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Cancer Cell · April 2, 2024
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NPJ Genomic Medicine · March 27, 2024
Advancing access to genome sequencing for rare genetic disorders: recent progress and call to action.
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Science Advances · March 22, 2024
Childhood cancer mutagenesis caused by transposase-derived PGBD5.
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NPJ Genomic Medicine · March 22, 2024
Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates.
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STAR Protocols · March 20, 2024
GoT-Splice protocol for multi-omics profiling of gene expression, cell-surface proteins, mutational status, and RNA splicing in human cells.
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JMIR Publications · March 15, 2024
A Closed-Loop Digital Health Tool to Improve Depression Care in Multiple Sclerosis: Iterative Design and Cross-Sectional Pilot Randomized Controlled Trial and its Impact on Depression Care.
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Molecular Psychiatry · March 14, 2024
Early-life prefrontal cortex inhibition and early-life stress lead to long-lasting behavioral, transcriptional, and physiological impairments.
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PLoS One · March 13, 2024
The impact of genetically controlled splicing on exon inclusion and protein structure.
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European Journal of Human Genetics · March 11, 2024
Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.
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Science Direct. · March 11, 2024
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.