Detecting differential usage of exons from RNA-seq data

• Timing matters: Exon skipping therapy is most effective when initiated early in a mouse model of Duchenne muscular dystrophy

  2026 Molecular Therapy — Nucleic Acids article Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  0

  citations
• Consistent changes in global gene expression patterns despite strong variation in individual gene expression in the male mouse hippocampus following early life stress

  2026 Neurobiology of Stress article Neuroscience Stress Responses and Cortisol Open access

  0

  citations
• Timing matters: exon skipping therapy is most effective when initiated early in a mouse model of Duchenne muscular dystrophy

  2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Muscle Physiology and Disorders Open access

  0

  citations
• TDP-43 loss induces cryptic polyadenylation in ALS/FTD

  2025 Nature Neuroscience article Medicine Amyotrophic Lateral Sclerosis Research Open access

  33

  citations
• Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

  2025 Molecular Oncology article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access

  2

  citations
• Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation

  2023 EMBO Molecular Medicine article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

  12

  citations
• Systematic screening identifies ABCG2 as critical factor underlying synergy of kinase inhibitors with transcriptional CDK inhibitors

  2023 Breast Cancer Research article Medicine Advanced Breast Cancer Therapies Open access

  14

  citations
• Challenges in neoantigen-directed therapeutics

  2022 Cancer Cell article Medicine Cancer Immunotherapy and Biomarkers Open access cited by 1 patent

  143

  citations
• THO complex deficiency impairs DNA double-strand break repair via the RNA surveillance kinase SMG-1

  2022 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology DNA Repair Mechanisms Open access

  9

  citations
• A molecular map of long non-coding RNA expression, isoform switching and alternative splicing in osteoarthritis

  2022 Human Molecular Genetics article Medicine Osteoarthritis Treatment and Mechanisms Open access

  30

  citations
• Deep and accurate detection of m6A RNA modifications using miCLIP2 and m6Aboost machine learning

  2021 Nucleic Acids Research article Biochemistry, Genetics and Molecular Biology RNA modifications and cancer Open access

  126

  citations
• Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

  2021 Nature Communications article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  172

  citations
• Deep and accurate detection of m 6 A RNA modifications using miCLIP2 and m6Aboost machine learning

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology RNA modifications and cancer Open access

  3

  citations
• Single-Cell RNA Sequencing Reveals mRNA Splice Isoform Switching during Kidney Development

  2020 Journal of the American Society of Nephrology article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

  24

  citations
• Genome-wide alternative splicing profiling in the fungal plant pathogen Sclerotinia sclerotiorum during the colonization of diverse host families

  2020 bioRxiv (Cold Spring Harbor Laboratory) preprint Agricultural and Biological Sciences Plant pathogens and resistance mechanisms Open access

  2

  citations
• Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information

  2020 Nature Communications article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access

  39

  citations

16 results