Literature DB >> 20031572

Defining the pathogenicity of DNA sequence variation.

Carolyn Y Ho, Calum A MacRae.   

Abstract

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Mesh：

Year:  2009        PMID： 20031572      PMCID： PMC3068192          DOI： 10.1161/CIRCGENETICS.109.864793

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


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  22 in total

1.  A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.

Authors:  K N North; N Yang; D Wattanasirichaigoon; M Mills; S Easteal; A H Beggs
Journal:  Nat Genet       Date:  1999-04       Impact factor: 38.330

Review 2.  Phenotypic diversity in hypertrophic cardiomyopathy.

Authors:  Michael Arad; J G Seidman; Christine E Seidman
Journal:  Hum Mol Genet       Date:  2002-10-01       Impact factor: 6.150

Review 3.  A probabilistic view of gene function.

Authors:  Andrew G Fraser; Edward M Marcotte
Journal:  Nat Genet       Date:  2004-06       Impact factor: 38.330

Review 4.  Drug-induced prolongation of the QT interval.

Authors:  Dan M Roden
Journal:  N Engl J Med       Date:  2004-03-04       Impact factor: 91.245

5.  Trait components provide tools to dissect the genetic susceptibility of migraine.

Authors:  V Anttila; M Kallela; G Oswell; M A Kaunisto; D R Nyholt; E Hamalainen; H Havanka; M Ilmavirta; J Terwilliger; E Sobel; L Peltonen; J Kaprio; M Farkkila; M Wessman; A Palotie
Journal:  Am J Hum Genet       Date:  2006-05-10       Impact factor: 11.025

6.  "Phenome" project set to pin down subgroups of autism.

Authors:  Emily Singer
Journal:  Nat Med       Date:  2005-06       Impact factor: 53.440

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.  Psychiatric genetics: search for phenotypes.

Authors:  M Leboyer; F Bellivier; M Nosten-Bertrand; R Jouvent; D Pauls; J Mallet
Journal:  Trends Neurosci       Date:  1998-03       Impact factor: 13.837

9.  Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib.

Authors:  Thomas J Lynch; Daphne W Bell; Raffaella Sordella; Sarada Gurubhagavatula; Ross A Okimoto; Brian W Brannigan; Patricia L Harris; Sara M Haserlat; Jeffrey G Supko; Frank G Haluska; David N Louis; David C Christiani; Jeff Settleman; Daniel A Haber
Journal:  N Engl J Med       Date:  2004-04-29       Impact factor: 91.245

10.  Integrating interactome, phenome, and transcriptome mapping data for the C. elegans germline.

Authors:  Albertha J M Walhout; Jérôme Reboul; Olena Shtanko; Nicolas Bertin; Philippe Vaglio; Hui Ge; Hongmei Lee; Lynn Doucette-Stamm; Kristin C Gunsalus; Aaron J Schetter; Diane G Morton; Kenneth J Kemphues; Valerie Reinke; Stuart K Kim; Fabio Piano; Marc Vidal
Journal:  Curr Biol       Date:  2002-11-19       Impact factor: 10.834
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  9 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.  Future translational applications from the contemporary genomics era: a scientific statement from the American Heart Association.

Authors:  Caroline S Fox; Jennifer L Hall; Donna K Arnett; Euan A Ashley; Christian Delles; Mary B Engler; Mason W Freeman; Julie A Johnson; David E Lanfear; Stephen B Liggett; Aldons J Lusis; Joseph Loscalzo; Calum A MacRae; Kiran Musunuru; L Kristin Newby; Christopher J O'Donnell; Stephen S Rich; Andre Terzic
Journal:  Circulation       Date:  2015-04-16       Impact factor: 29.690

3.  Using genetic testing to guide therapeutic decisions in cardiomyopathy.

Authors:  Neal K Lakdawala
Journal:  Curr Treat Options Cardiovasc Med       Date:  2013-08

Review 4.  Genetic testing in cardiovascular diseases.

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

5.  Genetic testing for dilated cardiomyopathy in clinical practice.

Authors:  Neal K Lakdawala; Birgit H Funke; Samantha Baxter; Allison L Cirino; Amy E Roberts; Daniel P Judge; Nicole Johnson; Nancy J Mendelsohn; Chantal Morel; Melanie Care; Wendy K Chung; Carolyn Jones; Apostolos Psychogios; Elizabeth Duffy; Heidi L Rehm; Emily White; J G Seidman; Christine E Seidman; Carolyn Y Ho
Journal:  J Card Fail       Date:  2012-02-15       Impact factor: 5.712

Review 6.  Mendelian forms of structural cardiovascular disease.

Authors:  Calum A MacRae
Journal:  Curr Cardiol Rep       Date:  2013-10       Impact factor: 2.931

7.  Return of genetic results in the familial dilated cardiomyopathy research project.

Authors:  Jill D Siegfried; Ana Morales; Jessica D Kushner; Emily Burkett; Jason Cowan; Ana Clara Mauro; Gordon S Huggins; Duanxiang Li; Nadine Norton; Ray E Hershberger
Journal:  J Genet Couns       Date:  2012-08-11       Impact factor: 2.537

8.  Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era.

Authors:  Nadine Norton; Peggy D Robertson; Mark J Rieder; Stephan Züchner; Evadnie Rampersaud; Eden Martin; Duanxiang Li; Deborah A Nickerson; Ray E Hershberger
Journal:  Circ Cardiovasc Genet       Date:  2012-02-15

9.  Utility of Genetic Testing in Long QT Syndrome.

Authors:  Calum A MacRae
Journal:  Circulation       Date:  2010-06-15       Impact factor: 29.690
  9 in total

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