PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
Work
Year: 2015
Type: article
Abstract: The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to ... more
Source: Human Mutation
Institutions University of Toronto, Hospital for Sick Children, Children's Hospital of Eastern Ontario, Office of the Director, National Institutes of Health +3 more
Cites: 30
Cited by: 120
Related to: 10
FWCI: 11.1
Citation percentile (by year/subfield): 92.91
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Sustainable Development Goal Partnerships for the goals
Open Access status: gold
APC paid (est): $2,300