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This study examined chronic and short-term stress effects on heart rate variability (HRV), comparing time, frequency and phase domain (complexity) measures in 50 healthy adults. The hassles frequency subscale of the combined hassles and uplifts scale (CHUS) was used to measure chronic stress. Short-term stressor reactivity was assessed with a speech task.(More)
Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from nonconsanguineous families that showed evidence of distant shared ancestry, suggesting potentially recessive mutations. Whole-exome sequencing of(More)
Optical coherence tomography (OCT) has become an established diagnostic tool for the clinical assessment of retinal pathology but correlation of acquired signals with retinal substructures has often been ambiguous. In the monkey retina we have now obtained ultrahigh resolution (UHR) OCT images with 1.4 microm axial x 3 microm transverse resolution from(More)
This study addresses the correlation of retinal topography with factors such as the visual environment, life style, and behavior for a major mammalian group, the artiodactyls. To provide a broader basis for semiquantitative comparison, short-wavelength-sensitive (S)- and middle-to-long-wavelength-sensitive (M)-opsin cone receptor populations from 25 species(More)
In mammals, cone photoreceptor subtypes are thought to establish topographies that reflect the species-relevant properties of the visual environment. Middle- to long-wavelength-sensitive (M) cones are the dominant population and in most species they form an area centralis at the visual axis. Short-wavelength-sensitive (S) cone topographies do not always(More)
<i>Design by Contract</i> (DBC) is a programming technique to separate contract enforcement from application code. DBC provides information about the applicability of methods and helps to narrow down the search space in case of a software failure. However, most DBC implementations suffer from inflexibility: Contract enforcement can only be activated or(More)
Little is known about the dynamic characteristics of stress system activity during "life as it is lived". Using as representative a study design as possible, this investigation sought to gain insights into this area. A healthy 25-year-old woman collected her entire urine over a period of 63 days in 12-h intervals (126 measurements) to determine cortisol and(More)
Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis of mice and humans. We have identified a founder homozygous missense mutation in HOXB1 in two families from a conservative German American population. The resulting phenotype includes bilateral(More)
  • Astellas Pharma, Eli Astrazeneca, Com-Pany Lilly, F Hoffmann-La, Johnson Roche, Johnson +41 others
  • 2015
We outline an ambitious project to characterize the genetic and epigenetic regulation of multiple facets of transcription in distinct brain regions across the human lifespan in samples of major neuropsychiatric disorders and controls. Initially focused on schizophrenia and mood disorders, the goal of this consortium is to elucidate the underlying molecular(More)