Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics

por Lee, Jessica J Y, van Karnebeek, Clara D M, Wasserman, Wyeth W
Publicado 2018

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

por Lee, Jessica J Y, Wasserman, Wyeth W, Hoffmann, Georg F, van Karnebeek, Clara D M, Blau, Nenad
Publicado 2018

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

por van Karnebeek, Clara D. M., Sayson, Bryan, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Horvath, Gabriella A., Ferreira, Carlos R.
Publicado 2018

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

por Lee, Jessica J. Y., Gottlieb, Michael M., Lever, Jake, Jones, Steven J. M., Blau, Nenad, van Karnebeek, Clara D. M., Wasserman, Wyeth W.
Publicado 2018

Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy

por Lee, Jessica J. Y., van Karnebeek, Clara D. M., Drögemoller, Britt, Shyr, Casper, Tarailo-Graovac, Maja, Eydoux, Patrice, Ross, Colin J., Wasserman, Wyeth W., Björnson, Bruce, Wu, John K.
Publicado 2016