Literature DB >> 21475168

Rare-disease project has global ambitions.

Alison Abbott.   

Abstract

Mesh：

Year:  2011        PMID： 21475168     DOI： 10.1038/472017a

Source DB:  PubMed          Journal:  Nature        ISSN： 0028-0836            Impact factor:   49.962


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  10 in total

1.  Mutation (variation) databases and registries: a rationale for coordination of efforts.

Authors:  Arleen D Auerbach; John Burn; Jean-Jacques Cassiman; Mireille Claustres; Richard G H Cotton; Garry Cutting; Johan T den Dunnen; Mona El-Ruby; Aida Falcon Vargas; Marc S Greenblatt; Finlay Macrae; Yoichi Matsubara; David L Rimoin; Mauno Vihinen; Christine Van Broeckhoven
Journal:  Nat Rev Genet       Date:  2011-10-25       Impact factor: 53.242

2.  Medical research: Next decade's goals for rare diseases.

Authors:  Christopher P Austin; Hugh J S Dawkins
Journal:  Nature       Date:  2017-08-09       Impact factor: 49.962

3.  Towards an Ecology of Collective Innovation: Human Variome Project (HVP), Rare Disease Consortium for Autosomal Loci (RaDiCAL) and Data-Enabled Life Sciences Alliance (DELSA).

Authors:  Vural Ozdemir; David S Rosenblatt; Louise Warnich; Sanjeeva Srivastava; Ghazi O Tadmouri; Ramy K Aziz; Panga Jaipal Reddy; Aresha Manamperi; Edward S Dove; Yann Joly; Ma'n H Zawati; Candan Hızel; Yasemin Yazan; Leela John; Emmanuelle Vaast; Adam S Ptolemy; Samer A Faraj; Eugene Kolker; Richard G H Cotton
Journal:  Curr Pharmacogenomics Person Med       Date:  2011-12-01

Review 4.  Amyloidosis in alkaptonuria.

Authors:  Lia Millucci; Daniela Braconi; Giulia Bernardini; Pietro Lupetti; Josef Rovensky; Lakshminaryan Ranganath; Annalisa Santucci
Journal:  J Inherit Metab Dis       Date:  2015-04-14       Impact factor: 4.982

5.  Introduction to bioinformatics: sequencing technology.

Authors:  Soyeon Ahn
Journal:  Asia Pac Allergy       Date:  2011-06-30

Review 6.  The role of microRNAs in the biology of rare diseases.

Authors:  Marco Salvatore; Armando Magrelli; Domenica Taruscio
Journal:  Int J Mol Sci       Date:  2011-10-11       Impact factor: 5.923

Review 7.  Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.

Authors:  Christopher P Austin; Christine M Cutillo; Lilian P L Lau; Anneliene H Jonker; Ana Rath; Daria Julkowska; David Thomson; Sharon F Terry; Béatrice de Montleau; Diego Ardigò; Virginie Hivert; Kym M Boycott; Gareth Baynam; Petra Kaufmann; Domenica Taruscio; Hanns Lochmüller; Makoto Suematsu; Carlo Incerti; Ruxandra Draghia-Akli; Irene Norstedt; Lu Wang; Hugh J S Dawkins
Journal:  Clin Transl Sci       Date:  2017-10-23       Impact factor: 4.689

Review 8.  Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective.

Authors:  Hugh J S Dawkins; Ruxandra Draghia-Akli; Paul Lasko; Lilian P L Lau; Anneliene H Jonker; Christine M Cutillo; Ana Rath; Kym M Boycott; Gareth Baynam; Hanns Lochmüller; Petra Kaufmann; Yann Le Cam; Virginie Hivert; Christopher P Austin
Journal:  Clin Transl Sci       Date:  2017-10-23       Impact factor: 4.689

9.  The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force.

Authors:  Noel T Southall; Madhusudan Natarajan; Lilian Pek Lian Lau; Anneliene Hechtelt Jonker; Benoît Deprez; Tim Guilliams; Lawrence Hunter; Carin Ma Rademaker; Virginie Hivert; Diego Ardigò
Journal:  Orphanet J Rare Dis       Date:  2019-10-15       Impact factor: 4.123

10.  The International Rare Diseases Research Consortium: Policies and Guidelines to maximize impact.

Authors:  Hanns Lochmüller; Josep Torrent I Farnell; Yann Le Cam; Anneliene H Jonker; Lilian Pl Lau; Gareth Baynam; Petra Kaufmann; Hugh Js Dawkins; Paul Lasko; Christopher P Austin; Kym M Boycott
Journal:  Eur J Hum Genet       Date:  2017-11-20       Impact factor: 4.246
  10 in total

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