April 20, 2018 article Open access Splicing mutations in human genetic disorders: examples, detection, and confirmation Journal of Applied Genetics DOI: 10.1007/s13353-018-0444-7 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 4 stored of 688 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium 2026 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer 0 citations mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome 2026 Kidney International Reports article Medicine Renal Diseases and Glomerulopathies Open access 1 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 General considerations 2021 Elsevier eBooks book-chapter Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases 1 citations 4 results References 0