Publications by authors named "Annie Olry"

13Publications

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

Genet Med 2020 Aug 5;22(8):1391-1400. Epub 2020 May 5.

Centre for Computational Medicine, The Hospital For Sick Children, Toronto, ON, Canada.

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http://dx.doi.org/10.1038/s41436-020-0812-7DOI Listing
August 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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http://dx.doi.org/10.1186/s13023-019-1156-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696684PMC
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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http://dx.doi.org/10.1186/s13023-018-0980-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327432PMC
January 2019

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

Nucleic Acids Res 2019 01;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

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

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

Generation and characterization of mutant cell lines defective in gamma-secretase processing of Notch and amyloid precursor protein.

J Biol Chem 2005 Aug 15;280(31):28564-71. Epub 2005 Jun 15.

Unité de Signalisation Moléculaire et Activation Cellulaire, URA 2582, CNRS, Institut Pasteur, 25 Rue du Dr. Roux, 75724 Paris Cedex 15, France.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M502199200
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http://dx.doi.org/10.1074/jbc.M502199200DOI Listing
August 2005

Monoubiquitination and endocytosis direct gamma-secretase cleavage of activated Notch receptor.

J Cell Biol 2004 Jul;166(1):73-83

Unité de Biologie Moléculaire de l'Expression Génique, URA 2582, CNRS, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris Cedex 15, France.

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http://www.jcb.org/lookup/doi/10.1083/jcb.200310098
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http://dx.doi.org/10.1083/jcb.200310098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172142PMC
July 2004