Literature DB >> 20674966

The case for a global rare-diseases registry.

Christopher B Forrest1, Ronald J Bartek, Yaffa Rubinstein, Stephen C Groft.   

Abstract

Mesh：

Year:  2010        PMID： 20674966     DOI： 10.1016/S0140-6736(10)60680-0

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  29 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.  Down syndrome: national conference on patient registries, research databases, and biobanks.

Authors:  Mary Lou Oster-Granite; Melissa A Parisi; Leonard Abbeduto; Dorit S Berlin; Cathy Bodine; Dana Bynum; George Capone; Elaine Collier; Dan Hall; Lisa Kaeser; Petra Kaufmann; Jeffrey Krischer; Michelle Livingston; Linda L McCabe; Jill Pace; Karl Pfenninger; Sonja A Rasmussen; Roger H Reeves; Yaffa Rubinstein; Stephanie Sherman; Sharon F Terry; Michelle Sie Whitten; Stephen Williams; Edward R B McCabe; Yvonne T Maddox
Journal:  Mol Genet Metab       Date:  2011-07-13       Impact factor: 4.797

Review 3.  Rare diseases research in China: Opportunities, challenges, and solutions.

Authors:  Jinxiang Han; Yazhou Cui; Xiaoyan Zhou
Journal:  Intractable Rare Dis Res       Date:  2012-02

Review 4.  Position statement of the World Heart Federation on the prevention and control of rheumatic heart disease.

Authors:  Bo Remenyi; Jonathan Carapetis; Rosemary Wyber; Kathryn Taubert; Bongani M Mayosi
Journal:  Nat Rev Cardiol       Date:  2013-04-02       Impact factor: 32.419

5.  Rare diseases research: expanding collaborative translational research opportunities.

Authors:  Stephen C Groft
Journal:  Chest       Date:  2013-07       Impact factor: 9.410

6.  If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD).

Authors:  James E Hilbert; John T Kissel; Elizabeth A Luebbe; William B Martens; Michael P McDermott; Donald B Sanders; Rabi Tawil; Charles A Thornton; Richard T Moxley
Journal:  Contemp Clin Trials       Date:  2011-11-26       Impact factor: 2.226

7.  NIH/NCATS/GRDR® Common Data Elements: A leading force for standardized data collection.

Authors:  Yaffa R Rubinstein; Pamela McInnes
Journal:  Contemp Clin Trials       Date:  2015-03-20       Impact factor: 2.226

8.  Using registries to recruit subjects for clinical trials.

Authors:  Meng H Tan; Matthew Thomas; Mark P MacEachern
Journal:  Contemp Clin Trials       Date:  2014-12-26       Impact factor: 2.226

Review 9.  Can outcomes in Duchenne muscular dystrophy be improved by public reporting of data?

Authors:  Michele A Scully; Valerie A Cwik; Bruce C Marshall; Emma Ciafaloni; Jodi M Wolff; Thomas S Getchius; Robert C Griggs
Journal:  Neurology       Date:  2013-02-05       Impact factor: 9.910

10.  A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research.

Authors:  Rémy Choquet; Meriem Maaroufi; Albane de Carrara; Claude Messiaen; Emmanuel Luigi; Paul Landais
Journal:  J Am Med Inform Assoc       Date:  2014-07-18       Impact factor: 4.497
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