January 01, 2019 article Open access Predicting Splicing from Primary Sequence with Deep Learning Cell DOI: 10.1016/j.cell.2018.12.015 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 54 stored of 3,095 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 Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein 2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 31 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 Breast cancer risks associated with missense variants in breast cancer susceptibility genes 2022 Genome Medicine article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 60 citations Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies 2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations Additional file 2 of Breast cancer risks associated with missense variants in breast cancer susceptibility genes 2022 Figshare dataset Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 0 citations Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein 2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk 2021 Cancer Research article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 58 citations Splicing predictions, minigene analyses, and ACMG ‐ AMP clinical classification of 42 germline PALB2 splice‐site variants 2021 The Journal of Pathology article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 24 citations Breast cancer risks associated with missense variants in breast cancer susceptibility genes 2021 medRxiv preprint Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access 5 citations Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel 2021 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 39 citations Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata 2021 Orphanet Journal of Rare Diseases article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 16 citations DLG4-related synaptopathy: a new rare brain disorder 2021 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 62 citations Helixer: cross-species gene annotation of large eukaryotic genomes using deep learning 2020 Bioinformatics article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access cited by 1 patent 179 citations 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 41–54 of 54 ← Previous Page 3 / 3 References 0