Publications by authors named "Ana Rath"

28Publications

Reply to E. Vicente et al.

Eur J Hum Genet 2020 Dec 1. Epub 2020 Dec 1.

Eurordis - Rare Diseases Europe, Plateforme Maladies Rares, Paris, France.

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December 2020

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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August 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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January 2019

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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January 2018

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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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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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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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