Found 7 results
Filters: Author is Mooney, Sean D [Clear All Filters]
Assessing Computational Predictions of the Phenotypic Effect of Cystathionine-beta-Synthase Variants. Hum Mutat. 2019 .
Assessment of predicted enzymatic activity of alpha-N-acetylglucosaminidase (NAGLU) variants of unknown significance for CAGI 2016. Hum Mutat. 2019 .
CAGI SickKids challenges: Assessment of phenotype and variant predictions derived from clinical and genomic data of children with undiagnosed diseases. Hum Mutat. 2019 .
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. Genome Med. 2017 ;9(1):113.
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. Hum Mutat. 2017 .