Marta Gîrdea

The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

Sebastian Köhler, Sandra C. Doelken, Chris Mungall et al. · Nucleic Acids Research · 2013 · 837 citations · Full text

Medicine, Biomedical Informatics, Pathology +14

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis, Danielle R. Azzariti, Sergi Beltrán et al. · Human Mutation · 2015 · 488 citations · Full text

Life Sciences, Bioinformatics, Genetics +13

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Marta Gîrdea, Sergiu Dumitriu, Marc Fiume et al. · Human Mutation · 2013 · 258 citations · Full text

Medicine, Biomedical Informatics, Health Informatics +14

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Orion J. Buske, Marta Gîrdea, Sergiu Dumitriu et al. · Human Mutation · 2015 · 131 citations · Full text

Life Sciences, Bioinformatics, Genetics +17