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Literature DB >> 30354441

Growing Pains in Cardiovascular Genetics.

Dan M Roden¹.

Abstract

Entities: Chemical Disease Gene Species

Keywords: Editorials

Mesh：

Year: 2018 PMID： 30354441 PMCID： PMC6206881 DOI： 10.1161/CIRCULATIONAHA.118.035933

Source DB: PubMed Journal: Circulation ISSN： 0009-7322 Impact factor: 29.690

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15 in total

1. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

Authors: Natasha T Strande; Erin Rooney Riggs; Adam H Buchanan; Ozge Ceyhan-Birsoy; Marina DiStefano; Selina S Dwight; Jenny Goldstein; Rajarshi Ghosh; Bryce A Seifert; Tam P Sneddon; Matt W Wright; Laura V Milko; J Michael Cherry; Monica A Giovanni; Michael F Murray; Julianne M O'Daniel; Erin M Ramos; Avni B Santani; Alan F Scott; Sharon E Plon; Heidi L Rehm; Christa L Martin; Jonathan S Berg
Journal: Am J Hum Genet Date: 2017-05-25 Impact factor: 11.025

2. Age- and training-dependent development of arrhythmogenic right ventricular cardiomyopathy in heterozygous plakoglobin-deficient mice.

Authors: Paulus Kirchhof; Larissa Fabritz; Melanie Zwiener; Henning Witt; Michael Schäfers; Stephan Zellerhoff; Matthias Paul; Timur Athai; Karl-Heinz Hiller; Hideo A Baba; Günter Breithardt; Patricia Ruiz; Thomas Wichter; Bodo Levkau
Journal: Circulation Date: 2006-10-09 Impact factor: 29.690

3. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.

Authors: Q Chen; G E Kirsch; D Zhang; R Brugada; J Brugada; P Brugada; D Potenza; A Moya; M Borggrefe; G Breithardt; R Ortiz-Lopez; Z Wang; C Antzelevitch; R E O'Brien; E Schulze-Bahr; M T Keating; J A Towbin; Q Wang
Journal: Nature Date: 1998-03-19 Impact factor: 49.962

4. SCN5A (Na_V1.5) Variant Functional Perturbation and Clinical Presentation: Variants of a Certain Significance.

Authors: Brett M Kroncke; Andrew M Glazer; Derek K Smith; Jeffrey D Blume; Dan M Roden
Journal: Circ Genom Precis Med Date: 2018-05

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. Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.

Authors: Daniel J Clemens; Anne R Lentino; Jamie D Kapplinger; Dan Ye; Wei Zhou; David J Tester; Michael J Ackerman
Journal: Heart Rhythm Date: 2017-12-02 Impact factor: 6.343

Review 7. Opportunities and Challenges in Cardiovascular Pharmacogenomics: From Discovery to Implementation.

Authors: Dan M Roden; Sara L Van Driest; Quinn S Wells; Jonathan D Mosley; Joshua C Denny; Josh F Peterson
Journal: Circ Res Date: 2018-04-27 Impact factor: 17.367

8. Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Authors: Christopher M Haggerty; Cynthia A James; Hugh Calkins; Crystal Tichnell; Joseph B Leader; Dustin N Hartzel; Christopher D Nevius; Sarah A Pendergrass; Thomas N Person; Marci Schwartz; Marylyn D Ritchie; David J Carey; David H Ledbetter; Marc S Williams; Frederick E Dewey; Alexander Lopez; John Penn; John D Overton; Jeffrey G Reid; Matthew Lebo; Heather Mason-Suares; Christina Austin-Tse; Heidi L Rehm; Brian P Delisle; Daniel J Makowski; Vishal C Mehra; Michael F Murray; Brandon K Fornwalt
Journal: Genet Med Date: 2017-05-04 Impact factor: 8.822

9. Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Authors: Connie R Bezzina; Julien Barc; Yuka Mizusawa; Carol Ann Remme; Jean-Baptiste Gourraud; Floriane Simonet; Arie O Verkerk; Peter J Schwartz; Lia Crotti; Federica Dagradi; Pascale Guicheney; Véronique Fressart; Antoine Leenhardt; Charles Antzelevitch; Susan Bartkowiak; Martin Borggrefe; Rainer Schimpf; Eric Schulze-Bahr; Sven Zumhagen; Elijah R Behr; Rachel Bastiaenen; Jacob Tfelt-Hansen; Morten Salling Olesen; Stefan Kääb; Britt M Beckmann; Peter Weeke; Hiroshi Watanabe; Naoto Endo; Tohru Minamino; Minoru Horie; Seiko Ohno; Kanae Hasegawa; Naomasa Makita; Akihiko Nogami; Wataru Shimizu; Takeshi Aiba; Philippe Froguel; Beverley Balkau; Olivier Lantieri; Margherita Torchio; Cornelia Wiese; David Weber; Rianne Wolswinkel; Ruben Coronel; Bas J Boukens; Stéphane Bézieau; Eric Charpentier; Stéphanie Chatel; Aurore Despres; Françoise Gros; Florence Kyndt; Simon Lecointe; Pierre Lindenbaum; Vincent Portero; Jade Violleau; Manfred Gessler; Hanno L Tan; Dan M Roden; Vincent M Christoffels; Hervé Le Marec; Arthur A Wilde; Vincent Probst; Jean-Jacques Schott; Christian Dina; Richard Redon
Journal: Nat Genet Date: 2013-07-21 Impact factor: 38.330

10. Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion.

Authors: Nabeel Sheikh; Michael Papadakis; Mathew Wilson; Aneil Malhotra; Carmen Adamuz; Tessa Homfray; Lorenzo Monserrat; Elijah R Behr; Sanjay Sharma
Journal: Circulation Date: 2018-09-18 Impact factor: 29.690

1 in total

1. Predictive value of genomic screening: cross-sectional study of cystic fibrosis in 50,788 electronic health records.

Authors: J A Stamm; D J Carey; U L Mirshahi; J P Sugunaraj; H M Brosius; M F Murray; K Manickam
Journal: NPJ Genom Med Date: 2019-09-04 Impact factor: 8.617

1 in total