June 12, 2017 preprint Open access Regional missense constraint improves variant deleteriousness prediction bioRxiv (Cold Spring Harbor Laboratory) DOI: 10.1101/148353 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 7 stored of 403 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 An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants 2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations Polygenic and developmental profiles of autism differ by age at diagnosis 2025 Nature article Neuroscience Autism Spectrum Disorder Research Open access 49 citations Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors 2025 BMC Genomics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 2024 Nature Neuroscience article Medicine Epilepsy research and treatment Open access 68 citations Mutational Constraint Analysis Workflow for Overlapping Short Open Reading Frames and Genomic Neighbours 2024 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 0 citations The role of common genetic variation in presumed monogenic epilepsies 2022 EBioMedicine article Medicine Epilepsy research and treatment Open access 42 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 7 results References 0