AJHG
Showing 1–12 of 14 results
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A Transchromosomic Rat Model of Down Syndrome
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CRISPR activation to study splice-altering variants
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Enhanced genetic diagnosis through RNA-seq analysis of transdifferentiated cells
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Exome CNV detection and classification in rare diseases
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Exploring Patterns of Mosaicism in One Million People
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Identifying Disease Risk Through Newborn Genomic Sequencing
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In vivo correction of human phenylketonuria variants via base and prime editing
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Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity
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New Insights Into Preeclampsia Genetic Risk Factors
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Population-Scale Discovery of Genetic Risk Factors
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Regulatory features aid interpretation of 3’UTR variants
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Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding
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