Literature DB >> 22363095

Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.

John-Paul Plazzer1, Johan T den Dunnen, Timothy Smith, Finlay Macrae, Richard G Cotton.   

Abstract

Year:  2012        PMID： 22363095      PMCID： PMC3284340     

Source DB:  PubMed          Journal:  Clin Biochem Rev        ISSN： 0159-8090


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  14 in total

Review 1.  DNA, diseases and databases: disastrously deficient.

Authors:  George P Patrinos; Anthony J Brookes
Journal:  Trends Genet       Date:  2005-06       Impact factor: 11.639

2.  Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

Authors:  Martin Wildeman; Ernest van Ophuizen; Johan T den Dunnen; Peter E M Taschner
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

3.  Recommendations for locus-specific databases and their curation.

Authors:  R G H Cotton; A D Auerbach; J S Beckmann; O O Blumenfeld; A J Brookes; A F Brown; P Carrera; D W Cox; B Gottlieb; M S Greenblatt; P Hilbert; H Lehvaslaiho; P Liang; S Marsh; D W Nebert; S Povey; S Rossetti; C R Scriver; M Summar; D R Tolan; I C Verma; M Vihinen; J T den Dunnen
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

4.  Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases.

Authors:  Mireille Claustres; Ourania Horaitis; Marijana Vanevski; Richard G H Cotton
Journal:  Genome Res       Date:  2002-05       Impact factor: 9.043

5.  Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010.

Authors:  Maija R J Kohonen-Corish; Finlay Macrae; Maurizio Genuardi; Stefan Aretz; Bharati Bapat; Inge T Bernstein; John Burn; Richard G H Cotton; Johan T den Dunnen; Thierry Frebourg; Marc S Greenblatt; Robert Hofstra; Elke Holinski-Feder; Ilkka Lappalainen; Annika Lindblom; Donna Maglott; Pål Møller; Hans Morreau; Gabriela Möslein; Rolf Sijmons; Amanda B Spurdle; Sean Tavtigian; Carli M J Tops; Thomas K Weber; Niels de Wind; Michael O Woods
Journal:  Hum Mutat       Date:  2011-03-08       Impact factor: 4.878

6.  WAVe: web analysis of the variome.

Authors:  Pedro Lopes; Raymond Dalgleish; José Luís Oliveira
Journal:  Hum Mutat       Date:  2011-04-07       Impact factor: 4.878

7.  LOVD v.2.0: the next generation in gene variant databases.

Authors:  Ivo F A C Fokkema; Peter E M Taschner; Gerard C P Schaafsma; J Celli; Jeroen F J Laros; Johan T den Dunnen
Journal:  Hum Mutat       Date:  2011-02-22       Impact factor: 4.878

8.  Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

Authors:  Raymond Dalgleish; Paul Flicek; Fiona Cunningham; Alex Astashyn; Raymond E Tully; Glenn Proctor; Yuan Chen; William M McLaren; Pontus Larsson; Brendan W Vaughan; Christophe Béroud; Glen Dobson; Heikki Lehväslaiho; Peter Em Taschner; Johan T den Dunnen; Andrew Devereau; Ewan Birney; Anthony J Brookes; Donna R Maglott
Journal:  Genome Med       Date:  2010-04-15       Impact factor: 11.117

9.  Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs).

Authors:  Sue Povey; Aida I Al Aqeel; Anne Cambon-Thomsen; Raymond Dalgleish; Johan T den Dunnen; Helen V Firth; Marc S Greenblatt; Carol Isaacson Barash; Michael Parker; George P Patrinos; Judith Savige; Maria-Jesus Sobrido; Ingrid Winship; Richard G H Cotton
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

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
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