Literature DB >> 23250897

Action and the actionability in exome variation.

Calum A MacRae.   

Abstract

Entities:  

Mesh：

Year:  2012        PMID： 23250897      PMCID： PMC3834266          DOI： 10.1161/CIRCGENETICS.112.965152

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


× No keyword cloud information.
  11 in total

Review 1.  Principles for the buffering of genetic variation.

Authors:  J L Hartman; B Garvik; L Hartwell
Journal:  Science       Date:  2001-02-09       Impact factor: 47.728

Review 2.  Genetic and genomic discovery using family studies.

Authors:  Ingrid B Borecki; Michael A Province
Journal:  Circulation       Date:  2008-09-02       Impact factor: 29.690

3.  Closer look at genetic testing in long-QT syndrome: will DNA diagnostics ever be enough?

Authors:  Calum A MacRae
Journal:  Circulation       Date:  2009-10-19       Impact factor: 29.690

4.  A synonymous single nucleotide polymorphism in DeltaF508 CFTR alters the secondary structure of the mRNA and the expression of the mutant protein.

Authors:  Rafal A Bartoszewski; Michael Jablonsky; Sylwia Bartoszewska; Lauren Stevenson; Qun Dai; John Kappes; James F Collawn; Zsuzsa Bebok
Journal:  J Biol Chem       Date:  2010-07-13       Impact factor: 5.157

5.  A ceRNA hypothesis: the Rosetta Stone of a hidden RNA language?

Authors:  Leonardo Salmena; Laura Poliseno; Yvonne Tay; Lev Kats; Pier Paolo Pandolfi
Journal:  Cell       Date:  2011-07-28       Impact factor: 41.582

Review 6.  The genetic basis for cardiac remodeling.

Authors:  Ferhaan Ahmad; J G Seidman; Christine E Seidman
Journal:  Annu Rev Genomics Hum Genet       Date:  2005       Impact factor: 8.929

7.  Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.

Authors:  Mathew C Casimiro; Bjoern C Knollmann; Ebenezer N Yamoah; Liping Nie; Jay C Vary; Syevda G Sirenko; Anne E Greene; Alexander Grinberg; Sing Ping Huang; Steven N Ebert; Karl Pfeifer
Journal:  Genomics       Date:  2004-09       Impact factor: 5.736

Review 8.  Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy.

Authors:  Houman Ashrafian; William J McKenna; Hugh Watkins
Journal:  Circ Res       Date:  2011-06-24       Impact factor: 17.367

9.  Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

Authors:  Stephen Pan; Colleen A Caleshu; Kyla E Dunn; Marcia J Foti; Maura K Moran; Oretunlewa Soyinka; Euan A Ashley
Journal:  Circ Cardiovasc Genet       Date:  2012-10-16

10.  A systematic survey of loss-of-function variants in human protein-coding genes.

Authors:  Daniel G MacArthur; Suganthi Balasubramanian; Adam Frankish; Ni Huang; James Morris; Klaudia Walter; Luke Jostins; Lukas Habegger; Joseph K Pickrell; Stephen B Montgomery; Cornelis A Albers; Zhengdong D Zhang; Donald F Conrad; Gerton Lunter; Hancheng Zheng; Qasim Ayub; Mark A DePristo; Eric Banks; Min Hu; Robert E Handsaker; Jeffrey A Rosenfeld; Menachem Fromer; Mike Jin; Xinmeng Jasmine Mu; Ekta Khurana; Kai Ye; Mike Kay; Gary Ian Saunders; Marie-Marthe Suner; Toby Hunt; If H A Barnes; Clara Amid; Denise R Carvalho-Silva; Alexandra H Bignell; Catherine Snow; Bryndis Yngvadottir; Suzannah Bumpstead; David N Cooper; Yali Xue; Irene Gallego Romero; Jun Wang; Yingrui Li; Richard A Gibbs; Steven A McCarroll; Emmanouil T Dermitzakis; Jonathan K Pritchard; Jeffrey C Barrett; Jennifer Harrow; Matthew E Hurles; Mark B Gerstein; Chris Tyler-Smith
Journal:  Science       Date:  2012-02-17       Impact factor: 47.728
View more
  4 in total

1.  Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans.

Authors:  Vivian S Lee; Carmen M Halabi; Erin P Hoffman; Nikkola Carmichael; Ignaty Leshchiner; Christine G Lian; Andrew J Bierhals; Dana Vuzman; Robert P Mecham; Natasha Y Frank; Nathan O Stitziel
Journal:  Proc Natl Acad Sci U S A       Date:  2016-07-18       Impact factor: 11.205

Review 2.  The Role of Pharmacogenetics in Atrial Fibrillation Therapeutics: Is Personalized Therapy in Sight?

Authors:  Dawood Darbar
Journal:  J Cardiovasc Pharmacol       Date:  2016-01       Impact factor: 3.105

Review 3.  Genetic testing in cardiovascular diseases.

Authors:  Anne-Karin Arndt; Calum A MacRae
Journal:  Curr Opin Cardiol       Date:  2014-05       Impact factor: 2.161

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
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.