Our Scientific Publications
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JMIR Publications · March 15, 2024
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bioRxiv · March 14, 2024 · Pre-Print
Enhancer-targeted CRISPR-Activation Rescues Haploinsufficient Autism Susceptibility Genes.
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Nature · 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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Nature · 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 · Pre-Print
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 · Pre-Print
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 · Pre-Print
Systematic reconstruction of molecular pathway signatures using scalable single-cell perturbation screens.
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EMBO Reports · January 16, 2024
Osteocalcin of maternal and embryonic origins synergize to establish homeostasis in offspring.
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Cancer Discovery · January 12, 2024
Jak2V617F Reversible Activation Shows Its Essential Requirement in Myeloproliferative Neoplasms.
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bioRxiv · January 12, 2024 · Pre-Print
Comparative analysis of multiplexed in situ gene expression profiling technologies.
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American Journal of Human Genetics · January 4, 2023
Interaction molecular QTL mapping discovers cellular and environmental modifiers of genetic regulatory effects.
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CA Cancer J Clin · January 4, 2024
Interpreting and integrating genomic tests results in clinical cancer care: Overview and practical guidance.
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bioRxiv · December 31, 2023 · Pre-Print
Specifying cellular context of transcription factor regulons for exploring context-specific gene regulation programs.