Literature DB >> 26935036

Arrhythmias: Opening Pandora's Box -- incidental genetic findings.

Elijah R Behr1, Andrew D Krahn2.   

Abstract

A major goal of precision medicine is to improve disease prevention and therapy by using big data provided by genomic technology and electronic health records. In a new study, assessment of a patient population without a history of cardiac disease revealed that genetic variants putatively associated with a risk of sudden death were not linked with arrhythmia phenotypes.

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Year:  2016        PMID： 26935036     DOI： 10.1038/nrcardio.2016.27

Source DB:  PubMed          Journal:  Nat Rev Cardiol        ISSN： 1759-5002            Impact factor:   32.419


  10 in total

Review 1.  Genetic testing for inherited cardiac disease.

Authors:  Arthur A M Wilde; Elijah R Behr
Journal:  Nat Rev Cardiol       Date:  2013-07-30       Impact factor: 32.419

Review 2.  HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.

Authors:  Silvia G Priori; Arthur A Wilde; Minoru Horie; Yongkeun Cho; Elijah R Behr; Charles Berul; Nico Blom; Josep Brugada; Chern-En Chiang; Heikki Huikuri; Prince Kannankeril; Andrew Krahn; Antoine Leenhardt; Arthur Moss; Peter J Schwartz; Wataru Shimizu; Gordon Tomaselli; Cynthia Tracy
Journal:  Heart Rhythm       Date:  2013-08-30       Impact factor: 6.343

3.  SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family.

Authors:  S Chen; M K Chung; D Martin; R Rozich; P J Tchou; Q Wang
Journal:  J Med Genet       Date:  2002-12       Impact factor: 6.318

4.  ClinGen--the Clinical Genome Resource.

Authors:  Heidi L Rehm; Jonathan S Berg; Lisa D Brooks; Carlos D Bustamante; James P Evans; Melissa J Landrum; David H Ledbetter; Donna R Maglott; Christa Lese Martin; Robert L Nussbaum; Sharon E Plon; Erin M Ramos; Stephen T Sherry; Michael S Watson
Journal:  N Engl J Med       Date:  2015-05-27       Impact factor: 91.245

5.  Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.

Authors:  Sara L Van Driest; Quinn S Wells; Sarah Stallings; William S Bush; Adam Gordon; Deborah A Nickerson; Jerry H Kim; David R Crosslin; Gail P Jarvik; David S Carrell; James D Ralston; Eric B Larson; Suzette J Bielinski; Janet E Olson; Zi Ye; Iftikhar J Kullo; Noura S Abul-Husn; Stuart A Scott; Erwin Bottinger; Berta Almoguera; John Connolly; Rosetta Chiavacci; Hakon Hakonarson; Laura J Rasmussen-Torvik; Vivian Pan; Stephen D Persell; Maureen Smith; Rex L Chisholm; Terrie E Kitchner; Max M He; Murray H Brilliant; John R Wallace; Kimberly F Doheny; M Benjamin Shoemaker; Rongling Li; Teri A Manolio; Thomas E Callis; Daniela Macaya; Marc S Williams; David Carey; Jamie D Kapplinger; Michael J Ackerman; Marylyn D Ritchie; Joshua C Denny; Dan M Roden
Journal:  JAMA       Date:  2016-01-05       Impact factor: 56.272

6.  Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia.

Authors:  Igor Splawski; Katherine W Timothy; Michihiro Tateyama; Colleen E Clancy; Alka Malhotra; Alan H Beggs; Francesco P Cappuccio; Giuseppe A Sagnella; Robert S Kass; Mark T Keating
Journal:  Science       Date:  2002-08-23       Impact factor: 47.728

7.  High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

Authors:  Lena Refsgaard; Anders G Holst; Golnaz Sadjadieh; Stig Haunsø; Jonas B Nielsen; Morten S Olesen
Journal:  Eur J Hum Genet       Date:  2012-02-29       Impact factor: 4.246

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

9.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

10.  ClinVar: public archive of interpretations of clinically relevant variants.

Authors:  Melissa J Landrum; Jennifer M Lee; Mark Benson; Garth Brown; Chen Chao; Shanmuga Chitipiralla; Baoshan Gu; Jennifer Hart; Douglas Hoffman; Jeffrey Hoover; Wonhee Jang; Kenneth Katz; Michael Ovetsky; George Riley; Amanjeev Sethi; Ray Tully; Ricardo Villamarin-Salomon; Wendy Rubinstein; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2015-11-17       Impact factor: 16.971
  10 in total

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