Search Results - "LaFlamme, Christy W"
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An integrated single-cell RNA-seq map of human neuroblastoma tumors and preclinical models uncovers divergent mesenchymal-like gene expression programs
Published in Genome Biology (19-06-2024)“…Neuroblastoma is a common pediatric cancer, where preclinical studies suggest that a mesenchymal-like gene expression program contributes to chemotherapy…”
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Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report
Published in Epilepsia open (01-04-2024)“…About 50% of individuals with developmental and epileptic encephalopathies (DEEs) are unsolved following genetic testing. Deep intronic variants, defined as…”
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Dyrk1a Mutations Cause Undergrowth of Cortical Pyramidal Neurons via Dysregulated Growth Factor Signaling
Published in Biological psychiatry (1969) (01-09-2021)“…Mutations in DYRK1A are a cause of microcephaly, autism spectrum disorder, and intellectual disability; however, the underlying cellular and molecular…”
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Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement
Published in Nature communications (06-08-2024)“…Sequence-based genetic testing identifies causative variants in ~ 50% of individuals with developmental and epileptic encephalopathies (DEEs). Aberrant changes…”
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Abstract B006: An integrated single-cell RNA-seq map of human neuroblastoma tumors and preclinical models uncovers divergent mesenchymal-like gene expression programs
Published in Cancer research (Chicago, Ill.) (05-09-2024)“…Preclinical models such as cell lines and mice are the backbone of drug development and experimental-mechanistic oncology. However, we currently lack a…”
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Abstract 868: A novel unsupervised machine learning model applied to neuroblastoma single-cell RNA-seq data reveals a drug-induced mesenchymal-like gene expression program
Published in Cancer research (Chicago, Ill.) (22-03-2024)“…High-risk neuroblastoma is one of the most difficult to treat pediatric cancers, with a survival rate of only about 50% and significant long-term consequences…”
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