Literature DB >> 21301433

MutaDATABASE: a centralized and standardized DNA variation database.

Sherri Bale, Martijn Devisscher, Wim Van Criekinge, Heidi L Rehm, Frederik Decouttere, Robert Nussbaum, Johan T Den Dunnen, Patrick Willems.   

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Year:  2011        PMID： 21301433     DOI： 10.1038/nbt.1772

Source DB:  PubMed          Journal:  Nat Biotechnol        ISSN： 1087-0156            Impact factor:   54.908


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  17 in total

1.  Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Authors:  David K Crockett; Perry G Ridge; Andrew R Wilson; Elaine Lyon; Marc S Williams; Scott P Narus; Julio C Facelli; Joyce A Mitchell
Journal:  Genome Med       Date:  2012-05-28       Impact factor: 11.117

Review 2.  Translating next generation sequencing to practice: opportunities and necessary steps.

Authors:  Sitharthan Kamalakaran; Vinay Varadan; Angel Janevski; Nilanjana Banerjee; David Tuck; W Richard McCombie; Nevenka Dimitrova; Lyndsay N Harris
Journal:  Mol Oncol       Date:  2013-05-15       Impact factor: 6.603

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.  Clarity and claims in variation/mutation databasing.

Authors:  Raymond Dalgleish; William S Oetting; Arleen D Auerbach; Jacques S Beckmann; Anne Cambon-Thomsen; Andrew Devereau; Marc S Greenblatt; George P Patrinos; Graham R Taylor; Mauno Vihinen; Anthony J Brookes
Journal:  Nat Biotechnol       Date:  2011-09-08       Impact factor: 54.908

5.  Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

Authors:  Madhuri Hegde; Sherri Bale; Pinar Bayrak-Toydemir; Jane Gibson; Linda Jo Bone Jeng; Loren Joseph; Jordan Laser; Ira M Lubin; Christine E Miller; Lainie F Ross; Paul G Rothberg; Alice K Tanner; Patrik Vitazka; Rong Mao
Journal:  J Mol Diagn       Date:  2015-02-12       Impact factor: 5.568

6.  The laboratory-clinician team: a professional call to action to improve communication and collaboration for optimal patient care in chromosomal microarray testing.

Authors:  Karen E Wain; Erin Riggs; Karen Hanson; Melissa Savage; Darlene Riethmaier; Andrea Muirhead; Elyse Mitchell; Bethanny Smith Packard; W Andrew Faucett
Journal:  J Genet Couns       Date:  2012-05-18       Impact factor: 2.537

Review 7.  Molecular genetic testing and the future of clinical genomics.

Authors:  Sara Huston Katsanis; Nicholas Katsanis
Journal:  Nat Rev Genet       Date:  2013-06       Impact factor: 53.242

Review 8.  DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.

Authors:  Judy Savige; Elisabet Ars; Richard G H Cotton; David Crockett; Hayat Dagher; Constantinos Deltas; Jie Ding; Frances Flinter; Genevieve Pont-Kingdon; Nizar Smaoui; Roser Torra; Helen Storey
Journal:  Pediatr Nephrol       Date:  2013-05-30       Impact factor: 3.714

9.  Tumor suppressors status in cancer cell line Encyclopedia.

Authors:  Dmitriy Sonkin; Mehedi Hassan; Denis J Murphy; Tatiana V Tatarinova
Journal:  Mol Oncol       Date:  2013-04-11       Impact factor: 6.603

10.  Peter Bauer, Ellen Karges, Gabriela Oprea and Arndt Rolfs.

Authors:  Heidi L Rehm
Journal:  Genet Med       Date:  2017-11-02       Impact factor: 8.822
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