November 02, 2016 article Open access The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species Nucleic Acids Research DOI: 10.1093/nar/gkw1128 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 6 stored of 493 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 RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets 2025 npj Genomic Medicine article Health Professions Electronic Health Records Systems Open access 4 citations Linking international registries to FHIR and Phenopackets with RareLink: a scalable REDCap-based framework for rare disease data interoperability 2025 medRxiv preprint Health Professions Electronic Health Records Systems Open access 1 citations Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals 2024 Nature Medicine article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 14 citations PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders 2023 medRxiv preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access 1 citations Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity 2021 Journal of Allergy and Clinical Immunology article Biochemistry, Genetics and Molecular Biology Biomedical Text Mining and Ontologies Open access 33 citations The case for open science: rare diseases 2020 JAMIA Open article Computer Science Research Data Management Practices Open access 63 citations 6 results References 0