Search Results - "Xi, Hualin S."
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Using an atlas of gene regulation across 44 human tissues to inform complex disease- and trait-associated variation
Published in Nature genetics (01-07-2018)“…We apply integrative approaches to expression quantitative loci (eQTLs) from 44 tissues from the Genotype-Tissue Expression project and genome-wide association…”
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Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis
Published in Nature neuroscience (01-08-2018)“…Genome-wide association studies have identified 108 schizophrenia risk loci, but biological mechanisms for individual loci are largely unknown. Using…”
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3'Pool-seq: an optimized cost-efficient and scalable method of whole-transcriptome gene expression profiling
Published in BMC genomics (20-01-2020)“…The advent of Next Generation Sequencing has allowed transcriptomes to be profiled with unprecedented accuracy, but the high costs of full-length mRNA…”
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Roadmap for the use of base editors to decipher drug mechanism of action
Published in PloS one (21-09-2021)“…CRISPR base editors are powerful tools for large-scale mutagenesis studies. This kind of approach can elucidate the mechanism of action of compounds, a key…”
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Transcriptomic RNAseq drug screen in cerebrocortical cultures: toward novel neurogenetic disease therapies
Published in Human molecular genetics (15-09-2018)“…Abstract Rare monogenic diseases affect millions worldwide; although over 4500 rare disease genotypes are known, disease-modifying drugs are available for only…”
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Activated microglia cause metabolic disruptions in developmental cortical interneurons that persist in interneurons from individuals with schizophrenia
Published in Nature neuroscience (01-11-2020)“…The mechanisms by which prenatal immune activation increase the risk for neuropsychiatric disorders are unclear. Here, we generated developmental cortical…”
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Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia
Published in Human molecular genetics (15-06-2015)“…The CD33 single-nucleotide polymorphism (SNP) rs3865444 has been associated with the risk of Alzheimer's disease (AD). Rs3865444 is in linkage disequilibrium…”
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BrainSeq: Neurogenomics to Drive Novel Target Discovery for Neuropsychiatric Disorders
Published in Neuron (Cambridge, Mass.) (16-12-2015)“…We outline an ambitious project to characterize the genetic and epigenetic regulation of multiple facets of transcription in distinct brain regions across the…”
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Translating Human Genetics into Novel Treatment Targets for Schizophrenia
Published in Neuron (Cambridge, Mass.) (05-11-2014)“…Human genetics is a rational starting point for target identification in drug discovery, yet this approach has found little application in neuroscience. Recent…”
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HIF1α is required for survival maintenance of chronic myeloid leukemia stem cells
Published in Blood (15-03-2012)“…Hypoxia-inducible factor-1α (HIF1α), a master transcriptional regulator of the cellular and systemic hypoxia response, is essential for the maintenance of…”
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Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Published in Science translational medicine (19-04-2017)“…Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic…”
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Investigating the neuroimmunogenic architecture of schizophrenia
Published in Molecular psychiatry (01-05-2018)“…The role of the immune system in schizophrenia remains controversial despite numerous studies to date. Most studies have profiled expression of select genes or…”
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Activated microglia cause metabolic disruptions in developmental cortical interneuron that persist in schizophrenia-patient-derived interneurons
Published in Nature neuroscience (23-10-2020)“…The mechanisms by which prenatal immune activation increase risk for neuropsychiatric disorders are unclear. Here, we generated developmental cortical…”
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Potassium channel gene associations with joint processing speed and white matter impairments in schizophrenia
Published in Genes, brain and behavior (01-06-2017)“…Patients with schizophrenia show decreased processing speed on neuropsychological testing and decreased white matter integrity as measured by diffusion tensor…”
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