Publications by authors named "Marta Girdea"

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PhenomeCentral: 7 years of rare disease matchmaking.
Matthew Osmond, Taila Hartley, Brittney Johnstone, Sasha Andjic, Marta Girdea

Hum Mutat· June 2022

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Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.
Robin Z Hayeems, Jasmin Bhawra, Kate Tsiplova, M Stephen Meyn, Nasim Monfared, Marta Girdea

Eur J Hum Genet· December 2017

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Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.
Amanda E Links, David Draper, Elizabeth Lee, Jessica Guzman, Zaheer Valivullah, Marta Girdea

Front Med (Lausanne)· October 2016

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Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.
Justin Foong, Marta Girdea, James Stavropoulos, Michael Brudno

PLoS One· June 2016

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Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.
William P Bone, Nicole L Washington, Orion J Buske, David R Adams, Joie Davis, Marta Girdea

Genet Med· June 2016

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Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Marta Girdea

NPJ Genom Med· January 2016

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PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.
Orion J Buske, Marta Girdea, Sergiu Dumitriu, Bailey Gallinger, Taila Hartley

Hum Mutat· October 2015

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The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
Orion J Buske, François Schiettecatte, Benjamin Hutton, Sergiu Dumitriu, Andriy Misyura, Marta Girdea

Hum Mutat· October 2015

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The Matchmaker Exchange: a platform for rare disease gene discovery.
Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Marta Girdea

Hum Mutat· October 2015

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Phenotyping: targeting genotype's rich cousin for diagnosis.
Gareth Baynam, Mark Walters, Peter Claes, Stefanie Kung, Peter LeSouef, Marta Girdea

J Paediatr Child Health· April 2015

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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Sebastian Köhler, Sandra C Doelken, Christopher J Mungall, Sebastian Bauer, Helen V Firth, Marta Girdea

Nucleic Acids Res· January 2014

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PhenoTips: patient phenotyping software for clinical and research use.
Marta Girdea, Sergiu Dumitriu, Marc Fiume, Sarah Bowdin, Kym M Boycott

Hum Mutat· August 2013

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Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.
William S Oetting, Peter N Robinson, Marc S Greenblatt, Richard G Cotton, Tim Beck, Marta Girdea

Hum Mutat· April 2013

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Designing Efficient Spaced Seeds for SOLiD Read Mapping.
Laurent Noé, Marta Gîrdea, Gregory Kucherov

Adv Bioinformatics· July 2011

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Back-translation for discovering distant protein homologies in the presence of frameshift mutations.
Marta Girdea, Laurent Noe, Gregory Kucherov

Algorithms Mol Biol· January 2010

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