Literature DB >> 23511927

Clinical utility gene card for: long-QT syndrome (types 1-13).

Britt-Maria Beckmann1, Arthur A M Wilde, Stefan Kääb.   

Abstract

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Year:  2013        PMID： 23511927      PMCID： PMC3778358          DOI： 10.1038/ejhg.2013.28

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  13 in total

1.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

Authors:  Michael J Ackerman; Silvia G Priori; Stephan Willems; Charles Berul; Ramon Brugada; Hugh Calkins; A John Camm; Patrick T Ellinor; Michael Gollob; Robert Hamilton; Ray E Hershberger; Daniel P Judge; Hervè Le Marec; William J McKenna; Eric Schulze-Bahr; Chris Semsarian; Jeffrey A Towbin; Hugh Watkins; Arthur Wilde; Christian Wolpert; Douglas P Zipes
Journal:  Heart Rhythm       Date:  2011-08       Impact factor: 6.343

2.  Of founder populations, long QT syndrome, and destiny.

Authors:  Paul A Brink; Peter J Schwartz
Journal:  Heart Rhythm       Date:  2009-09-03       Impact factor: 6.343

3.  Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

Authors:  P J Schwartz; S G Priori; C Spazzolini; A J Moss; G M Vincent; C Napolitano; I Denjoy; P Guicheney; G Breithardt; M T Keating; J A Towbin; A H Beggs; P Brink; A A Wilde; L Toivonen; W Zareba; J L Robinson; K W Timothy; V Corfield; D Wattanasirichaigoon; C Corbett; W Haverkamp; E Schulze-Bahr; M H Lehmann; K Schwartz; P Coumel; R Bloise
Journal:  Circulation       Date:  2001-01-02       Impact factor: 29.690

4.  Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Authors:  David J Tester; Melissa L Will; Carla M Haglund; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2005-05       Impact factor: 6.343

5.  Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Authors:  I Splawski; J Shen; K W Timothy; M H Lehmann; S Priori; J L Robinson; A J Moss; P J Schwartz; J A Towbin; G M Vincent; M T Keating
Journal:  Circulation       Date:  2000-09-05       Impact factor: 29.690

6.  Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).

Authors:  A A Wilde; R J Jongbloed; P A Doevendans; D R Düren; R N Hauer; I M van Langen; J P van Tintelen; H J Smeets; H Meyer; J L Geelen
Journal:  J Am Coll Cardiol       Date:  1999-02       Impact factor: 24.094

7.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Authors:  Jamie D Kapplinger; David J Tester; Benjamin A Salisbury; Janet L Carr; Carole Harris-Kerr; Guido D Pollevick; Arthur A M Wilde; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2009-06-23       Impact factor: 6.343

8.  Long-QT syndrome after age 40.

Authors:  Ilan Goldenberg; Arthur J Moss; James Bradley; Slava Polonsky; Derick R Peterson; Scott McNitt; Wojciech Zareba; Mark L Andrews; Jennifer L Robinson; Michael J Ackerman; Jesaia Benhorin; Elizabeth S Kaufman; Emanuela H Locati; Carlo Napolitano; Silvia G Priori; Ming Qi; Peter J Schwartz; Jeffrey A Towbin; G Michael Vincent; Li Zhang
Journal:  Circulation       Date:  2008-04-21       Impact factor: 29.690

9.  Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Authors:  Carlo Napolitano; Silvia G Priori; Peter J Schwartz; Raffaella Bloise; Elena Ronchetti; Janni Nastoli; Georgia Bottelli; Marina Cerrone; Sergio Leonardi
Journal:  JAMA       Date:  2005-12-21       Impact factor: 56.272

10.  Risk stratification in the long-QT syndrome.

Authors:  Silvia G Priori; Peter J Schwartz; Carlo Napolitano; Raffaella Bloise; Elena Ronchetti; Massimiliano Grillo; Alessandro Vicentini; Carla Spazzolini; Janni Nastoli; Georgia Bottelli; Roberta Folli; Donata Cappelletti
Journal:  N Engl J Med       Date:  2003-05-08       Impact factor: 91.245
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  3 in total

Review 1.  [Genetic testing to prevent sudden cardiac death].

Authors:  B Stallmeyer; S Dittmann; E Schulze-Bahr
Journal:  Internist (Berl)       Date:  2018-08       Impact factor: 0.743

2.  Re-evaluating pathogenicity of variants associated with the long QT syndrome.

Authors:  Jonathan R Kaltman; Frank Evans; Yi-Ping Fu
Journal:  J Cardiovasc Electrophysiol       Date:  2017-11-01

3.  Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Authors:  Dace Ruklisa; James S Ware; Roddy Walsh; David J Balding; Stuart A Cook
Journal:  Genome Med       Date:  2015-01-28       Impact factor: 11.117
  3 in total

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