List of works - Ségolène Aymé

Abstracts of the 6th European Conference on Rare Diseases and Orphan Products. Brussels, Belgium. May 23-25, 2012

article

CEMARA an information system for rare diseases.

scientific article published on January 2010

Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases.

scientific article published on 19 October 2010

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

scientific article

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

scientific article published in October 2017

Correction: Dispelling myths about rare disease registry system development

scientific article published on 31 January 2014

Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective

scientific article

Dispelling myths about rare disease registry system development

scientific article

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

scientific article

Empowerment of patients: lessons from the rare diseases community

scientific article published on 01 June 2008

Evolution of national and European policies in the field of rare diseases and their impact over the past five years.

scientific article

Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules

scientific article

Genetic information and testing in insurance and employment: technical, social and ethical issues

scientific article published on December 2003

Genetic testing in Europe: transborder testing is a necessity.

scientific article published on 19 October 2010

How to code rare diseases with international terminologies?

scientific article published on 11 November 2014

IRDiRC-recommended

scientific article published on July 2016

In focus. Has patient autonomy gone to far? Geneticists' views in 36 nations

scientific article published on 01 January 2002

Introduction

scientific article published on 01 May 2008

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders ⬇️

scientific article

New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community.

scientific article published on 19 October 2010

Ontological phenotype standards for neurogenetics

scientific article

Orphanet Journal of Rare Diseases: Launch Editorial.

scientific article

Orphanet, an information site on rare diseases

scientific article published in January 2003

Patenting and licensing in genetic testing: ethical, legal, and social issues

Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics

scientific article published in May 2008

Pfizer-sponsored satellite symposium at the European Haemophilia Consortium (EHC) Congress: changing the policy landscape: haemophilia patient involvement in healthcare decision-making

scientific article

Population genetic screening programmes: principles, techniques, practices, and policies

scientific article published on December 2003

Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg-Strauss syndrome in a French urban multiethnic population in 2000: a capture-recapture estimate

scientific article published on February 2004

Provision of genetic services in Europe: current practices and issues

scientific article published on December 2003

Rare disease policies to improve care for patients in Europe

scientific article published on 25 February 2015

Rare diseases and now rare data?

scientific article

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

scientific article

Rare diseases research in Europe: an overview based on data from the Orphanet database.

scientific article published on 19 October 2010

Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11)

scientific article published on 16 March 2017

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL).

scientific article published on 10 March 2017

Report of an international survey of molecular genetic testing laboratories

scientific article published in January 2007

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

scientific article published on 06 April 2012

Reviewer acknowledgement 2013

scientific article published on 28 March 2013

Reviewer acknowledgement 2014

Reviewer acknowledgement 2015

Scope of centres of expertise for rare diseases in European countries where they exist

scientific article published on 22 November 2012

State of the art of services in Europe: where are the problems?

scientific article published on 19 October 2010

The European Union Committee of Experts on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease policy.

scientific article published on 19 October 2010

The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community

scientific article published on 28 February 2014

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

The OrphanAnaesthesia project

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

scientific article

The development of the public and professional policy committee

scientific article published in December 2017

The importance of review articles in making the voice of rare diseases heard: OJRD's 10th anniversary

scientific article published on 28 May 2016

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

scientific article published in May 2006

The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues*

article

The role of biobanking in rare diseases: European consensus expert group report

scientific article published on September 2009

WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art.

scientific article published on 19 October 2010

[Conclusions of the RARE 2017 meeting]

scientific article published on 01 May 2018

[Documentary research and self-instruction. Critical reading of a medical article. Practice guidelines. Part 1: rare diseases]

scientific article published on 01 April 2004

[In Process Citation]

[Rare diseases: 67 reference centers for a cultural revolution?]

scientific article published on 01 March 2006

[State of play of French data collections in the field of rare diseases]

scientific article published on 01 May 2018

[The RARE 2017 meeting from a health professional perspective]

scientific article published on 01 May 2018

List of works by Ségolène Aymé

Abstracts of the 6th European Conference on Rare Diseases and Orphan Products. Brussels, Belgium. May 23-25, 2012

CEMARA an information system for rare diseases.

Classification of rare diseases: a worldwide effort to contribute to the International Classification of Diseases.

Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Correction: Dispelling myths about rare disease registry system development

Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective

Dispelling myths about rare disease registry system development

EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

Empowerment of patients: lessons from the rare diseases community

Evolution of national and European policies in the field of rare diseases and their impact over the past five years.

Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules

Genetic information and testing in insurance and employment: technical, social and ethical issues

Genetic testing in Europe: transborder testing is a necessity.

How to code rare diseases with international terminologies?

IRDiRC-recommended

In focus. Has patient autonomy gone to far? Geneticists' views in 36 nations

Introduction

Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders ⬇️

New functionalities in Orphanet for orphan drugs, R&D and marketing authorisations to better serve the rare diseases community.

Ontological phenotype standards for neurogenetics

Orphanet Journal of Rare Diseases: Launch Editorial.

Orphanet, an information site on rare diseases

Patenting and licensing in genetic testing: ethical, legal, and social issues

Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics

Pfizer-sponsored satellite symposium at the European Haemophilia Consortium (EHC) Congress: changing the policy landscape: haemophilia patient involvement in healthcare decision-making

Population genetic screening programmes: principles, techniques, practices, and policies

Prevalences of polyarteritis nodosa, microscopic polyangiitis, Wegener's granulomatosis, and Churg-Strauss syndrome in a French urban multiethnic population in 2000: a capture-recapture estimate

Provision of genetic services in Europe: current practices and issues

Rare disease policies to improve care for patients in Europe

Rare diseases and now rare data?

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

Rare diseases research in Europe: an overview based on data from the Orphanet database.

Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11)

Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL).

Report of an international survey of molecular genetic testing laboratories

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

Reviewer acknowledgement 2013

Reviewer acknowledgement 2014

Reviewer acknowledgement 2015

Scope of centres of expertise for rare diseases in European countries where they exist

State of the art of services in Europe: where are the problems?

The European Union Committee of Experts on Rare Diseases (EUCERD): a new committee to help the European Commission advance in the field of rare disease policy.

The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community

The Human Phenotype Ontology in 2017

The OrphanAnaesthesia project

The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort

The development of the public and professional policy committee

The importance of review articles in making the voice of rare diseases heard: OJRD's 10th anniversary

The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues

The interface between medically assisted reproduction and genetics: technical, social, ethical and legal issues*

The role of biobanking in rare diseases: European consensus expert group report

WHO International Classification of Diseases (ICD) Revision Process: incorporating rare diseases into the classification scheme: state of art.

[Conclusions of the RARE 2017 meeting]

[Documentary research and self-instruction. Critical reading of a medical article. Practice guidelines. Part 1: rare diseases]

[In Process Citation]

[Rare diseases: 67 reference centers for a cultural revolution?]

[State of play of French data collections in the field of rare diseases]

[The RARE 2017 meeting from a health professional perspective]