RNA mis-splicing in disease

• Genetic regulation of RNA splicing in human pancreatic islets

  2022 Genome biology article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  32

  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
• Genetic regulation of RNA splicing in human pancreatic islets

  2021 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access

  8

  citations
• RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants

  2021 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  22

  citations
• From Antisense RNA to RNA Modification: Therapeutic Potential of RNA-Based Technologies

  2021 Biomedicines article Biochemistry, Genetics and Molecular Biology RNA Interference and Gene Delivery Open access cited by 3 patents

  81

  citations
• Spliceosomal snRNA Epitranscriptomics

  2021 Frontiers in Genetics article Biochemistry, Genetics and Molecular Biology RNA Research and Splicing Open access cited by 1 patent

  116

  citations
• Comprehensive Functional Characterization and Clinical Interpretation of 20 Splice-Site Variants of the RAD51C Gene

  2020 Cancers article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access

  20

  citations
• Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12

  2020 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer

  34

  citations

8 results