Literature DB >> 26884609

Complexities of Genetic Testing in Familial Dilated Cardiomyopathy.

Matthew J Wolf1, Dagny Noeth2, Chidambaram Rammohan2, Svati H Shah2.   

Abstract

Entities:  

Keywords:  cardiomyopathies; dilated cardiomyopathy; edema; genetic testing; genetics

Mesh：

Substances：

Year:  2016        PMID： 26884609      PMCID： PMC5131558          DOI： 10.1161/CIRCGENETICS.115.001157

Source DB:  PubMed          Journal:  Circ Cardiovasc Genet        ISSN： 1942-3268


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  15 in total

1.  Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

Authors:  Nadine Norton; Duanxiang Li; Evadnie Rampersaud; Ana Morales; Eden R Martin; Stephan Zuchner; Shengru Guo; Michael Gonzalez; Dale J Hedges; Peggy D Robertson; Niklas Krumm; Deborah A Nickerson; Ray E Hershberger
Journal:  Circ Cardiovasc Genet       Date:  2013-02-15

2.  Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

Authors:  Timothy M Olson; Virginia V Michels; Jeffrey D Ballew; Sandra P Reyna; Margaret L Karst; Kathleen J Herron; Steven C Horton; Richard J Rodeheffer; Jeffrey L Anderson
Journal:  JAMA       Date:  2005-01-26       Impact factor: 56.272

3.  Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy.

Authors:  G M Felker; R E Thompson; J M Hare; R H Hruban; D E Clemetson; D L Howard; K L Baughman; E K Kasper
Journal:  N Engl J Med       Date:  2000-04-13       Impact factor: 91.245

4.  SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia.

Authors:  William P McNair; Lisa Ku; Matthew R G Taylor; Pam R Fain; Dmi Dao; Eugene Wolfel; Luisa Mestroni
Journal:  Circulation       Date:  2004-10-04       Impact factor: 29.690

5.  Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline.

Authors:  Ray E Hershberger; Joann Lindenfeld; Luisa Mestroni; Christine E Seidman; Matthew R G Taylor; Jeffrey A Towbin
Journal:  J Card Fail       Date:  2009-03       Impact factor: 5.712

6.  Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

Authors:  D Woodrow Benson; Dao W Wang; Macaira Dyment; Timothy K Knilans; Frank A Fish; Margaret J Strieper; Thomas H Rhodes; Alfred L George
Journal:  J Clin Invest       Date:  2003-10       Impact factor: 14.808

7.  Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals.

Authors:  Ray E Hershberger; Ana Morales; Jill D Siegfried
Journal:  Genet Med       Date:  2010-11       Impact factor: 8.822

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.  Truncations of titin causing dilated cardiomyopathy.

Authors:  Daniel S Herman; Lien Lam; Matthew R G Taylor; Libin Wang; Polakit Teekakirikul; Danos Christodoulou; Lauren Conner; Steven R DePalma; Barbara McDonough; Elizabeth Sparks; Debbie Lin Teodorescu; Allison L Cirino; Nicholas R Banner; Dudley J Pennell; Sharon Graw; Marco Merlo; Andrea Di Lenarda; Gianfranco Sinagra; J Martijn Bos; Michael J Ackerman; Richard N Mitchell; Charles E Murry; Neal K Lakdawala; Carolyn Y Ho; Paul J R Barton; Stuart A Cook; Luisa Mestroni; J G Seidman; Christine E Seidman
Journal:  N Engl J Med       Date:  2012-02-16       Impact factor: 91.245

10.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971
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  3 in total

1.  Patient and provider perspectives on the development of personalized medicine: a mixed-methods approach.

Authors:  Lauren Puryear; Natalie Downs; Andrea Nevedal; Eleanor T Lewis; Kelly E Ormond; Maria Bregendahl; Carlos J Suarez; Sean P David; Steven Charlap; Isabella Chu; Steven M Asch; Neda Pakdaman; Sang-Ick Chang; Mark R Cullen; Latha Palaniappan
Journal:  J Community Genet       Date:  2017-12-27

Review 2.  Complex roads from genotype to phenotype in dilated cardiomyopathy: scientific update from the Working Group of Myocardial Function of the European Society of Cardiology.

Authors:  Antoine Bondue; Eloisa Arbustini; Anna Bianco; Michele Ciccarelli; Dana Dawson; Matteo De Rosa; Nazha Hamdani; Denise Hilfiker-Kleiner; Benjamin Meder; Adelino F Leite-Moreira; Thomas Thum; Carlo G Tocchetti; Gilda Varricchi; Jolanda Van der Velden; Roddy Walsh; Stephane Heymans
Journal:  Cardiovasc Res       Date:  2018-08-01       Impact factor: 10.787

3.  Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Authors:  Tess D Pottinger; Megan J Puckelwartz; Lorenzo L Pesce; Avery Robinson; Samuel Kearns; Jennifer A Pacheco; Laura J Rasmussen-Torvik; Maureen E Smith; Rex Chisholm; Elizabeth M McNally
Journal:  J Am Heart Assoc       Date:  2020-02-03       Impact factor: 6.106
  3 in total

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