@ARTICLE{Velmeshev2019-uk,
  title    = "Single-cell genomics identifies cell type-specific molecular
              changes in autism",
  author   = "Velmeshev, Dmitry and Schirmer, Lucas and Jung, Diane and
              Haeussler, Maximilian and Perez, Yonatan and Mayer, Simone and
              Bhaduri, Aparna and Goyal, Nitasha and Rowitch, David H and
              Kriegstein, Arnold R",
  abstract = "Despite the clinical and genetic heterogeneity of autism, bulk
              gene expression studies show that changes in the neocortex of
              autism patients converge on common genes and pathways. However,
              direct assessment of specific cell types in the brain affected by
              autism has not been feasible until recently. We used
              single-nucleus RNA sequencing of cortical tissue from patients
              with autism to identify autism-associated transcriptomic changes
              in specific cell types. We found that synaptic signaling of
              upper-layer excitatory neurons and the molecular state of
              microglia are preferentially affected in autism. Moreover, our
              results show that dysregulation of specific groups of genes in
              cortico-cortical projection neurons correlates with clinical
              severity of autism. These findings suggest that molecular changes
              in upper-layer cortical circuits are linked to behavioral
              manifestations of autism.",
  journal  = "Science",
  volume   =  364,
  number   =  6441,
  pages    = "685--689",
  month    =  may,
  year     =  2019,
  language = "en"
}

{"_id":"kkQzzPCBjg2iJjqM6","bibbaseid":"velmeshev-schirmer-jung-haeussler-perez-mayer-bhaduri-goyal-etal-singlecellgenomicsidentifiescelltypespecificmolecularchangesinautism-2019","author_short":["Velmeshev, D.","Schirmer, L.","Jung, D.","Haeussler, M.","Perez, Y.","Mayer, S.","Bhaduri, A.","Goyal, N.","Rowitch, D. H","Kriegstein, A. R"],"bibdata":{"bibtype":"article","type":"article","title":"Single-cell genomics identifies cell type-specific molecular changes in autism","author":[{"propositions":[],"lastnames":["Velmeshev"],"firstnames":["Dmitry"],"suffixes":[]},{"propositions":[],"lastnames":["Schirmer"],"firstnames":["Lucas"],"suffixes":[]},{"propositions":[],"lastnames":["Jung"],"firstnames":["Diane"],"suffixes":[]},{"propositions":[],"lastnames":["Haeussler"],"firstnames":["Maximilian"],"suffixes":[]},{"propositions":[],"lastnames":["Perez"],"firstnames":["Yonatan"],"suffixes":[]},{"propositions":[],"lastnames":["Mayer"],"firstnames":["Simone"],"suffixes":[]},{"propositions":[],"lastnames":["Bhaduri"],"firstnames":["Aparna"],"suffixes":[]},{"propositions":[],"lastnames":["Goyal"],"firstnames":["Nitasha"],"suffixes":[]},{"propositions":[],"lastnames":["Rowitch"],"firstnames":["David","H"],"suffixes":[]},{"propositions":[],"lastnames":["Kriegstein"],"firstnames":["Arnold","R"],"suffixes":[]}],"abstract":"Despite the clinical and genetic heterogeneity of autism, bulk gene expression studies show that changes in the neocortex of autism patients converge on common genes and pathways. However, direct assessment of specific cell types in the brain affected by autism has not been feasible until recently. We used single-nucleus RNA sequencing of cortical tissue from patients with autism to identify autism-associated transcriptomic changes in specific cell types. We found that synaptic signaling of upper-layer excitatory neurons and the molecular state of microglia are preferentially affected in autism. Moreover, our results show that dysregulation of specific groups of genes in cortico-cortical projection neurons correlates with clinical severity of autism. These findings suggest that molecular changes in upper-layer cortical circuits are linked to behavioral manifestations of autism.","journal":"Science","volume":"364","number":"6441","pages":"685–689","month":"May","year":"2019","language":"en","bibtex":"@ARTICLE{Velmeshev2019-uk,\n title = \"Single-cell genomics identifies cell type-specific molecular\n changes in autism\",\n author = \"Velmeshev, Dmitry and Schirmer, Lucas and Jung, Diane and\n Haeussler, Maximilian and Perez, Yonatan and Mayer, Simone and\n Bhaduri, Aparna and Goyal, Nitasha and Rowitch, David H and\n Kriegstein, Arnold R\",\n abstract = \"Despite the clinical and genetic heterogeneity of autism, bulk\n gene expression studies show that changes in the neocortex of\n autism patients converge on common genes and pathways. However,\n direct assessment of specific cell types in the brain affected by\n autism has not been feasible until recently. We used\n single-nucleus RNA sequencing of cortical tissue from patients\n with autism to identify autism-associated transcriptomic changes\n in specific cell types. We found that synaptic signaling of\n upper-layer excitatory neurons and the molecular state of\n microglia are preferentially affected in autism. Moreover, our\n results show that dysregulation of specific groups of genes in\n cortico-cortical projection neurons correlates with clinical\n severity of autism. These findings suggest that molecular changes\n in upper-layer cortical circuits are linked to behavioral\n manifestations of autism.\",\n journal = \"Science\",\n volume = 364,\n number = 6441,\n pages = \"685--689\",\n month = may,\n year = 2019,\n language = \"en\"\n}\n\n","author_short":["Velmeshev, D.","Schirmer, L.","Jung, D.","Haeussler, M.","Perez, Y.","Mayer, S.","Bhaduri, A.","Goyal, N.","Rowitch, D. H","Kriegstein, A. R"],"key":"Velmeshev2019-uk","id":"Velmeshev2019-uk","bibbaseid":"velmeshev-schirmer-jung-haeussler-perez-mayer-bhaduri-goyal-etal-singlecellgenomicsidentifiescelltypespecificmolecularchangesinautism-2019","role":"author","urls":{},"metadata":{"authorlinks":{}}},"bibtype":"article","biburl":"https://bibbase.org/f/EJMp3HRuxirjxpcXh/references.bib","dataSources":["sAFYeB74DpbdXM9NN","4zx9n2tbeLTix3Wxr","k3cdWrThyTh5o59Rm","hq9pebjzmsTuyxGGx","h8Atv2SAy4PmShg5j"],"keywords":[],"search_terms":["single","cell","genomics","identifies","cell","type","specific","molecular","changes","autism","velmeshev","schirmer","jung","haeussler","perez","mayer","bhaduri","goyal","rowitch","kriegstein"],"title":"Single-cell genomics identifies cell type-specific molecular changes in autism","year":2019}