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A case for expanding carrier testing to include actionable X-linked disorders

artículo científico publicado en 2018

A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

artículo científico publicado en 2016

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

artículo científico publicado en 2015

Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience

scientific article published on 21 August 2018

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

artículo científico publicado en 2016

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

article

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing

artículo científico publicado en 2015

Discordance in selected designee for return of genomic findings in the event of participant death and estate executor

artículo científico publicado en 2017

Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing

artículo científico publicado en 2017

Genomic Sequencing Results Disclosure in Diverse and Medically Underserved Populations: Themes, Challenges, and Strategies from the CSER Consortium

artículo científico publicado en 2021

Is "incidental finding" the best term?: a study of patients' preferences

artículo científico publicado en 2016

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium

artículo científico

Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death

artículo científico publicado en 2015

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Return of genomic results to research participants: the floor, the ceiling, and the choices in between

artículo científico publicado en 2014

Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT).

artículo científico publicado en 2013