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Author Details

S??gol??ne Aym??
Paris Brain Institute-ICM, Inserm U 7, CNRS UMR 7225, Sorbonne Universite
1974
173
39
PMIDPaper TitleJournal TitlePublished Year
35318776European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.Eur J Neurol2022
36249823Editorial: Prevention, diagnosis and treatment of rare disorders.Front Pharmacol2022
34744718An Objective Approach to Identify Priority Rare Diseases for the Development of Solutions Reducing the Diagnostic Delay Based on French Data.Front Pharmacol2021
29625715[Enforcement of a new data protection law in Europe: A threat and an opportunity for registries and cohorts in the field of rare diseases].Rev Med Interne2018
29911569[Conclusions of the RARE 2017 meeting].Med Sci (Paris)2018
29911549[State of play of French data collections in the field of rare diseases].Med Sci (Paris)2018
29911541[The RARE 2017 meeting from a health professional perspective].Med Sci (Paris)2018
27657686The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.Genet Med2017
28283046Recommendations from the European Working Group for Value Assessment and Funding Processes in Rare Diseases (ORPH-VAL).Orphanet J Rare Dis2017
28086972Fatal anaphylaxis registries data support changes in the who anaphylaxis mortality coding rules.Orphanet J Rare Dis2017
28302183Reaching multidisciplinary consensus on classification of anaphylaxis for the eleventh revision of the World Health Organization's (WHO) International Classification of Diseases (ICD-11).Orphanet J Rare Dis2017
28938953Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.Kidney Int2017
29297879The development of the public and professional policy committee.Eur J Hum Genet2017
27899602The Human Phenotype Ontology in 2017.Nucleic Acids Res2017
27307111IRDiRC-recommended.Eur J Hum Genet2016
27234175The importance of review articles in making the voice of rare diseases heard: OJRD's 10th anniversary.Orphanet J Rare Dis2016
27225337Quantifying benefit-risk preferences for new medicines in rare disease patients and caregivers.Orphanet J Rare Dis2016
27137855[In Process Citation].Med Sci (Paris)2016
25725454Rare disease policies to improve care for patients in Europe.Biochim Biophys Acta2015
25887186Rare diseases in ICD11: making rare diseases visible in health information systems through appropriate coding.Orphanet J Rare Dis2015
24484969Correction: Dispelling myths about rare disease registry system development.Source Code Biol Med2014
24801295Pfizer-sponsored satellite symposium at the European Haemophilia Consortium (EHC) Congress: changing the policy landscape: haemophilia patient involvement in healthcare decision-making.Eur J Haematol Suppl2014
24580800The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community.Orphanet J Rare Dis2014
23981649EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.BMC Pediatr2013
24131574Dispelling myths about rare disease registry system development.Source Code Biol Med2013
23821785Rare diseases and now rare data?Nat Rev Genet2013
22422702Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users.Hum Mutat2012
22483772[Introduction and welcome message].Presse Med2012
22483769[Precompetitive tools and resources for leveraging R&D in Europe].Presse Med2012
22480855[Conclusions of RARE 2011 and prospects for RARE 2013].Presse Med2012
22573485Ontological phenotype standards for neurogenetics.Hum Mutat2012
21496291Limitations of drug registries to evaluate orphan medicinal products for the treatment of lysosomal storage disorders.Orphanet J Rare Dis2011
21912238The OrphanAnaesthesia project.Eur J Anaesthesiol2011
19945282Coenzyme Q10 is frequently reduced in muscle of patients with mitochondrial myopathy.Neuromuscul Disord2010
20841733CEMARA an information system for rare diseases.Stud Health Technol Inform2010
19839476[Documentary research and self instruction. Rare diseases].Rev Prat2009
24835882The role of biobanking in rare diseases: European consensus expert group report.Biopreserv Biobank2009
17942587Rare diseases in disabled children: an epidemiological survey.Arch Dis Child2008
18557182Patenting and licensing in genetic testing: ethical, legal, and social issues.Eur J Hum Genet2008
18555918Empowerment of patients: lessons from the rare diseases community.Lancet2008
18487707CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.Stud Health Technol Inform2008
18356259Prevalence of vernal keratoconjunctivitis: a rare disease?Br J Ophthalmol2008
18432281Patenting and licensing in genetic testing: recommendations of the European Society of Human Genetics.Eur J Hum Genet2008
18432280Introduction.Eur J Hum Genet2008
17575456Report of an international survey of molecular genetic testing laboratories.Community Genet2007
18026888Networking for rare diseases: a necessity for Europe.Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz2007
16609636[Use of a directory of specialized services and guidance in the healthcare system: the example of the Orphanet database for rare diseases].Rev Epidemiol Sante Publique2006
16636693The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.Eur J Hum Genet2006
16550144[Rare diseases: 67 reference centers for a cultural revolution?].Presse Med2006
16012380[Access to medical information on the Internet: inequality observed in the site audience].Rev Epidemiol Sante Publique2005
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Collaborators

Ana Rath
INSERM
Co-authored papers 7
Hugh Dawkins
The University of Notre Dame Australia
Co-authored papers 5
Gareth Baynam
King Edward Memorial Hospital
Co-authored papers 4
Tarun Weeramanthri
University of Western Australia
Co-authored papers 3
Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 3
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 2
Peter N Robinson
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 2
Stylianos E Antonarakis
Co-authored papers 2
Annie Olry
INSERM
Co-authored papers 2
Sebastian K??hler
Division of Emergency Medicine University of Calgary Calgary Alberta Canada.
Co-authored papers 2
Franz Schaefer
University Children's Hospital Heidelberg
Co-authored papers 2
Mats G Hansson
Centre for Research Ethics & Bioethics, Uppsala University
Co-authored papers 1
Ferdinand Dhombres
Armand Trousseau Hospital, Sorbonne University
Co-authored papers 1
Trinity Mahede
Co-authored papers 1
Maurizio Leone
Co-authored papers 1
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 1
Domenica Taruscio
National Center for Rare Diseases, Istituto Superiore di Sanita
Co-authored papers 1
Laureen E Connell
Co-authored papers 1
Soichi Ogishima
Tohoku University Graduate School of Medicine
Co-authored papers 1
Yann Le Cam
Co-authored papers 1
Eric Courchesne
University of California
Co-authored papers 1
Valentina Cipriani
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Johanna A J??hn
Christian-Albrechts-University of Kiel
Co-authored papers 1
Damian Smedley
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Roland Krause
University of Luxembourg
Co-authored papers 1
Ernest Turro
Icahn School of Medicine at Mount Sinai
Co-authored papers 1
Julius O B Jacobsen
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 1
Kym M Boycott
Children's Hospital of Eastern Ontario
Co-authored papers 1
Cathy Turner
Institute of Genetic Medicine, Newcastle University International Centre for Life
Co-authored papers 1
Angela E Lin
MassGeneral Hospital for Children
Co-authored papers 1
Release 1.2