Synaptic, transcriptional and chromatin genes disrupted in autism - PubMed (original) (raw)

• Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism.
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• Cell-type-specific splicing of transcription regulators and Ptbp1 by Rbfox1/2/3 in the developing neocortex.
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• Crosstalk between ubiquitination and translation in neurodevelopmental disorders.
  Elu N, Subash S, R Louros S. Elu N, et al. Front Mol Neurosci. 2024 Sep 2;17:1398048. doi: 10.3389/fnmol.2024.1398048. eCollection 2024. Front Mol Neurosci. 2024. PMID: 39286313 Free PMC article. Review.
• A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.
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• Association of genetic variants with autism spectrum disorder in Japanese children revealed by targeted sequencing.
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