Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases

Progress, challenges and global approaches to rare diseases

(2021) Stephen C. Groft et al.   ACTA PAEDIATRICA

Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

(2021) Muhammad Kassim Javaid et al.   Orphanet Journal of Rare Diseases

The Human Phenotype Ontology in 2021

(2020) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

(2020) Salma R. Ali et al.   International Journal of Environmental Research and Public Health

The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers

(2018) Sabina Gainotti et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for Improving the Quality of Rare Disease Registries

(2018) Yllka Kodra et al.   International Journal of Environmental Research and Public Health

European Reference networks for rare diseases: what is the conceptual framework?

(2017) Véronique Héon-Klin   Orphanet Journal of Rare Diseases

The FAIR Guiding Principles for scientific data management and stewardship

(2016) Mark D. Wilkinson et al.   Scientific Data

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Ready or not! Here comes ICD-10

(2011) Laxmaiah Manchikanti et al.   Journal of NeuroInterventional Surgery