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Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex
Building a brain The human brain is built in an inside-out manner as a series of layers. Although progenitor cells spin off new neurons in a seemingly organized fashion, the devil is in the details.Expand
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
Summary We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework to integrate de novoExpand
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Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2
Mycosis fungoides and Sézary syndrome comprise the majority of cutaneous T cell lymphomas (CTCLs), disorders notable for their clinical heterogeneity that can present in skin or peripheral blood.Expand
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Single-cell genomics identifies cell type–specific molecular changes in autism
Brain cell transcriptomes in autism Autism manifests in many ways. Despite that diversity, the disorder seems to affect specific cellular pathways, including those observed in the neocortex ofExpand
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Quantitative analysis of mammalian translation initiation sites by FACS-seq
An approach combining fluorescence‐activated cell sorting and high‐throughput DNA sequencing (FACS‐seq) was employed to determine the efficiency of start codon recognition for all possibleExpand
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Single-cell profiling of human gliomas reveals macrophage ontogeny as a basis for regional differences in macrophage activation in the tumor microenvironment
BackgroundTumor-associated macrophages (TAMs) are abundant in gliomas and immunosuppressive TAMs are a barrier to emerging immunotherapies. It is unknown to what extent macrophages derived fromExpand
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Recurrent point mutations in the kinetochore gene KNSTRN in cutaneous squamous cell carcinoma
Here we report the discovery of recurrent mutations concentrated at an ultraviolet signature hotspot in KNSTRN, which encodes a kinetochore protein, in 19% of cutaneous squamous cell carcinomasExpand
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Establishing Cerebral Organoids as Models of Human-Specific Brain Evolution
Direct comparisons of human and non-human primate brains can reveal molecular pathways underlying remarkable specializations of the human brain. However, chimpanzee tissue is inaccessible duringExpand
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Transcriptome sequencing in Sezary syndrome identifies Sezary cell and mycosis fungoides-associated lncRNAs and novel transcripts.
Sézary syndrome (SS) is an aggressive cutaneous T-cell lymphoma (CTCL) of unknown etiology in which malignant cells circulate in the peripheral blood. To identify viral elements, gene fusions, andExpand
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Cell Stress in Cortical Organoids Impairs Molecular Subtype Specification
Cortical organoids are self-organizing three-dimensional cultures that model features of the developing human cerebral cortex 1 , 2 . However, the fidelity of organoid models remains unclear 3 – 5 .Expand
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