May 27, 2020 article Open access Transcript expression-aware annotation improves rare variant interpretation Nature DOI: 10.1038/s41586-020-2329-2 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 5 stored of 210 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 Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes 2024 The American Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 29 citations Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features 2024 Human Genetics and Genomics Advances article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 3 citations Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features 2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 1 citations Deep structured learning for variant prioritization in Mendelian diseases 2023 Nature Communications article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 46 citations A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria 2021 Genes article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 12 citations 5 results References 0