Literature DB >> 22025002

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

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.   

Abstract

Mesh：

Year:  2011        PMID： 22025002     DOI： 10.1038/nrg3011-c1

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  10 in total

1.  The case for a global rare-diseases registry.

Authors:  Christopher B Forrest; Ronald J Bartek; Yaffa Rubinstein; Stephen C Groft
Journal:  Lancet       Date:  2010-07-30       Impact factor: 79.321

2.  What is the human variome project?

Authors: 
Journal:  Nat Genet       Date:  2007-04       Impact factor: 38.330

3.  The case for locus-specific databases.

Authors:  Mark E Samuels; Guy A Rouleau
Journal:  Nat Rev Genet       Date:  2011-05-04       Impact factor: 53.242

4.  Rare-disease project has global ambitions.

Authors:  Alison Abbott
Journal:  Nature       Date:  2011-04-07       Impact factor: 49.962

5.  China spurs quest for human variome.

Authors:  David Cyranoski
Journal:  Nature       Date:  2011-01-27       Impact factor: 49.962

6.  How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010.

Authors:  Maija R J Kohonen-Corish; Jumana Y Al-Aama; Arleen D Auerbach; Myles Axton; Carol Isaacson Barash; Inge Bernstein; Christophe Béroud; John Burn; Fiona Cunningham; Garry R Cutting; Johan T den Dunnen; Marc S Greenblatt; Jim Kaput; Michael Katz; Annika Lindblom; Finlay Macrae; Donna Maglott; Gabriela Möslein; Sue Povey; Raj Ramesar; Sue Richards; Daniela Seminara; María-Jesús Sobrido; Sean Tavtigian; Graham Taylor; Mauno Vihinen; Ingrid Winship; Richard G H Cotton
Journal:  Hum Mutat       Date:  2010-12       Impact factor: 4.878

7.  Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB).

Authors:  Yaffa R Rubinstein; Stephen C Groft; Ronald Bartek; Kyle Brown; Ronald A Christensen; Elaine Collier; Amy Farber; Jennifer Farmer; John H Ferguson; Christopher B Forrest; Nicole C Lockhart; Kate R McCurdy; Helen Moore; Geraldine B Pollen; Rachel Richesson; Vanessa Rangel Miller; Sara Hull; Jim Vaught
Journal:  Contemp Clin Trials       Date:  2010-07-08       Impact factor: 2.226

8.  Pompe disease: design, methodology, and early findings from the Pompe Registry.

Authors:  Barry J Byrne; Priya S Kishnani; Laura E Case; Luciano Merlini; Wolfgang Müller-Felber; Suyash Prasad; Ans van der Ploeg
Journal:  Mol Genet Metab       Date:  2011-02-11       Impact factor: 4.797

9.  Recommendations of the 2006 Human Variome Project meeting.

Authors:  Richard G H Cotton; William Appelbe; Arleen D Auerbach; Kevin Becker; Walter Bodmer; D Joe Boone; Victor Boulyjenkov; Samir Brahmachari; Lawrence Brody; Anthony Brookes; Alastair F Brown; Peter Byers; Jose Maria Cantu; Jean-Jacques Cassiman; Mireille Claustres; Patrick Concannon; Richard G H Cotton; Johan T den Dunnen; Paul Flicek; Richard Gibbs; Judith Hall; Julia Hasler; Michael Katz; Pui-Yan Kwok; Sandrine Laradi; Annika Lindblom; Donna Maglott; Steven Marsh; Collen Muto Masimirembwa; Shinsei Minoshima; Ana Maria Oller de Ramirez; Roberta Pagon; Raj Ramesar; David Ravine; Sue Richards; David Rimoin; Huijun Z Ring; Charles R Scriver; Stephen Sherry; Nobuyoshi Shimizu; Lincoln Stein; Ghazi Omar Tadmouri; Graham Taylor; Michael Watson
Journal:  Nat Genet       Date:  2007-04       Impact factor: 38.330

10.  Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project.

Authors:  Richard G H Cotton; Aida I Al Aqeel; Fahd Al-Mulla; Paola Carrera; Mireille Claustres; Rosemary Ekong; Valentine J Hyland; Finlay A Macrae; Makia J Marafie; Mark H Paalman; George P Patrinos; Ming Qi; Rajkumar S Ramesar; Rodney J Scott; Rolf H Sijmons; María-Jesús Sobrido; Mauno Vihinen
Journal:  Genet Med       Date:  2009-12       Impact factor: 8.822
  10 in total
  1 in total

Review 1.  Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases.

Authors:  Thierry Soussi; Panagiotis Baliakas
Journal:  Front Oncol       Date:  2022-02-16       Impact factor: 6.244
  1 in total

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