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Marta Gîrdea | Researchclopedia

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Marta Gîrdea

University Health Network

29

Works

2,422

Citations

12

h-index

13

i10-index

Research Topics

Genomics and Rare Diseases Cancer Genomics and Diagnostics Genomic variations and chromosomal abnormalities

Affiliations

Centre National de la Recherche Scientifique2010–2010

University Health Network2021–2022

Institut national de recherche en informatique et en automatique2010–2010

Alexandru Ioan Cuza University2007–2008

Laboratoire d'Informatique Fondamentale de Lille2010–2010

Top Works

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

Sebastian Köhler,Sandra C. Doelken,et al.

2013837 citations

Biomedical Text Mining and Ontologies

Genomics and Phylogenetic Studies

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Anthony Philippakis,Danielle R. Azzariti,et al.

2015482 citations

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

Dimitri J. Stavropoulos,Daniele Merico,et al.

2016375 citations

PhenoTips: Patient Phenotyping Software for Clinical and Research Use

Marta Gîrdea,Sergiu Dumitriu,et al.

2013254 citations

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

Orion J. Buske,Marta Gîrdea,et al.

2015130 citations

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

William P. Bone,Nicole Washington,et al.

2015111 citations

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

Orion J. Buske,François Schiettecatte,et al.

201556 citations

Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

Robin Z. Hayeems,Jasmin Bhawra,et al.

201740 citations

Phenotyping: Targeting genotype's rich cousin for diagnosis

Gareth Baynam,Mark Walters,et al.

201435 citations