated animal models, and observations of glycemic control in humans suggests that insulin-like growth factor (IGF)-1 playsExpand
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Standardizing global gene expression analysis between laboratories and across platforms
To facilitate collaborative research efforts between multi-investigator teams using DNA microarrays, we identified sources of error and data variability between laboratories and across microarrayExpand
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Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases
We previously reported a linkage region on chromosome 10q for age-at-onset (AAO) of Alzheimer (AD) and Parkinson (PD) diseases. Glutathione S-transferase, omega-1 (GSTO1) and the adjacent gene GSTO2,Expand
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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy
The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial cornealExpand
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