Our Scientific Publications
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bioRxiv · April 10, 2024 · Preprint
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Cancer Cell · April 2, 2024
Mutant IDH inhibitors induce lineage differentiation in IDH-mutant oligodendroglioma.
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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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bioRxiv · March 14, 2024 · Preprint
Enhancer-targeted CRISPR-Activation Rescues Haploinsufficient Autism Susceptibility Genes.
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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.
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bioRxiv · March 7, 2024 · Preprint
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation.
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Applied Clinical Informatics. · March 6, 2024
Examining the Generalizability of Pretrained De-identification Transformer Models on Narrative Nursing Notes.
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JAMA Surgery. · March 6, 2024
Tumor-Associated Lymphocytes and Breast Cancer Survival in Black and White Women.
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Nature Aging. · February 21, 2024
Leveraging electronic health records and knowledge networks for Alzheimer’s disease prediction and sex-specific biological insights.
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bioRxiv. · February 11, 2024 · Preprint
The Genotype and Phenotypes in Families (GPF) platform manages the large and complex data at SFARI.
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Nature Biotechnology. · February 9, 2024
Simultaneous single-cell analysis of 5mC and 5hmC with SIMPLE-seq.
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Annals of the American Thoracic Society. · February 8, 2024
Peripheral Blood Mononuclear Cell Gene Expression Associated with Pulmonary Microvascular Perfusion: The Multi-Ethnic Study of Atherosclerosis Chronic Obstructive Pulmonary Disease Study.
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Muscle & Nerve. · February 2, 2024
Identification of gene fusions associated with amyotrophic lateral sclerosis.
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bioRxiv. · January 29, 2024 · Preprint
Systematic reconstruction of molecular pathway signatures using scalable single-cell perturbation screens.