Literature DB >> 22974025

The ever-evolving concept of clinical significance and the potential for sins of omission in genetic research.

Gregory Costain1, Anne S Bassett.   

Abstract

Mesh：

Year:  2012        PMID： 22974025      PMCID： PMC3754948          DOI： 10.1080/15265161.2012.699142

Source DB:  PubMed          Journal:  Am J Bioeth        ISSN： 1526-5161            Impact factor:   11.229


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  9 in total

1.  Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

Authors:  G Costain; E W C Chow; P N Ray; A S Bassett
Journal:  J Intellect Disabil Res       Date:  2011-12-06

Review 2.  Challenges in the identification and use of rare disease-associated predisposition variants.

Authors:  Luis G Carvajal-Carmona
Journal:  Curr Opin Genet Dev       Date:  2010-06       Impact factor: 5.578

3.  Personal factors associated with reported benefits of Huntington disease family history or genetic testing.

Authors:  Janet K Williams; Cheryl Erwin; Andrew Juhl; James Mills; Bradley Brossman; Jane S Paulsen
Journal:  Genet Test Mol Biomarkers       Date:  2010-08-19

4.  Effect of direct-to-consumer genomewide profiling to assess disease risk.

Authors:  Cinnamon S Bloss; Nicholas J Schork; Eric J Topol
Journal:  N Engl J Med       Date:  2011-01-12       Impact factor: 91.245

5.  Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives.

Authors:  Ben Chan; Flavia M Facio; Haley Eidem; Sara Chandros Hull; Leslie G Biesecker; Benjamin E Berkman
Journal:  Am J Bioeth       Date:  2012       Impact factor: 11.229

Review 6.  Risk factors for autism: translating genomic discoveries into diagnostics.

Authors:  Stephen W Scherer; Geraldine Dawson
Journal:  Hum Genet       Date:  2011-06-24       Impact factor: 4.132

7.  The return of results of deceased research participants.

Authors:  Anne Marie Tassé
Journal:  J Law Med Ethics       Date:  2011       Impact factor: 1.718

8.  The role of disease perceptions and results sharing in psychological adaptation after genetic susceptibility testing: the REVEAL Study.

Authors:  Sato Ashida; Laura M Koehly; J Scott Roberts; Clara A Chen; Susan Hiraki; Robert C Green
Journal:  Eur J Hum Genet       Date:  2010-07-28       Impact factor: 4.246

9.  Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study.

Authors:  Juli Murphy Bollinger; Joan Scott; Rachel Dvoskin; David Kaufman
Journal:  Genet Med       Date:  2012-03-08       Impact factor: 8.822
  9 in total
  3 in total

1.  Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

Authors:  Gregory Costain; Anath C Lionel; Daniele Merico; Pamela Forsythe; Kathryn Russell; Chelsea Lowther; Tracy Yuen; Janice Husted; Dimitri J Stavropoulos; Marsha Speevak; Eva W C Chow; Christian R Marshall; Stephen W Scherer; Anne S Bassett
Journal:  Hum Mol Genet       Date:  2013-06-27       Impact factor: 6.150

2.  Incomplete knowledge of the clinical context as a barrier to interpreting incidental genetic research findings.

Authors:  Gregory Costain; Anne S Bassett
Journal:  Am J Bioeth       Date:  2013       Impact factor: 11.229

3.  Response to open peer commentaries on "Genomic inheritances: disclosing individual research results from whole-exome sequencing to deceased participants' relatives".

Authors:  Sara Chandros Hull; Ben Chan; Leslie G Biesecker; Benjamin E Berkman
Journal:  Am J Bioeth       Date:  2012       Impact factor: 11.229
  3 in total

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