Browsing by Author "Ashley-Koch, Allison E"
Now showing items 1-9 of 9
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A Genocentric Approach to Discovery of Mendelian Disorders.
(American journal of human genetics, 2019-11)The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic ... -
An epigenome-wide association study of posttraumatic stress disorder in US veterans implicates several new DNA methylation loci.
(Clinical epigenetics, 2020-03)<h4>Background</h4>Previous studies using candidate gene and genome-wide approaches have identified epigenetic changes in DNA methylation (DNAm) associated with posttraumatic stress disorder (PTSD).<h4>Methods</h4>In this ... -
Gene Expression Analysis in Three Posttraumatic Stress Disorder Cohorts Implicates Inflammation and Innate Immunity Pathways and Uncovers Shared Genetic Risk With Major Depressive Disorder.
(Frontiers in neuroscience, 2021-01)Posttraumatic stress disorder (PTSD) is a complex psychiatric disorder that can develop following exposure to traumatic events. The Psychiatric Genomics Consortium PTSD group (PGC-PTSD) has collected over 20,000 multi-ethnic ... -
Generalized admixture mapping for complex traits.
(G3 (Bethesda), 2013-07-08)Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing ... -
Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics.
(BMC medical genomics, 2014-06)<h4>Background</h4>Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients ... -
In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.
(PLoS Genet, 2015-07)African Americans have a disproportionate risk for developing nephropathy. This disparity has been attributed to coding variants (G1 and G2) in apolipoprotein L1 (APOL1); however, there is little functional evidence supporting ... -
Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.
(BMC Genomics, 2015-01-22)BACKGROUND: Expression quantitative trait loci (eQTL) play an important role in the regulation of gene expression. Gene expression levels and eQTLs are expected to vary from tissue to tissue, and therefore multi-tissue analyses ... -
Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.
(PloS one, 2013-01)Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic ... -
The PsychENCODE project.
(Nat Neurosci, 2015-12)
