May 04, 2021 article Open access Benchmarking deep learning splice prediction tools using functional splice assays Human Mutation DOI: 10.1002/humu.24212 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 5 stored of 101 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 Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel 2024 medRxiv preprint Medicine Genetic factors in colorectal cancer Open access 7 citations Practical Recommendations for the Selection of Patients for Individualized Splice-Switching ASO-Based Treatments 2024 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 7 citations QR-1011 restores defective ABCA4 splicing caused by multiple severe ABCA4 variants underlying Stargardt disease 2024 Scientific Reports article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 8 citations Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing 2023 Human Molecular Genetics article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access 10 citations Minigene‐based splicing analysis and ACMG / AMP ‐based tentative classification of 56 ATM variants 2022 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 23 citations 5 results References 1 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 Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics 2020 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Retinal Development and Disorders Open access cited by 1 patent 143 citations 1 result