Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support

Paul A. Harris, Robert Taylor, Robert J. Thielke et al. · Journal of Biomedical Informatics · 2008 · 51.7K citations · Full text

Management, Biomedical Informatics, Information Systems +17

The REDCap consortium: Building an international community of software platform partners

Paul A. Harris, Robert J. Taylor, Brenda L. Minor et al. · Journal of Biomedical Informatics · 2019 · 24K citations · Full text

Business, Computer Science, Information Technology +15

The FAIR Guiding Principles for scientific data management and stewardship

Mark D. Wilkinson, Michel Dumontier, IJsbrand Jan Aalbersberg et al. · Scientific Data · 2016 · 17.8K citations · Full text

Computing, Computer Science, Data Science +17

Assumption-Free Estimation of Heritability from Genome-Wide Identity-by-Descent Sharing between Full Siblings

Peter M. Visscher, Sarah E. Medland, Manuel A. R. Ferreira et al. · PLoS Genetics · 2006 · 659 citations · Full text

Life Sciences, Evolutionary Biology, Genetics +15

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Philippa B. Mills, Eduard A. Struys, Cornelis Jakobs et al. · Nature Medicine · 2006 · 547 citations

Medicine, Neurology, Neuroscience +11