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A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortex.

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Title: A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortex.
Authors: Vuong CK; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Weber A; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Genetics and Genomics Graduate Program, University of California, Los Angeles, Los Angeles, CA, USA., Seong P; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Matoba N; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; UNC Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Chen YJ; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Peyer J; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Medical Scientist Training Program, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Younesi S; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Salinda A; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Gomez D; Department of Molecular Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA, USA., Rivas G; Department of Molecular Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA, USA., Morales A; Department of Molecular Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA, USA.; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA, USA., Shafie B; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Zhang P; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Nichterwitz S; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Qi L; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Fernandez NT; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Friedman E; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA., Love MI; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Gandal MJ; Department of Psychiatry and Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Lifespan Brain Institute at Penn Med and the Children's Hospital of Philadelphia, Philadelphia, PA, USA., Geschwind DH; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.; Program in Neurobehavioral Genetics and Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA., Lowry WE; Department of Molecular Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA, USA.; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA, USA., Stein JL; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; UNC Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, Carrboro, NC, USA., de la Torre-Ubieta L; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
Source: Science (New York, N.Y.) [Science] 2026 Apr 23; Vol. 392 (6796), pp. eaea1259. Date of Electronic Publication: 2026 Apr 23.
Publication Type: Journal Article
Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A single-cell multiomic analysis identifies molecular and gene-regulatory mechanisms dysregulated in developing Down syndrome neocortex.
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  Data: <searchLink fieldCode="AU" term="%22Vuong+CK%22">Vuong CK</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Weber+A%22">Weber A</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Genetics and Genomics Graduate Program, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Seong+P%22">Seong P</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Matoba+N%22">Matoba N</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; UNC Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Chen+YJ%22">Chen YJ</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Peyer+J%22">Peyer J</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Medical Scientist Training Program, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Younesi+S%22">Younesi S</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Salinda+A%22">Salinda A</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Gomez+D%22">Gomez D</searchLink>; Department of Molecular Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Rivas+G%22">Rivas G</searchLink>; Department of Molecular Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Morales+A%22">Morales A</searchLink>; Department of Molecular Cell and Developmental Biology, University of California Los Angeles, Los Angeles, CA, USA.; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Shafie+B%22">Shafie B</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+P%22">Zhang P</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Nichterwitz+S%22">Nichterwitz S</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Qi+L%22">Qi L</searchLink>; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Fernandez+NT%22">Fernandez NT</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Friedman+E%22">Friedman E</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.<br /><searchLink fieldCode="AU" term="%22Love+MI%22">Love MI</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Gandal+MJ%22">Gandal MJ</searchLink>; Department of Psychiatry and Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Lifespan Brain Institute at Penn Med and the Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Geschwind+DH%22">Geschwind DH</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; 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Carolina Institute for Developmental Disabilities, Carrboro, NC, USA.<br /><searchLink fieldCode="AU" term="%22de+la+Torre-Ubieta+L%22">de la Torre-Ubieta L</searchLink>; Department of Psychiatry and Biobehavioral Sciences, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.; Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.; Intellectual and Developmental Disabilities Research Center, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA.
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