October 05, 2015 article Open access Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families Nature Genetics DOI: 10.1038/ng.3410 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 4 stored of 169 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 Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disorders 2025 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 2 citations Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities 2022 Genetics in Medicine article Biochemistry, Genetics and Molecular Biology Genetics and Neurodevelopmental Disorders Open access 9 citations Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases 2022 Human Mutation article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 10 citations Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies 2020 The American Journal of Human Genetics article Medicine Epilepsy research and treatment Open access 47 citations 4 results References 0