Publications by authors named "Marta Girdea"

14Publications

Prioritizing Clinically Relevant Copy Number Variation from Genetic Interactions and Gene Function Data.

PLoS One 2015 5;10(10):e0139656. Epub 2015 Oct 5.

Department of Computer Science, University of Toronto, Toronto, Ontario, Canada; Hospital of Sick Children, Toronto, Ontario, Canada.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139656PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4593641PMC
June 2016

Phenotyping: targeting genotype's rich cousin for diagnosis.

J Paediatr Child Health 2015 Apr 11;51(4):381-6. Epub 2014 Aug 11.

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.12705DOI Listing
April 2015

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

Nucleic Acids Res 2014 Jan 11;42(Database issue):D966-74. Epub 2013 Nov 11.

Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany, Lawrence Berkeley National Laboratory, Mail Stop 84R0171, Berkeley, CA 94720, USA, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK, Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge CB2 2QQ, UK, Université Paul Sabatier, Faculté de Chirurgie Dentaire, CHU Toulouse, France, Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK, Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, MAHSC, Manchester M13 9WL, UK, Institute of Genetic Medicine. Newcastle University, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK, Department of Computer Science, University of Toronto, Ontario, Canada, Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada, Department of Clinical Genetics, Leeds Teaching Hospitals NHS Trust, Leeds LS2 9NS, UK, MRC Human Genetics Unit, MRC Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK, The Jackson Laboratory, Bar Harbor, ME 04609, USA, Center for Molecular and Vascular Biology, University of Leuven, Belgium, Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel Campus, 24105 Kiel, Germany, NE Thames Genetics Service, Great Ormond Street Hospital, London WC1N 3JH, UK, Drexel University College of Medicine, Philadelphia, PA 19102, USA, Department of Haematology, University of Cambridge and NHS Blood and Transplant Cambridge, CB2 0PT Cambridge, UK, Autism and Developmental Medicine Institute, Geisinger Health System

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http://dx.doi.org/10.1093/nar/gkt1026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965098PMC
January 2014

PhenoTips: patient phenotyping software for clinical and research use.

Hum Mutat 2013 Aug 24;34(8):1057-65. Epub 2013 May 24.

Department of Computer Science, University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22347DOI Listing
August 2013

Designing Efficient Spaced Seeds for SOLiD Read Mapping.

Adv Bioinformatics 2010 16. Epub 2010 Sep 16.

INRIA Lille-Nord Europe, LIFL/CNRS, Université Lille 1, 59655 Villeneuve d'Ascq, France.

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http://dx.doi.org/10.1155/2010/708501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2945724PMC
July 2011