Literature DB >> 35079160

Research on rare diseases: ten years of progress and challenges at IRDiRC.

Lucia Monaco, Galliano Zanello, Gareth Baynam, Anneliene H Jonker, Daria Julkowska, Adam L Hartman, Daniel O'Connor, Chiuhui Mary Wang, Durhane Wong-Rieger, David A Pearce.   

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Year:  2022        PMID： 35079160     DOI： 10.1038/d41573-022-00019-z

Source DB:  PubMed          Journal:  Nat Rev Drug Discov        ISSN： 1474-1776            Impact factor:   84.694


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  5 in total

1.  'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.

Authors:  Hanns Lochmüller; Yann Le Cam; Anneliene H Jonker; Lilian Pl Lau; Gareth Baynam; Petra Kaufmann; Paul Lasko; Hugh Js Dawkins; Christopher P Austin; Kym M Boycott
Journal:  Eur J Hum Genet       Date:  2016-10-26       Impact factor: 4.246

Review 2.  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 3.  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

4.  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

5.  Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.

Authors:  Stéphanie Nguengang Wakap; Deborah M Lambert; Annie Olry; Charlotte Rodwell; Charlotte Gueydan; Valérie Lanneau; Daniel Murphy; Yann Le Cam; Ana Rath
Journal:  Eur J Hum Genet       Date:  2019-09-16       Impact factor: 4.246
  5 in total
  1 in total

1.  Advancing qualitative rare disease research methodology: a comparison of virtual and in-person focus group formats.

Authors:  Andrew A Dwyer; Melissa Uveges; Samantha Dockray; Neil Smith
Journal:  Orphanet J Rare Dis       Date:  2022-09-11       Impact factor: 4.303
  1 in total

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