Literature DB >> 29030407

Hypertrophic Cardiomyopathy Gene Testing: Go Big?

Megan J Puckelwartz1, Elizabeth M McNally2.   

Abstract

Entities:  

Keywords:  Editorials; cardiomyopathy, hypertrophic; genetic testing; incidental findings; mutation

Mesh：

Year:  2017        PMID： 29030407      PMCID： PMC5743328          DOI： 10.1161/CIRCGENETICS.117.001951

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


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  18 in total

1.  Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors:  Beryl B Cummings; Jamie L Marshall; Taru Tukiainen; Monkol Lek; Sandra Donkervoort; A Reghan Foley; Veronique Bolduc; Leigh B Waddell; Sarah A Sandaradura; Gina L O'Grady; Elicia Estrella; Hemakumar M Reddy; Fengmei Zhao; Ben Weisburd; Konrad J Karczewski; Anne H O'Donnell-Luria; Daniel Birnbaum; Anna Sarkozy; Ying Hu; Hernan Gonorazky; Kristl Claeys; Himanshu Joshi; Adam Bournazos; Emily C Oates; Roula Ghaoui; Mark R Davis; Nigel G Laing; Ana Topf; Peter B Kang; Alan H Beggs; Kathryn N North; Volker Straub; James J Dowling; Francesco Muntoni; Nigel F Clarke; Sandra T Cooper; Carsten G Bönnemann; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2017-04-19       Impact factor: 17.956

Review 2.  Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

Authors:  Elizabeth M McNally; Luisa Mestroni
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

3.  Genetic Misdiagnoses and the Potential for Health Disparities.

Authors:  Arjun K Manrai; Birgit H Funke; Heidi L Rehm; Morten S Olesen; Bradley A Maron; Peter Szolovits; David M Margulies; Joseph Loscalzo; Isaac S Kohane
Journal:  N Engl J Med       Date:  2016-08-18       Impact factor: 91.245

4.  Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

Authors:  Martín F Ortiz-Genga; Sofía Cuenca; Matteo Dal Ferro; Esther Zorio; Ricardo Salgado-Aranda; Vicente Climent; Laura Padrón-Barthe; Iria Duro-Aguado; Juan Jiménez-Jáimez; Víctor M Hidalgo-Olivares; Enrique García-Campo; Chiara Lanzillo; M Paz Suárez-Mier; Hagith Yonath; Sonia Marcos-Alonso; Juan P Ochoa; José L Santomé; Diego García-Giustiniani; Jorge L Rodríguez-Garrido; Fernando Domínguez; Marco Merlo; Julián Palomino; María L Peña; Juan P Trujillo; Alicia Martín-Vila; Davide Stolfo; Pilar Molina; Enrique Lara-Pezzi; Francisco E Calvo-Iglesias; Eyal Nof; Leonardo Calò; Roberto Barriales-Villa; Juan R Gimeno-Blanes; Michael Arad; Pablo García-Pavía; Lorenzo Monserrat
Journal:  J Am Coll Cardiol       Date:  2016-12-06       Impact factor: 24.094

Review 5.  Role of Genetic Testing in Inherited Cardiovascular Disease: A Review.

Authors:  Allison L Cirino; Stephanie Harris; Neal K Lakdawala; Michelle Michels; Iacopo Olivotto; Sharlene M Day; Dominic J Abrams; Philippe Charron; Colleen Caleshu; Christopher Semsarian; Jodie Ingles; Harry Rakowski; Daniel P Judge; Carolyn Y Ho
Journal:  JAMA Cardiol       Date:  2017-10-01       Impact factor: 14.676

6.  Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.

Authors:  Jessica R Golbus; Megan J Puckelwartz; Lisa Dellefave-Castillo; John P Fahrenbach; Viswateja Nelakuditi; Lorenzo L Pesce; Peter Pytel; Elizabeth M McNally
Journal:  Circ Cardiovasc Genet       Date:  2014-09-01

7.  Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

Authors:  Ahmed A Alfares; Melissa A Kelly; Gregory McDermott; Birgit H Funke; Matthew S Lebo; Samantha B Baxter; Jun Shen; Heather M McLaughlin; Eugene H Clark; Larry J Babb; Stephanie W Cox; Steven R DePalma; Carolyn Y Ho; J G Seidman; Christine E Seidman; Heidi L Rehm
Journal:  Genet Med       Date:  2015-01-22       Impact factor: 8.822

8.  The ExAC browser: displaying reference data information from over 60 000 exomes.

Authors:  Konrad J Karczewski; Ben Weisburd; Brett Thomas; Matthew Solomonson; Douglas M Ruderfer; David Kavanagh; Tymor Hamamsy; Monkol Lek; Kaitlin E Samocha; Beryl B Cummings; Daniel Birnbaum; Mark J Daly; Daniel G MacArthur
Journal:  Nucleic Acids Res       Date:  2016-11-28       Impact factor: 16.971

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.  Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Authors:  Roddy Walsh; Rachel Buchan; Alicja Wilk; Shibu John; Leanne E Felkin; Kate L Thomson; Tang Hak Chiaw; Calvin Chin Woon Loong; Chee Jian Pua; Claire Raphael; Sanjay Prasad; Paul J Barton; Birgit Funke; Hugh Watkins; James S Ware; Stuart A Cook
Journal:  Eur Heart J       Date:  2017-12-07       Impact factor: 35.855
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