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Author Details

James P Evans
University of North Carolina
1989
126
44
PMIDPaper TitleJournal TitlePublished Year
33966955Burden or benefit? Effects of providing education about and the option to request additional genomic findings from diagnostic exome sequencing: A randomized controlled trial.Patient Educ Couns2021
30567613Addressing perceived economic obstacles to genetic testing as a way to mitigate disparities in family health history for adoptees.Health Econ Policy Law2020
32028786Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients.Ann Otol Rhinol Laryngol2020
31808788DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps.JAMA2020
32342786From Genetics to Genomics: Facing the Liability Implications in Clinical Care.J Law Med Ethics2020
31312045Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes.Genet Med2020
31160753Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.Genet Med2019
30237575Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings.Genet Med2019
29875426Returning negative results to individuals in a genomic screening program: lessons learned.Genet Med2019
31341244Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes.Genet Med2019
29215648Happy birthday, Genetics in Medicine!Genet Med2018
30220682Healthcare Challenges Faced by Adopted Persons Lacking Family Health History Information.Narrat Inq Bioeth2018
30311382Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.Hum Mutat2018
30557390Increasing the diagnostic yield of exome sequencing by copy number variant analysis.PLoS One2018
30275001Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.Cold Spring Harb Mol Case Stud2018
29417091Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.Neurol Genet2018
29712475Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.Am J Psychiatry2018
29593351"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.Genet Med2018
29261173The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study.Genet Med2018
29323668Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).Genet Med2018
27996895Dr. Pangloss's Clinic: Prenatal Whole Genome Sequencing and a Return to Reality.Am J Bioeth2017
30086550Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity.Public Health Genomics2017
28492888Finding the Rare Pathogenic Variants in a Human Genome.JAMA2017
28260941Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review.Pharmgenomics Pers Med2017
29762926Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family.J Heart Valve Dis2017
28611029Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease.Circ Cardiovasc Genet2017
28518170Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.Genet Med2017
27854360Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.Genet Med2017
27811861A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Genet Med2017
27657676Mastering genomic terminology.Genet Med2017
26839654Genetics of coronary artery disease and myocardial infarction.World J Cardiol2016
29451552Plagiarism in submitted manuscripts: incidence, characteristics and optimization of screening-case study in a major specialty medical journal.Res Integr Peer Rev2016
26540154The promise and peril of genomic screening in the general population.Genet Med2016
26270767A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.Genet Med2016
26621581Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections.Clin Genet2016
27901440Does Lack of "Genetic-Relative Family Health History" Represent a Potentially Avoidable Health Disparity for Adoptees?Am J Bioeth2016
27901431Issues of "Cost, Capabilities, and Scope" in Characterizing Adoptees' Lack of "Genetic-Relative Family Health History" as an Avoidable Health Disparity: Response to Open Peer Commentaries on "Does Lack of 'Genetic-Relative Family Health History' Represent a Potentially Avoidable Health Disparity for Adoptees?"Am J Bioeth2016
27124788A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.Genet Med2016
27392080Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
27195307A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine.EGEMS (Wash DC)2016
27226358Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity.Oncologist2016
27181682Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
27083775Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.Clin Cancer Res2016
25232850Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews.Genet Med2015
26034952A public health perspective on a national precision medicine cohort: balancing long-term knowledge generation with early health benefit.JAMA2015
25920937The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.Am J Med Genet A2015
25910913High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.Am J Ophthalmol2015
25907378In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles.Br J Clin Pharmacol2015
25905442Can targeted genetic testing offer useful health information to adoptees?Genet Med2015
26014595ClinGen--the Clinical Genome Resource.N Engl J Med2015
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Collaborators

University of North Carolina
Co-authored papers 39
University of North Carolina at Chapel Hill
Co-authored papers 19
University of North Carolina-Chapel Hill
Co-authored papers 17
West Virginia University
Co-authored papers 14
The Heart Institute, Cincinnati Children's Hospital Medical Center
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Centers for Disease Control and Prevention Atlanta GA USA.
Co-authored papers 11
The University of North Carolina at Chapel Hill
Co-authored papers 10
Northwestern University
Co-authored papers 10
The Broad Institute of MIT and Harvard
Co-authored papers 9
USA Autism and Developmental Medicine Institute
Co-authored papers 8
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
Renaissance Computing Institute (RENCI), University of North Carolina at Chapel Hill
Co-authored papers 7
University of Washington Medical Center
Co-authored papers 7
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 6
Illumina Inc.
Co-authored papers 6
Center for Health Research, Kaiser Permanente Northwest
Co-authored papers 6
Baylor College of Medicine
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Law School and Medical School, University of Minnesota
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Center for Precision Medicine and Functional Genomics, Utah Tech University
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Boston Children's Hospital, Harvard Medical School
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Harvard Medical School
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Norton Children's Research Institute Affiliated with the University of Louisville
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Thomas Jefferson University
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