Literature DB >> 23852418

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar.

Jaya Punetha1, Eric P Hoffman.   

Abstract

Entities:  

Keywords:  Massively-Parallel Sequencing; cardiomyopathies; cardiomyopathy, dilated; connectin; exome; genetics; humans

Mesh：

Substances：

Year:  2013        PMID： 23852418      PMCID： PMC4116683          DOI： 10.1161/CIRCGENETICS.113.000085

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


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  66 in total

1.  Series of exon-skipping events in the elastic spring region of titin as the structural basis for myofibrillar elastic diversity.

Authors:  A Freiburg; K Trombitas; W Hell; O Cazorla; F Fougerousse; T Centner; B Kolmerer; C Witt; J S Beckmann; C C Gregorio; H Granzier; S Labeit
Journal:  Circ Res       Date:  2000-06-09       Impact factor: 17.367

Review 2.  Target-enrichment strategies for next-generation sequencing.

Authors:  Lira Mamanova; Alison J Coffey; Carol E Scott; Iwanka Kozarewa; Emily H Turner; Akash Kumar; Eleanor Howard; Jay Shendure; Daniel J Turner
Journal:  Nat Methods       Date:  2010-02       Impact factor: 28.547

3.  The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy.

Authors:  V V Michels; P P Moll; F A Miller; A J Tajik; J S Chu; D J Driscoll; J C Burnett; R J Rodeheffer; J H Chesebro; H D Tazelaar
Journal:  N Engl J Med       Date:  1992-01-09       Impact factor: 91.245

Review 4.  Malignant hyperthermia.

Authors:  Oliver Bandschapp; Thierry Girard
Journal:  Swiss Med Wkly       Date:  2012-07-31       Impact factor: 2.193

Review 5.  Disclosure of incidental findings from next-generation sequencing in pediatric genomic research.

Authors:  Ruqayyah Abdul-Karim; Benjamin E Berkman; David Wendler; Annette Rid; Javed Khan; Tom Badgett; Sara Chandros Hull
Journal:  Pediatrics       Date:  2013-02-11       Impact factor: 7.124

6.  Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention.

Authors:  Barry J Maron; Jeffrey A Towbin; Gaetano Thiene; Charles Antzelevitch; Domenico Corrado; Donna Arnett; Arthur J Moss; Christine E Seidman; James B Young
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

7.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

8.  Practices and policies of clinical exome sequencing providers: analysis and implications.

Authors:  Seema M Jamal; Joon-Ho Yu; Jessica X Chong; Karin M Dent; Jessie H Conta; Holly K Tabor; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2013-05       Impact factor: 2.802

Review 9.  Managing incidental findings in human subjects research: analysis and recommendations.

Authors:  Susan M Wolf; Frances P Lawrenz; Charles A Nelson; Jeffrey P Kahn; Mildred K Cho; Ellen Wright Clayton; Joel G Fletcher; Michael K Georgieff; Dale Hammerschmidt; Kathy Hudson; Judy Illes; Vivek Kapur; Moira A Keane; Barbara A Koenig; Bonnie S Leroy; Elizabeth G McFarland; Jordan Paradise; Lisa S Parker; Sharon F Terry; Brian Van Ness; Benjamin S Wilfond
Journal:  J Law Med Ethics       Date:  2008       Impact factor: 1.718

10.  The structure of the sarcomeric M band: localization of defined domains of myomesin, M-protein, and the 250-kD carboxy-terminal region of titin by immunoelectron microscopy.

Authors:  W M Obermann; M Gautel; F Steiner; P F van der Ven; K Weber; D O Fürst
Journal:  J Cell Biol       Date:  1996-09       Impact factor: 10.539
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  10 in total

Review 1.  Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.

Authors:  Elizabeth M McNally; Megan J Puckelwartz
Journal:  Circ J       Date:  2015-06-04       Impact factor: 2.993

Review 2.  [Modern genetic counselling : Practical aspects exemplified by hypertrophic cardiomyopathy].

Authors:  F Czepluch; G Hasenfuß; B Wollnik
Journal:  Internist (Berl)       Date:  2018-08       Impact factor: 0.743

3.  Bioinformatics method identifies potential biomarkers of dilated cardiomyopathy in a human induced pluripotent stem cell-derived cardiomyocyte model.

Authors:  Yu Zhuang; Yu-Jia Gong; Bei-Fen Zhong; Yi Zhou; Li Gong
Journal:  Exp Ther Med       Date:  2017-07-28       Impact factor: 2.447

4.  Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

Authors:  Sheila Riazi; Natalia Kraeva; Sheila M Muldoon; James Dowling; Clara Ho; Maria-Alexandra Petre; Jerome Parness; Robert T Dirksen; Henry Rosenberg
Journal:  Can J Anaesth       Date:  2014-09-05       Impact factor: 5.063

Review 5.  [Inherited heart diseases and storage diseases with cardiac involvement].

Authors:  Frauke S Czepluch; Gerd Hasenfuß
Journal:  Internist (Berl)       Date:  2018-10       Impact factor: 0.743

6.  Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

Authors:  Laurence M Nunn; Luis R Lopes; Petros Syrris; Cian Murphy; Vincent Plagnol; Eileen Firman; Chrysoula Dalageorgou; Esther Zorio; Diana Domingo; Victoria Murday; Iain Findlay; Alexis Duncan; Gerry Carr-White; Leema Robert; Teofila Bueser; Caroline Langman; Simon P Fynn; Martin Goddard; Anne White; Henning Bundgaard; Laura Ferrero-Miliani; Nigel Wheeldon; Simon K Suvarna; Aliceson O'Beirne; Martin D Lowe; William J McKenna; Perry M Elliott; Pier D Lambiase
Journal:  Europace       Date:  2015-10-25       Impact factor: 5.214

7.  Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Authors:  Lamis Yehia; Ying Ni; Charis Eng
Journal:  NPJ Genom Med       Date:  2017-12-18       Impact factor: 8.617

Review 8.  The Next Generation of Molecular and Cellular Therapeutics for Inherited Retinal Disease.

Authors:  Luis A Martinez Velazquez; Brian G Ballios
Journal:  Int J Mol Sci       Date:  2021-10-26       Impact factor: 5.923

9.  Targeted next-generation sequencing of candidate genes reveals novel mutations in patients with dilated cardiomyopathy.

Authors:  Yue Zhao; Yue Feng; Yun-Mei Zhang; Xiao-Xue Ding; Yu-Zhu Song; A-Mei Zhang; Li Liu; Hong Zhang; Jia-Huan Ding; Xue-Shan Xia
Journal:  Int J Mol Med       Date:  2015-10-07       Impact factor: 4.101

10.  Genetic determinants of heart failure: facts and numbers.

Authors:  Frauke S Czepluch; Bernd Wollnik; Gerd Hasenfuß
Journal:  ESC Heart Fail       Date:  2018-02-19
  10 in total

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