Publications by authors named "Nick Stong"
Article Synopsis
- The study explored the role of de novo noncoding variants (DNVs) in autism and identified a specific enhancer, hs737, with an excess of DNVs linked to the condition.
- Enhancer hs737 was associated with shared traits like male gender, intact cognitive function, and motor delays among individuals with DNVs.
- The research indicates that hs737 influences the transcription factor gene EBF3, which is important in neurodevelopmental disorders and shows promise as a target for further genetic studies in autism.
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have been reported. We add 18 patients with de novo mutations to this cohort, including a patient with mosaicism for a GNB1 mutation who presented with a milder phenotype.
View Article and Find Full Text PDFThe contribution of human subtelomeric DNA and chromatin organization to telomere integrity and chromosome end protection is not yet understood in molecular detail. Here, we show by ChIP-Seq that most human subtelomeres contain a CTCF- and cohesin-binding site within ∼1-2 kb of the TTAGGG repeat tract and adjacent to a CpG-islands implicated in TERRA transcription control. ChIP-Seq also revealed that RNA polymerase II (RNAPII) was enriched at sites adjacent to the CTCF sites and extending towards the telomere repeat tracts.
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