Ana Rath

Ana Rath

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Ana Rath

Ana Rath

Publications by authors named "Ana Rath"

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Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 Aug 15;14(1):200. Epub 2019 Aug 15.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1186/s13023-019-1156-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696684PMC
August 2019

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 Jan;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

An ontological foundation for ocular phenotypes and rare eye diseases.

Orphanet J Rare Dis 2019 01 9;14(1). Epub 2019 Jan 9.

Centre for Rare Eye Diseases CARGO, SENSGENE FSMR Network, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1186/s13023-018-0980-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327432PMC
January 2019

Harmonising phenomics information for a better interoperability in the rare disease field.

Eur J Med Genet 2018 Nov 7;61(11):706-714. Epub 2018 Feb 7.

INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.013DOI Listing
November 2018

Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Clin Transl Sci 2018 01 23;11(1):11-20. Epub 2017 Oct 23.

National Center for Advancing Translational Sciences (NCATS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cts.12501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5759730PMC
January 2018

Evidence-based clinical practice: Overview of threats to the validity of evidence and how to minimise them.

Eur J Intern Med 2016 Jul 6;32:13-21. Epub 2016 May 6.

The Copenhagen Trial Unit, Centre for Clinical Intervention Research, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.ejim.2016.03.020DOI Listing
July 2016

Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding.

Orphanet J Rare Dis 2015 Mar 26;10:35. Epub 2015 Mar 26.

INSERM, US14 - Orphanet, Paris, France, Rare Diseases Platform, 96 rue Didot, Paris, France.

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http://dx.doi.org/10.1186/s13023-015-0251-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377208PMC
March 2015

Ontological phenotype standards for neurogenetics.

Hum Mutat 2012 Sep 2;33(9):1333-9. Epub 2012 Jul 2.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1002/humu.22112DOI Listing
September 2012

Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.

Hum Mutat 2012 May 6;33(5):803-8. Epub 2012 Apr 6.

Orphanet, Institut National de la Santé et de la Recherche Médicale US14, 96 rue Didot,Paris, France.

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http://dx.doi.org/10.1002/humu.22078DOI Listing
May 2012

CEMARA an information system for rare diseases.

Stud Health Technol Inform 2010 ;160(Pt 1):481-5

Paris Descartes University, Faculty of Medicine, AP-HP, EA 4067, Department of biostatistics and computer sciences, and Department of genetics, Dermatology unit Necker-Enfants Malades Hospital, Paris, France.

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December 2010

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Stud Health Technol Inform 2008 ;136:51-6

Paris Descartes University, UPRESS EA 4067 and Service de Biostatistique et d'Informatique Médicale, APHP - Necker-Enfants Malades Hospital, Paris - France.

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September 2008