Literature DB >> 25326641

Genome-scale sequencing in clinical care: establishing molecular diagnoses and measuring value.

Jonathan S Berg1.   

Abstract

Mesh：

Year:  2014        PMID： 25326641     DOI： 10.1001/jama.2014.14665

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  12 in total

1.  Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies.

Authors:  Josephine Johnston; John D Lantos; Aaron Goldenberg; Flavia Chen; Erik Parens; Barbara A Koenig
Journal:  Hastings Cent Rep       Date:  2018-07       Impact factor: 2.683

Review 2.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

Review 3.  Genetics of Disorders of Sex Development: The DSD-TRN Experience.

Authors:  Emmanuèle C Délot; Jeanette C Papp; David E Sandberg; Eric Vilain
Journal:  Endocrinol Metab Clin North Am       Date:  2017-03-28       Impact factor: 4.741

4.  The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing.

Authors:  Debra Skinner; Kelly A Raspberry; Martha King
Journal:  Sociol Health Illn       Date:  2016-08-19

Review 5.  Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

Authors:  Natasha T Strande; Jonathan S Berg
Journal:  Annu Rev Genomics Hum Genet       Date:  2016-05-26       Impact factor: 8.929

6.  DECIDE: a Decision Support Tool to Facilitate Parents' Choices Regarding Genome-Wide Sequencing.

Authors:  Patricia Birch; S Adam; N Bansback; R R Coe; J Hicklin; A Lehman; K C Li; J M Friedman
Journal:  J Genet Couns       Date:  2016-05-23       Impact factor: 2.537

Review 7.  Hereditary cancer risk assessment: challenges for the next-gen sequencing era.

Authors:  Hugo Pinheiro; Patrícia Oliveira; Carla Oliveira
Journal:  Front Oncol       Date:  2015-03-23       Impact factor: 6.244

Review 8.  Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.

Authors:  Hadley Stevens Smith; J Michael Swint; Seema R Lalani; Jose-Miguel Yamal; Marcia C de Oliveira Otto; Stephan Castellanos; Amy Taylor; Brendan H Lee; Heidi V Russell
Journal:  Genet Med       Date:  2018-05-14       Impact factor: 8.822

9.  Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.

Authors:  Jonathan S Berg; Jeannette T Bensen; Brooke S Staley; Laura V Milko; Margaret Waltz; Ida Griesemer; Lonna Mollison; Tracey L Grant; Laura Farnan; Myra Roche; Angelo Navas; Alexandra Lightfoot; Ann Katherine M Foreman; Julianne M O'Daniel; Suzanne C O'Neill; Feng-Chang Lin; Tamara S Roman; Alicia Brandt; Bradford C Powell; Christine Rini
Journal:  Trials       Date:  2021-06-14       Impact factor: 2.279

Review 10.  Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.

Authors:  Gabrielle Bertier; Martin Hétu; Yann Joly
Journal:  BMC Med Genomics       Date:  2016-08-11       Impact factor: 3.063
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