Author details

Full Name

Ana Rath

Affiliation

INSERM

ORCID

Career Start Year

2008

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37926714	Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.	Eur J Hum Genet	2024
37926714	Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report.	Eur J Hum Genet	2024
37066232	Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.	medRxiv	2023
37386449	Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.	Orphanet J Rare Dis	2023
37066232	Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.	medRxiv	2023
37386449	Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders.	Orphanet J Rare Dis	2023
35507016	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.	Genet Med	2022
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
33262444	Reply to E. Vicente et al.	Eur J Hum Genet	2021
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
31527858	Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.	Eur J Hum Genet	2020
32020066	How many rare diseases are there?	Nat Rev Drug Discov	2020
32366968	Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.	Genet Med	2020
32555415	Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.	Genet Med	2020
34367618	The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.	F1000Res	2020
31527858	Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.	Eur J Hum Genet	2020
34367618	The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research.	F1000Res	2020
32020066	How many rare diseases are there?	Nat Rev Drug Discov	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
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
30626441	An ontological foundation for ocular phenotypes and rare eye diseases.	Orphanet J Rare Dis	2019
31416457	Correction to: An ontological foundation for ocular phenotypes and rare eye diseases.	Orphanet J Rare Dis	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
28796411	Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.	Clin Transl Sci	2018
28796445	Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.	Clin Transl Sci	2018
28796411	Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.	Clin Transl Sci	2018
29425702	Harmonising phenomics information for a better interoperability in the rare disease field.	Eur J Med Genet	2018
29632381	Plain-language medical vocabulary for precision diagnosis.	Nat Genet	2018
29632381	Plain-language medical vocabulary for precision diagnosis.	Nat Genet	2018
29425702	Harmonising phenomics information for a better interoperability in the rare disease field.	Eur J Med Genet	2018
28796445	Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.	Clin Transl Sci	2018
27657686	The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.	Genet Med	2017
28903769	Specific barriers to the conduct of randomised clinical trials on medical devices.	Trials	2017
28764809	Barriers to the conduct of randomised clinical trials within all disease areas.	Trials	2017
28893297	Evidence-based practice within nutrition: what are the barriers for improving the evidence and how can they be dealt with?	Trials	2017
28475856	International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.	Am J Hum Genet	2017
28440796	The importance of international collaboration for rare diseases research: a European perspective.	Gene Ther	2017
29214566	Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework.	Adv Exp Med Biol	2017
29166947	A systematic literature review of evidence-based clinical practice for rare diseases: what are the perceived and real barriers for improving the evidence and how can they be overcome?	Trials	2017
27899602	The Human Phenotype Ontology in 2017.	Nucleic Acids Res	2017
27657686	The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.	Genet Med	2017
28099516	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.	PLoS One	2017
28440796	The importance of international collaboration for rare diseases research: a European perspective.	Gene Ther	2017
28475856	International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.	Am J Hum Genet	2017
28099516	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database.	PLoS One	2017

1 - 50 of 70

Alba Guti??rrez-Sacrist??n

Harvard Medical School

Career Start Year 2015

Number of shared co-authors 3

Simon Lin

The Abigail Wexner Research Institute, Nationwide Children's Hospital

Career Start Year 2015

Number of shared co-authors 0

Rajaram Kaliyaperumal

Leiden University Medical Center

Career Start Year 2015

Number of shared co-authors 30

Julian Varghese

Hopp Children's Cancer Center (KiTZ)

Career Start Year 2015

Number of shared co-authors 0

Helene Cederroth

Wilhelm Foundation

Career Start Year 2015

Number of shared co-authors 18

Eleanor G Seaby

University of Southampton

Career Start Year 2014

Number of shared co-authors 24

Lisa Bastarache

Vanderbilt University Medical Center

Career Start Year 2009

Number of shared co-authors 2

Ning Shang

Columbia University Irving Medical Center

Career Start Year 2008

Number of shared co-authors 3

Anne R Pariser

National Center for Advancing Translational Sciences, National Institutes of Health

Career Start Year 2008

Number of shared co-authors 11

Paul Avillach

Harvard Medical School

Career Start Year 2007

Number of shared co-authors 41

Katherine R Smith

Walter and Eliza Hall Institute of Medical Research

Career Start Year 2005

Number of shared co-authors 18

Janey Wang

Vanderbilt University Medical Center

Career Start Year 2005

Number of shared co-authors 1

Joel B Krier

Brigham and Women's Hospital

Career Start Year 2005

Number of shared co-authors 29

Jos?? Lu??s Oliveira

University of Aveiro

Career Start Year 2002

Number of shared co-authors 8

Heidi Cope

GenOmics and Translational Research Center

Career Start Year 2002

Number of shared co-authors 7

Victoria Nembaware

University of Cape Town

Career Start Year 2002

Number of shared co-authors 4

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 15

Joshua C Denny

Vanderbilt University

Career Start Year 2000

Number of shared co-authors 8

Georgios V Gkoutos

Institute of Cancer and Genomic Sciences, University of Birmingham

Career Start Year 2000

Number of shared co-authors 30

N??ria Queralt-Rosinach

Leiden University Medical Center

Career Start Year 1999

Number of shared co-authors 35

Lynn M Schriml

University of Maryland School of Medicine, Institute for Genome Sciences

Career Start Year 1998

Number of shared co-authors 28

Marcel de Wilde

Erasmus University Medical Center

Career Start Year 1997

Number of shared co-authors 0

Antoine Neuraz

INSERM UMR 3, Universite Paris Cite, Imagine Institute

Career Start Year 1994

Number of shared co-authors 0

Yaffa Rubinstein

National Institutes of Health (NIH)

Career Start Year 1992

Number of shared co-authors 19

Martin Boeker

Institute of AI and Informatics in Medicine, Technical University of Munich

Career Start Year 1992

Number of shared co-authors 4

Manuel Posada

Institute of Rare Diseases Research, Instituto de Salud Carlos III

Career Start Year 1986

Number of shared co-authors 29

Marc S Williams

University of Washington Medical Center

Career Start Year 1985

Number of shared co-authors 48

Isaac S Kohane

Harvard Medical School

Career Start Year 1983

Number of shared co-authors 15

Yves A Lussier

Center for Biomedical Informatics and Biostatistics, University of Arizona

Career Start Year 1971

Number of shared co-authors 2

row(s) 1 - 29 of 29

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 14

Annie Olry

INSERM

Co-authored papers 13

Gareth Baynam

King Edward Memorial Hospital

Co-authored papers 10

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 8

Hugh Dawkins

The University of Notre Dame Australia

Co-authored papers 8

S??gol??ne Aym??

Paris Brain Institute-ICM, Inserm U 7, CNRS UMR 7225, Sorbonne Universite

Co-authored papers 7

Michael Brudno

University of Toronto

Co-authored papers 7

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 6

Marc Hanauer

INSERM

Co-authored papers 6

Tudor Groza

Perth Children's Hospital

Co-authored papers 6

Melissa A Haendel

Co-authored papers 6

Hanns Lochm??ller

Children's Hospital of Eastern Ontario Research Institute

Co-authored papers 6

Julie A McMurry

University of Colorado - Anschutz Medical Campus

Co-authored papers 5

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 5

Kym M Boycott

Children's Hospital of Eastern Ontario

Co-authored papers 5

Rachel Thompson

Children's Hospital of Eastern Ontario Research Institute

Co-authored papers 5

Edmund Neugebauer

Center for Health Services Research, Brandenburg Medical School Theodor Fontane

Co-authored papers 5

Jacques Demotes-Mainard

The European Clinical Research Infrastructure Network (ECRIN)