Literature DB >> 20359595

A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy.

Ray E Hershberger.   

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Year:  2010        PMID： 20359595      PMCID： PMC2915403          DOI： 10.1016/j.jacc.2009.12.025

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  12 in total

1.  Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

Authors:  J Ingles; A Doolan; C Chiu; J Seidman; C Seidman; C Semsarian
Journal:  J Med Genet       Date:  2005-10       Impact factor: 6.318

2.  Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

Authors:  Pascale Richard; Philippe Charron; Lucie Carrier; Céline Ledeuil; Theary Cheav; Claire Pichereau; Abdelaziz Benaiche; Richard Isnard; Olivier Dubourg; Marc Burban; Jean-Pierre Gueffet; Alain Millaire; Michel Desnos; Ketty Schwartz; Bernard Hainque; Michel Komajda
Journal:  Circulation       Date:  2003-04-21       Impact factor: 29.690

3.  Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

Authors:  Sara L Van Driest; Vlad C Vasile; Steve R Ommen; Melissa L Will; A Jamil Tajik; Bernard J Gersh; Michael J Ackerman
Journal:  J Am Coll Cardiol       Date:  2004-11-02       Impact factor: 24.094

Review 4.  Human genetic variation and its contribution to complex traits.

Authors:  Kelly A Frazer; Sarah S Murray; Nicholas J Schork; Eric J Topol
Journal:  Nat Rev Genet       Date:  2009-04       Impact factor: 53.242

5.  Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.

Authors:  Sharie B Parks; Jessica D Kushner; Deirdre Nauman; Donna Burgess; Susan Ludwigsen; Amanda Peterson; Duanxiang Li; Petra Jakobs; Michael Litt; Charles B Porter; Peter S Rahko; Ray E Hershberger
Journal:  Am Heart J       Date:  2008-03-12       Impact factor: 4.749

Review 6.  Common and rare variants in multifactorial susceptibility to common diseases.

Authors:  Walter Bodmer; Carolina Bonilla
Journal:  Nat Genet       Date:  2008-06       Impact factor: 38.330

7.  Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy.

Authors:  E Warwick Daw; Suet Nee Chen; Grazyna Czernuszewicz; Raffaella Lombardi; Yue Lu; Jianzhong Ma; Robert Roberts; Sanjay Shete; Ali J Marian
Journal:  Hum Mol Genet       Date:  2007-07-25       Impact factor: 6.150

Review 8.  Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  Ray E Hershberger; Jason Cowan; Ana Morales; Jill D Siegfried
Journal:  Circ Heart Fail       Date:  2009-05       Impact factor: 8.790

9.  The diploid genome sequence of an individual human.

Authors:  Samuel Levy; Granger Sutton; Pauline C Ng; Lars Feuk; Aaron L Halpern; Brian P Walenz; Nelson Axelrod; Jiaqi Huang; Ewen F Kirkness; Gennady Denisov; Yuan Lin; Jeffrey R MacDonald; Andy Wing Chun Pang; Mary Shago; Timothy B Stockwell; Alexia Tsiamouri; Vineet Bafna; Vikas Bansal; Saul A Kravitz; Dana A Busam; Karen Y Beeson; Tina C McIntosh; Karin A Remington; Josep F Abril; John Gill; Jon Borman; Yu-Hui Rogers; Marvin E Frazier; Stephen W Scherer; Robert L Strausberg; J Craig Venter
Journal:  PLoS Biol       Date:  2007-09-04       Impact factor: 8.029

10.  Targeted capture and massively parallel sequencing of 12 human exomes.

Authors:  Sarah B Ng; Emily H Turner; Peggy D Robertson; Steven D Flygare; Abigail W Bigham; Choli Lee; Tristan Shaffer; Michelle Wong; Arindam Bhattacharjee; Evan E Eichler; Michael Bamshad; Deborah A Nickerson; Jay Shendure
Journal:  Nature       Date:  2009-08-16       Impact factor: 49.962
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  7 in total

Review 1.  Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

Authors:  Ray E Hershberger; Jill D Siegfried
Journal:  J Am Coll Cardiol       Date:  2011-04-19       Impact factor: 24.094

2.  Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation.

Authors:  Ana Morales; Jose Renato Pinto; Jill D Siegfried; Duanxiang Li; Nadine Norton; Mark Hofmeyer; Marta Vallin; Azorides R Morales; James D Potter; Ray E Hershberger
Journal:  Clin Transl Sci       Date:  2010-10       Impact factor: 4.689

3.  SCN5A rare variants in familial dilated cardiomyopathy decrease peak sodium current depending on the common polymorphism H558R and common splice variant Q1077del.

Authors:  Jianding Cheng; Ana Morales; Jill D Siegfried; Duanxiang Li; Nadine Norton; Junyao Song; Jorge Gonzalez-Quintana; Jonathan C Makielski; Ray E Hershberger
Journal:  Clin Transl Sci       Date:  2010-12       Impact factor: 4.689

Review 4.  Dilated cardiomyopathy: the complexity of a diverse genetic architecture.

Authors:  Ray E Hershberger; Dale J Hedges; Ana Morales
Journal:  Nat Rev Cardiol       Date:  2013-07-30       Impact factor: 32.419

Review 5.  Genetic evaluation of dilated cardiomyopathy.

Authors:  Ana Morales; Ray E Hershberger
Journal:  Curr Cardiol Rep       Date:  2013-07       Impact factor: 2.931

6.  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

Review 7.  The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.

Authors:  Ray E Hershberger; Jason Cowan; Elizabeth Jordan; Daniel D Kinnamon
Journal:  Circ Res       Date:  2021-05-13       Impact factor: 17.367
  7 in total

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