Marta Gîrdea
University Health Network(CA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Genomic variations and chromosomal abnormalities, Biomedical Text Mining and Ontologies, Genomics and Phylogenetic Studies
Most-Cited Works
- → The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data(2013)837 cited
- → The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery(2015)482 cited
- → Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine(2016)375 cited
- → PhenoTips: Patient Phenotyping Software for Clinical and Research Use(2013)254 cited
- → PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases(2015)130 cited
- → Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency(2015)111 cited
- → The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles(2015)56 cited
- → Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray(2017)40 cited
- → Phenotyping: Targeting genotype's rich cousin for diagnosis(2014)35 cited
- → Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project(2013)24 cited