March 29, 2020 article Open access Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq Genetics in Medicine DOI: 10.1038/s41436-020-0780-y Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 1 stored of 96 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 Coupling deep phenotypic quantification with next-generation phenotyping for 192 individuals with germline histonopathies 2025 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 2 citations 1 result References 0