ATProto Browser

{
  "text": "Very happy to see our work with Henry Houlden's group and others on RBL2/Rbf mutations linked to a multifaceted neurodevelopmental disorder, published in Brain today. This work was led by super post-doc @gabrielaughey.bsky.social, Elisa Cali, and Reza Maroofian.\n\nacademic.oup.com/brain/advanc...",
  "$type": "app.bsky.feed.post",
  "embed": {
    "$type": "app.bsky.embed.external",
    "external": {
      "uri": "https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae363/7927689?utm_source=advanceaccess&utm_campaign=brain&utm_medium=email",
      "thumb": {
        "$type": "blob",
        "ref": {
          "$link": "bafkreie7yr5g3bpe4qlwjixkjch5a5gwjrnk4z27p7baadwnha6tjxdmaq"
        },
        "mimeType": "image/jpeg",
        "size": 632122
      },
      "title": "Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder",
      "description": "RBL2 dysfunction, which disrupts cell-cycle gene expression, has been linked to a severe neurodevelopmental disorder. Aughey et al. characterize a cohort o"
    }
  },
  "langs": [
    "en"
  ],
  "facets": [
    {
      "$type": "app.bsky.richtext.facet",
      "index": {
        "byteEnd": 229,
        "byteStart": 203
      },
      "features": [
        {
          "did": "did:plc:z2crwulqeekt226apzohi77y",
          "$type": "app.bsky.richtext.facet#mention"
        }
      ]
    },
    {
      "index": {
        "byteEnd": 296,
        "byteStart": 264
      },
      "features": [
        {
          "uri": "https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awae363/7927689?utm_source=advanceaccess&utm_campaign=brain&utm_medium=email",
          "$type": "app.bsky.richtext.facet#link"
        }
      ]
    }
  ],
  "createdAt": "2024-12-18T18:30:04.435Z"
}