Author details

Full Name

Annie Olry

Affiliation

INSERM

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35507016	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.	Genet Med	2022
33262444	Reply to E. Vicente et al.	Eur J Hum Genet	2021
31527858	Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.	Eur J Hum Genet	2020
32555415	Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.	Genet Med	2020
32366968	Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.	Genet Med	2020
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
31416457	Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.	Orphanet J Rare Dis	2019
30626441	An ontological foundation for ocular phenotypes and rare eye diseases.	Orphanet J Rare Dis	2019
29425702	Harmonising phenomics information for a better interoperability in the rare disease field.	Eur J Med Genet	2018
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
28475856	International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.	Am J Hum Genet	2017
29214566	Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.	Adv Exp Med Biol	2017
22422702	Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.	Hum Mutat	2012
15958385	Generation and characterization of mutant cell lines defective in gamma-secretase processing of Notch and amyloid precursor protein.	J Biol Chem	2005
15240571	Monoubiquitination and endocytosis direct gamma-secretase cleavage of activated Notch receptor.	J Cell Biol	2004

1 - 15 of 15

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 24

Matthew Might

Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham

Career Start Year 2014

Number of shared co-authors 23

Leslie Matalonga

The Barcelona Institute of Science and Technology

Career Start Year 2012

Number of shared co-authors 28

Erika Souche

Center for Human Genetics

Career Start Year 2010

Number of shared co-authors 8

Matthias Haimel

University of Cambridge

Career Start Year 2009

Number of shared co-authors 25

Angela Del Pozo

Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz

Career Start Year 2008

Number of shared co-authors 3

Catherine A Brownstein

Harvard Medical School.

Career Start Year 2008

Number of shared co-authors 44

Nara Sobreira

Johns Hopkins University

Career Start Year 2006

Number of shared co-authors 32

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Career Start Year 2005

Number of shared co-authors 18

Tommaso Mazza

Fondazione IRCCS Casa Sollievo della Sofferenza,71013

Career Start Year 2005

Number of shared co-authors 0

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 6

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 20

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Career Start Year 2001

Number of shared co-authors 32

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 8

Laura I Furlong

Hospital del Mar Research Institute (IMIM), Pompeu Fabra University (UPF)

Career Start Year 2000

Number of shared co-authors 5

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 13

Georgios V Gkoutos

Institute of Cancer and Genomic Sciences, University of Birmingham

Career Start Year 2000

Number of shared co-authors 26

Marielle E van Gijn

University Medical Center Groningen

Career Start Year 1999

Number of shared co-authors 31

Steffen M??ller

Rostock University Medical Center

Career Start Year 1999

Number of shared co-authors 2

Lynn M Schriml

University of Maryland School of Medicine, Institute for Genome Sciences

Career Start Year 1998

Number of shared co-authors 24

Michael R Barnes

William Harvey Research Institute, Queen Mary University of London

Career Start Year 1997

Number of shared co-authors 19

Jenny C Taylor

University of Oxford

Career Start Year 1996

Number of shared co-authors 24

Elizabeth A Worthey

Heersink School of Medicine, The University of Alabama at Birmingham

Career Start Year 1995

Number of shared co-authors 10

Juli??n Nevado

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 28

Rafa?? P??oski

Medical University of Warsaw

Career Start Year 1992

Number of shared co-authors 3

Yaffa Rubinstein

National Institutes of Health (NIH)

Career Start Year 1992

Number of shared co-authors 18

S??ren Brunak

Novo Nordisk Foundation Center for Protein Research, University of Copenhagen

Career Start Year 1988

Number of shared co-authors 7

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 27

Manuel Posada

Institute of Rare Diseases Research, Instituto de Salud Carlos III

Career Start Year 1986

Number of shared co-authors 26

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 18

row(s) 1 - 30 of 30

Ana Rath

INSERM

Co-authored papers 13

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 9

Michael Brudno

University of Toronto

Co-authored papers 7

Rachel Thompson

Children's Hospital of Eastern Ontario Research Institute

Co-authored papers 5

Hanns Lochm??ller

Children's Hospital of Eastern Ontario Research Institute

Co-authored papers 4

Panagiotis I Sergouniotis

University of Manchester

Co-authored papers 4

Tudor Groza

Perth Children's Hospital

Co-authored papers 4

Gareth Baynam

King Edward Memorial Hospital

Co-authored papers 4

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 3

Willie H Chang

The Hospital For Sick Children

Co-authored papers 3

Hugh Dawkins

The University of Notre Dame Australia

Co-authored papers 3

Marc Hanauer

INSERM

Co-authored papers 3

Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center