Search Results - "Larson, Jessica L."
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Diverse Brain Myeloid Expression Profiles Reveal Distinct Microglial Activation States and Aspects of Alzheimer’s Disease Not Evident in Mouse Models
Published in Cell reports (Cambridge) (16-01-2018)“…Microglia, the CNS-resident immune cells, play important roles in disease, but the spectrum of their possible activation states is not well understood. We…”
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Untangling the brain’s neuroinflammatory and neurodegenerative transcriptional responses
Published in Nature communications (21-04-2016)“…A common approach to understanding neurodegenerative disease is comparing gene expression in diseased versus healthy tissues. We illustrate that expression…”
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Dual leucine zipper kinase is required for excitotoxicity-induced neuronal degeneration
Published in The Journal of experimental medicine (18-11-2013)“…Excessive glutamate signaling is thought to underlie neurodegeneration in multiple contexts, yet the pro-degenerative signaling pathways downstream of…”
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4
Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk
Published in Genetics in medicine (01-02-2016)“…Purpose: Carrier screening for mutations contributing to cystic fibrosis (CF) is typically accomplished with panels composed of variants that are clinically…”
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Chromatin states accurately classify cell differentiation stages
Published in PloS one (20-02-2012)“…Gene expression is controlled by the concerted interactions between transcription factors and chromatin regulators. While recent studies have identified global…”
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Epigenetic domains found in mouse embryonic stem cells via a hidden Markov model
Published in BMC bioinformatics (12-11-2010)“…Epigenetics is an important layer of transcriptional control necessary for cell-type specific gene regulation. Recent studies have shown significant epigenetic…”
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Caspase-3 deficiency results in disrupted synaptic homeostasis and impaired attention control
Published in The Journal of neuroscience (04-02-2015)“…The ability to attend to relevant stimuli and to adapt dynamically as demands change is a core aspect of cognition, and one that is impaired in several…”
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Moment based gene set tests
Published in BMC bioinformatics (28-04-2015)“…Permutation-based gene set tests are standard approaches for testing relationships between collections of related genes and an outcome of interest in high…”
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Validation of a high resolution NGS method for detecting spinal muscular atrophy carriers among phase 3 participants in the 1000 Genomes Project
Published in BMC medical genetics (29-10-2015)“…Spinal muscular atrophy (SMA) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, SMN1. Most chromosome 5 homologs…”
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A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains
Published in Journal of Alzheimer's disease (01-01-2017)“…The common p.D358A variant (rs2228145) in IL-6R is associated with risk for multiple diseases and with increased levels of soluble IL-6R in the periphery and…”
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Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants
Published in The Journal of molecular diagnostics : JMD (01-06-2021)“…Spinal muscular atrophy is a severe autosomal recessive disease caused by disruptions in the SMN1 gene. The nearly identical SMN2 gene copy number is…”
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A tiered hidden Markov model characterizes multi-scale chromatin states
Published in Genomics (San Diego, Calif.) (01-07-2013)“…Precise characterization of chromatin states is an important but difficult task for understanding the regulatory role of chromatin. A number of computational…”
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ReportingTools: an automated result processing and presentation toolkit for high-throughput genomic analyses
Published in Bioinformatics (15-12-2013)“…It is common for computational analyses to generate large amounts of complex data that are difficult to process and share with collaborators. Standard methods…”
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Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements
Published in The Journal of molecular diagnostics : JMD (01-07-2019)“…We conducted a multilaboratory assessment to determine the suitability of a new commercially available reference material with 40 cancer variants in a…”
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Dry Beriberi Manifesting as Acute Inflammatory Demyelinating Polyneuropathy in a Patient With Decompensated Alcohol-Induced Cirrhosis
Published in Curēus (Palo Alto, CA) (31-10-2020)“…Thiamine (vitamin B1) deficiency is uncommon in developed countries and is most commonly seen in patients with poor dietary intake, malabsorption syndromes,…”
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Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children
Published in Genetic testing and molecular biomarkers (01-06-2016)“…DNA-based carrier screening is a standard component of donor eligibility protocols practiced by U.S. sperm banks. Applicants who test positive for carrying a…”
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Response to Sosnay et al
Published in Genetics in medicine (01-02-2016)Get full text
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Abstract 5574: A comprehensive, targeted next-generation sequencing method that rapidly and accurately detects circulating tumor DNA variants at 0.1% frequency in plasma samples
Published in Cancer research (Chicago, Ill.) (01-07-2018)“…Abstract Introduction: Mutation analysis of circulating tumor DNA (ctDNA) in blood-based liquid biopsies provides a minimally invasive approach to detect and…”
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Dual leucine zipper kinase is required for excitotoxicity induced neuronal degeneration
Published in The Journal of cell biology (11-11-2013)Get full text
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The role of mental health and school perception in academic success for racial minority youth in an urban setting
Published 01-01-2011“…Academic achievement and educational attainment have been linked to many positive outcomes for youth. Mental health and school perception factors may play a…”
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Dissertation