Literature DB >> 26447529

Your DNA is not your diagnosis: getting diagnoses right following secondary genomic findings.

Michael F Murray1.   

Abstract

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Year:  2015        PMID： 26447529     DOI： 10.1038/gim.2015.134

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  9 in total

Review 1.  The diagnostic process in general practice: has it a two-phase structure?

Authors:  A Baerheim
Journal:  Fam Pract       Date:  2001-06       Impact factor: 2.267

Review 2.  C-reactive protein and other emerging blood biomarkers to optimize risk stratification of vulnerable patients.

Authors:  Sotirios Tsimikas; James T Willerson; Paul M Ridker
Journal:  J Am Coll Cardiol       Date:  2006-04-18       Impact factor: 24.094

3.  Diagnostic clinical genome and exome sequencing.

Authors:  Leslie G Biesecker; Robert C Green
Journal:  N Engl J Med       Date:  2014-09-18       Impact factor: 91.245

4.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

5.  Taxonomizing, sizing, and overcoming the incidentalome.

Authors:  Isaac S Kohane; Michael Hsing; Sek Won Kong
Journal:  Genet Med       Date:  2012-02-09       Impact factor: 8.822

6.  Whole-genome sequencing of the world's oldest people.

Authors:  Hinco J Gierman; Kristen Fortney; Jared C Roach; Natalie S Coles; Hong Li; Gustavo Glusman; Glenn J Markov; Justin D Smith; Leroy Hood; L Stephen Coles; Stuart K Kim
Journal:  PLoS One       Date:  2014-11-12       Impact factor: 3.240

Review 7.  HFE-associated hereditary hemochromatosis.

Authors:  Jacob Alexander; Kris V Kowdley
Journal:  Genet Med       Date:  2009-05       Impact factor: 8.822

8.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Authors:  Robert C Green; Jonathan S Berg; Wayne W Grody; Sarah S Kalia; Bruce R Korf; Christa L Martin; Amy L McGuire; Robert L Nussbaum; Julianne M O'Daniel; Kelly E Ormond; Heidi L Rehm; Michael S Watson; Marc S Williams; Leslie G Biesecker
Journal:  Genet Med       Date:  2013-06-20       Impact factor: 8.822

Review 9.  Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

Authors:  Jonathan S Berg; Laura M Amendola; Christine Eng; Eliezer Van Allen; Stacy W Gray; Nikhil Wagle; Heidi L Rehm; Elizabeth T DeChene; Matthew C Dulik; Fuki M Hisama; Wylie Burke; Nancy B Spinner; Levi Garraway; Robert C Green; Sharon Plon; James P Evans; Gail P Jarvik
Journal:  Genet Med       Date:  2013-10-24       Impact factor: 8.822
  9 in total
  7 in total

Review 1.  Management of Secondary Genomic Findings.

Authors:  Alexander E Katz; Robert L Nussbaum; Benjamin D Solomon; Heidi L Rehm; Marc S Williams; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2020-07-02       Impact factor: 11.025

2.  A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.

Authors:  Marci L B Schwartz; Cara Zayac McCormick; Amanda L Lazzeri; D'Andra M Lindbuchler; Miranda L G Hallquist; Kandamurugu Manickam; Adam H Buchanan; Alanna Kulchak Rahm; Monica A Giovanni; Lauren Frisbie; Carroll N Flansburg; F Daniel Davis; Amy C Sturm; Christine Nicastro; Matthew S Lebo; Heather Mason-Suares; Lisa Marie Mahanta; David J Carey; Janet L Williams; Marc S Williams; David H Ledbetter; W Andrew Faucett; Michael F Murray
Journal:  Am J Hum Genet       Date:  2018-08-09       Impact factor: 11.025

3.  Interpretation of genomic sequencing: variants should be considered uncertain until proven guilty.

Authors:  Karen E Weck
Journal:  Genet Med       Date:  2018-02-01       Impact factor: 8.822

4.  Genetic counseling for patients with positive genomic screening results: Considerations for when the genetic test comes first.

Authors:  Marci L B Schwartz; Adam H Buchanan; Miranda L G Hallquist; Christopher M Haggerty; Amy C Sturm
Journal:  J Genet Couns       Date:  2021-03-31       Impact factor: 2.717

5.  Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants.

Authors:  Adam H Buchanan; Kandamurugu Manickam; Michelle N Meyer; Jennifer K Wagner; Miranda L G Hallquist; Janet L Williams; Alanna Kulchak Rahm; Marc S Williams; Zong-Ming E Chen; Chaitali K Shah; Tullika K Garg; Amanda L Lazzeri; Marci L B Schwartz; D'Andra M Lindbuchler; Audrey L Fan; Rosemary Leeming; Pedro O Servano; Ashlee L Smith; Victor G Vogel; Noura S Abul-Husn; Frederick E Dewey; Matthew S Lebo; Heather M Mason-Suares; Marylyn D Ritchie; F Daniel Davis; David J Carey; David T Feinberg; W Andrew Faucett; David H Ledbetter; Michael F Murray
Journal:  Genet Med       Date:  2017-10-26       Impact factor: 8.822

6.  Electronic health record phenotype in subjects with genetic variants associated with arrhythmogenic right ventricular cardiomyopathy: a study of 30,716 subjects with exome sequencing.

Authors:  Christopher M Haggerty; Cynthia A James; Hugh Calkins; Crystal Tichnell; Joseph B Leader; Dustin N Hartzel; Christopher D Nevius; Sarah A Pendergrass; Thomas N Person; Marci Schwartz; Marylyn D Ritchie; David J Carey; David H Ledbetter; Marc S Williams; Frederick E Dewey; Alexander Lopez; John Penn; John D Overton; Jeffrey G Reid; Matthew Lebo; Heather Mason-Suares; Christina Austin-Tse; Heidi L Rehm; Brian P Delisle; Daniel J Makowski; Vishal C Mehra; Michael F Murray; Brandon K Fornwalt
Journal:  Genet Med       Date:  2017-05-04       Impact factor: 8.822

7.  Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.

Authors:  Kandamurugu Manickam; Adam H Buchanan; Marci L B Schwartz; Miranda L G Hallquist; Janet L Williams; Alanna Kulchak Rahm; Heather Rocha; Juliann M Savatt; Alyson E Evans; Loren M Butry; Amanda L Lazzeri; D'Andra M Lindbuchler; Carroll N Flansburg; Rosemary Leeming; Victor G Vogel; Matthew S Lebo; Heather M Mason-Suares; Derick C Hoskinson; Noura S Abul-Husn; Frederick E Dewey; John D Overton; Jeffrey G Reid; Aris Baras; Huntington F Willard; Cara Z McCormick; Sarath B Krishnamurthy; Dustin N Hartzel; Korey A Kost; Daniel R Lavage; Amy C Sturm; Lauren R Frisbie; T Nate Person; Raghu P Metpally; Monica A Giovanni; Lacy E Lowry; Joseph B Leader; Marylyn D Ritchie; David J Carey; Anne E Justice; H Lester Kirchner; W Andrew Faucett; Marc S Williams; David H Ledbetter; Michael F Murray
Journal:  JAMA Netw Open       Date:  2018-09-07
  7 in total

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