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Antisense oligonucleotides
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dystrophinopathies
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inversion
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DMD antisense oligonucleotide mediated exon skipping efficiency correlates with flanking intron retention time and target position within the exon
Antisense oligonucleotide-mediated disruption of HTT caspase-6 cleavage site ameliorates the phenotype of YAC128 Huntington disease mice
STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells
Iron accumulation induces oxidative stress, while depressing inflammatory polarization in human iPSC-derived microglia
Integrating whole-genome sequencing in clinical genetics
Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)
Adenine base editing of the DUX4 polyadenylation signal for targeted genetic therapy in facioscapulohumeral muscular dystrophy
Detailed genetic and functional analysis of the hDMDdel52/mdx mouse model
Immune stimuli shape the small non-coding transcriptome of extracellular vesicles released by dendritic cells
Parental haplotype-specific single-cell transcriptomics reveal incomplete epigenetic reprogramming in human female germ cells
Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing
Searching for avidity by chemical ligation of combinatorially self-assembled DNA-encoded ligand libraries
Non-sequential and multi-step splicing of the dystrophin transcript
Huntington's disease biomarker progression profile identified by transcriptome sequencing in peripheral blood
KeyGenes, a Tool to Probe Tissue Differentiation Using a Human Fetal Transcriptional Atlas
Determining the quality and complexity of next-generation sequencing data without a reference genome
New insights into domestication of carrot from root transcriptome analysis
DeepSAGE Reveals Genetic Variants Associated with Alternative Polyadenylation and Expression of Coding and Non-coding Transcripts
Fine-Tiling Array CGH to Improve Diagnostics for alpha- and beta-Thalassemia Rearrangements
Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements
Directed adenovirus evolution using engineered mutator viral polymerases
Experiences with array-based sequence capture; toward clinical applications
New methods for next generation sequencing based microRNA expression profiling
High-Resolution Whole-Genome Sequencing Reveals That Specific Chromatin Domains from Most Human Chromosomes Associate with Nucleoli
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