Literature DB >> 11533720

Quality control in molecular genetic testing.

E Dequeker1, S Ramsden, W W Grody, T T Stenzel, D E Barton.   

Abstract

DNA-based testing for genetic diseases has developed from nothing into a principal part of laboratory medicine over the past 15 years. In the rush to bring these powerful new technologies into medical use, issues of quality have not always been given sufficient attention. Efforts are now being made to assess the quality of the output of genetic testing laboratories, and the results show that there is room for improvement.

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Year:  2001        PMID： 11533720     DOI： 10.1038/35088588

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


  22 in total

1.  Quality assurance practices in Europe: a survey of molecular genetic testing laboratories.

Authors:  Sarah Berwouts; Katrina Fanning; Michael A Morris; David E Barton; Elisabeth Dequeker
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

Review 2.  Endorsing good quality assurance practices in molecular pathology: risks and recommendations for diagnostic laboratories and external quality assessment providers.

Authors:  Lien Tembuyser; Elisabeth M C Dequeker
Journal:  Virchows Arch       Date:  2015-08-26       Impact factor: 4.064

3.  Development of a web-based query tool for quality assurance of clinical molecular genetic test results.

Authors:  Matthew J McGinniss; Rebecca Chen; Victoria M Pratt; Arlene Buller; Franklin Quan; Charles M Strom; Weimin Sun; Beryl Crossley
Journal:  J Mol Diagn       Date:  2007-02       Impact factor: 5.568

Review 4.  A generic research paradigm for identification and validation of early molecular diagnostics and new therapeutics in common disorders.

Authors:  Keith D Coon; Travis L Dunckley; Dietrich A Stephan
Journal:  Mol Diagn Ther       Date:  2007       Impact factor: 4.074

5.  Variability in the use of CE-marked assays for in vitro diagnostics of CFTR gene mutations in European genetic testing laboratories.

Authors:  Jana Camajova; Sarah Berwouts; Gert Matthijs; Milan Macek; Elisabeth Dequeker
Journal:  Eur J Hum Genet       Date:  2008-12-03       Impact factor: 4.246

6.  An international external quality assessment for molecular diagnosis of hereditary recurrent fevers: a 3-year scheme demonstrates the need for improvement.

Authors:  I Touitou; C Rittore; L Philibert; J Yagüe; Y Shinar; I Aksentijevich
Journal:  Eur J Hum Genet       Date:  2009-01-28       Impact factor: 4.246

7.  Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.

Authors:  Shannon D Barker; Sherri Bale; Jessica Booker; Arlene Buller; Soma Das; Kenneth Friedman; Andrew K Godwin; Wayne W Grody; Edward Highsmith; Jeffery A Kant; Elaine Lyon; Rong Mao; Kristin G Monaghan; Deborah A Payne; Victoria M Pratt; Iris Schrijver; Antony E Shrimpton; Elaine Spector; Milhan Telatar; Lorraine Toji; Karen Weck; Barbara Zehnbauer; Lisa V Kalman
Journal:  J Mol Diagn       Date:  2009-09-18       Impact factor: 5.568

Review 8.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

9.  Strengthening the reporting of genetic association studies (STREGA): an extension of the STROBE Statement.

Authors:  Julian Little; Julian P T Higgins; John P A Ioannidis; David Moher; France Gagnon; Erik von Elm; Muin J Khoury; Barbara Cohen; George Davey-Smith; Jeremy Grimshaw; Paul Scheet; Marta Gwinn; Robin E Williamson; Guang Yong Zou; Kim Hutchings; Candice Y Johnson; Valerie Tait; Miriam Wiens; Jean Golding; Cornelia van Duijn; John McLaughlin; Andrew Paterson; George Wells; Isabel Fortier; Matthew Freedman; Maja Zecevic; Richard King; Claire Infante-Rivard; Alex Stewart; Nick Birkett
Journal:  Hum Genet       Date:  2009-02-01       Impact factor: 4.132

10.  STrengthening the REporting of Genetic Association Studies (STREGA): an extension of the STROBE statement.

Authors:  Julian Little; Julian P T Higgins; John P A Ioannidis; David Moher; France Gagnon; Erik von Elm; Muin J Khoury; Barbara Cohen; George Davey-Smith; Jeremy Grimshaw; Paul Scheet; Marta Gwinn; Robin E Williamson; Guang Yong Zou; Kim Hutchings; Candice Y Johnson; Valerie Tait; Miriam Wiens; Jean Golding; Cornelia van Duijn; John McLaughlin; Andrew Paterson; George Wells; Isabel Fortier; Matthew Freedman; Maja Zecevic; Richard King; Claire Infante-Rivard; Alex Stewart; Nick Birkett
Journal:  PLoS Med       Date:  2009-02-03       Impact factor: 11.069
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