Literature DB >> 30354302

From Genotype to Phenotype.

Michael Mackley1, Karen McGuire2, Jenny Taylor3,4, Hugh Watkins1,3,4, Elizabeth Ormondroyd1,4.   

Abstract

Entities:  

Keywords:  ethics; genotype; long QT syndrome; phenotype; public policy

Mesh：

Year:  2018        PMID： 30354302      PMCID： PMC6217934          DOI： 10.1161/CIRCGEN.118.002316

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  22 in total

Review 1.  Return of genetic testing results in the era of whole-genome sequencing.

Authors:  Bartha Maria Knoppers; Ma'n H Zawati; Karine Sénécal
Journal:  Nat Rev Genet       Date:  2015-08-04       Impact factor: 53.242

2.  Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Authors:  Martin H Ruwald; Xiaorong Xu Parks; Arthur J Moss; Wojciech Zareba; Jayson Baman; Scott McNitt; Jorgen K Kanters; Wataru Shimizu; Arthur A Wilde; Christian Jons; Coeli M Lopes
Journal:  Heart Rhythm       Date:  2015-08-28       Impact factor: 6.343

Review 3.  Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

Authors:  L Tranebjaerg; J Bathen; J Tyson; M Bitner-Glindzicz
Journal:  Am J Med Genet       Date:  1999-09-24

4.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

Authors:  Michael J Ackerman; Silvia G Priori; Stephan Willems; Charles Berul; Ramon Brugada; Hugh Calkins; A John Camm; Patrick T Ellinor; Michael Gollob; Robert Hamilton; Ray E Hershberger; Daniel P Judge; Hervè Le Marec; William J McKenna; Eric Schulze-Bahr; Chris Semsarian; Jeffrey A Towbin; Hugh Watkins; Arthur Wilde; Christian Wolpert; Douglas P Zipes
Journal:  Europace       Date:  2011-08       Impact factor: 5.214

Review 5.  Human genome sequencing in health and disease.

Authors:  Claudia Gonzaga-Jauregui; James R Lupski; Richard A Gibbs
Journal:  Annu Rev Med       Date:  2012       Impact factor: 13.739

6.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Authors:  Jamie D Kapplinger; David J Tester; Benjamin A Salisbury; Janet L Carr; Carole Harris-Kerr; Guido D Pollevick; Arthur A M Wilde; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2009-06-23       Impact factor: 6.343

7.  Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

Authors:  Grace Choi; Laura J Kopplin; David J Tester; Melissa L Will; Carla M Haglund; Michael J Ackerman
Journal:  Circulation       Date:  2004-10-04       Impact factor: 29.690

8.  What is the clinical utility of genetic testing?

Authors:  Scott D Grosse; Muin J Khoury
Journal:  Genet Med       Date:  2006-07       Impact factor: 8.822

9.  Participant use and communication of findings from exome sequencing: a mixed-methods study.

Authors:  Katie L Lewis; Gillian W Hooker; Philip D Connors; Travis C Hyams; Martha F Wright; Samantha Caldwell; Leslie G Biesecker; Barbara B Biesecker
Journal:  Genet Med       Date:  2015-11-05       Impact factor: 8.822

Review 10.  Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies.

Authors:  Michael P Mackley; Benjamin Fletcher; Michael Parker; Hugh Watkins; Elizabeth Ormondroyd
Journal:  Genet Med       Date:  2016-09-01       Impact factor: 8.822
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  2 in total

1.  A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.

Authors:  Julie C Sapp; Flavia M Facio; Diane Cooper; Katie L Lewis; Emily Modlin; Philip van der Wees; Leslie G Biesecker
Journal:  Genet Med       Date:  2021-08-26       Impact factor: 8.864

2.  Taking it to the bank: the ethical management of individual findings arising in secondary research.

Authors:  Mackenzie Graham; Nina Hallowell; Berge Solberg; Ari Haukkala; Joanne Holliday; Angeliki Kerasidou; Thomas Littlejohns; Elizabeth Ormondroyd; John-Arne Skolbekken; Marleena Vornanen
Journal:  J Med Ethics       Date:  2021-01-13       Impact factor: 2.903
  2 in total

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