| 33966955 | Burden 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 Couns | 2021 |
| 30567613 | Addressing perceived economic obstacles to genetic testing as a way to mitigate disparities in family health history for adoptees. | Health Econ Policy Law | 2020 |
| 32028786 | Congenital Midline Cervical Cleft: First Report and Genetic Analysis of Two Related Patients. | Ann Otol Rhinol Laryngol | 2020 |
| 31808788 | DNA-Based Population Screening: Potential Suitability and Important Knowledge Gaps. | JAMA | 2020 |
| 32342786 | From Genetics to Genomics: Facing the Liability Implications in Clinical Care. | J Law Med Ethics | 2020 |
| 31312045 | Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes. | Genet Med | 2020 |
| 31160753 | Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines. | Genet Med | 2019 |
| 30237575 | Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings. | Genet Med | 2019 |
| 29875426 | Returning negative results to individuals in a genomic screening program: lessons learned. | Genet Med | 2019 |
| 31341244 | Correction: Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes. | Genet Med | 2019 |
| 29215648 | Happy birthday, Genetics in Medicine! | Genet Med | 2018 |
| 30220682 | Healthcare Challenges Faced by Adopted Persons Lacking Family Health History Information. | Narrat Inq Bioeth | 2018 |
| 30311382 | Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. | Hum Mutat | 2018 |
| 30557390 | Increasing the diagnostic yield of exome sequencing by copy number variant analysis. | PLoS One | 2018 |
| 30275001 | Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case. | Cold Spring Harb Mol Case Stud | 2018 |
| 29417091 | Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders. | Neurol Genet | 2018 |
| 29712475 | Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease. | Am J Psychiatry | 2018 |
| 29593351 | "Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing. | Genet Med | 2018 |
| 29261173 | The who, what, and why of research participants' intentions to request a broad range of secondary findings in a diagnostic genomic sequencing study. | Genet Med | 2018 |
| 29323668 | Professional 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 Med | 2018 |
| 27996895 | Dr. Pangloss's Clinic: Prenatal Whole Genome Sequencing and a Return to Reality. | Am J Bioeth | 2017 |
| 30086550 | Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity. | Public Health Genomics | 2017 |
| 28492888 | Finding the Rare Pathogenic Variants in a Human Genome. | JAMA | 2017 |
| 28260941 | Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review. | Pharmgenomics Pers Med | 2017 |
| 29762926 | Genetic Complexity of Mitral Valve Prolapse Revealed by Clinical and Genetic Evaluation of a Large Family. | J Heart Valve Dis | 2017 |
| 28611029 | Whole Exome Sequencing Identifies Truncating Variants in Nuclear Envelope Genes in Patients With Cardiovascular Disease. | Circ Cardiovasc Genet | 2017 |
| 28518170 | Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges. | Genet Med | 2017 |
| 27854360 | Recommendations 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 Med | 2017 |
| 27811861 | A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. | Genet Med | 2017 |
| 27657676 | Mastering genomic terminology. | Genet Med | 2017 |
| 26839654 | Genetics of coronary artery disease and myocardial infarction. | World J Cardiol | 2016 |
| 29451552 | Plagiarism in submitted manuscripts: incidence, characteristics and optimization of screening-case study in a major specialty medical journal. | Res Integr Peer Rev | 2016 |
| 26540154 | The promise and peril of genomic screening in the general population. | Genet Med | 2016 |
| 26270767 | A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing. | Genet Med | 2016 |
| 26621581 | Pathogenic FBN1 variants in familial thoracic aortic aneurysms and dissections. | Clin Genet | 2016 |
| 27901440 | Does Lack of "Genetic-Relative Family Health History" Represent a Potentially Avoidable Health Disparity for Adoptees? | Am J Bioeth | 2016 |
| 27901431 | Issues 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 Bioeth | 2016 |
| 27124788 | A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. | Genet Med | 2016 |
| 27392080 | Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. | Am J Hum Genet | 2016 |
| 27195307 | A New Framework and Prototype Solution for Clinical Decision Support and Research in Genomics and Other Data-intensive Fields of Medicine. | EGEMS (Wash DC) | 2016 |
| 27226358 | Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity. | Oncologist | 2016 |
| 27181682 | Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. | Am J Hum Genet | 2016 |
| 27083775 | Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings. | Clin Cancer Res | 2016 |
| 25232850 | Genomic screening of the general adult population: key concepts for assessing net benefit with systematic evidence reviews. | Genet Med | 2015 |
| 26034952 | A public health perspective on a national precision medicine cohort: balancing long-term knowledge generation with early health benefit. | JAMA | 2015 |
| 25920937 | The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review. | Am J Med Genet A | 2015 |
| 25910913 | High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting. | Am J Ophthalmol | 2015 |
| 25907378 | In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles. | Br J Clin Pharmacol | 2015 |
| 25905442 | Can targeted genetic testing offer useful health information to adoptees? | Genet Med | 2015 |
| 26014595 | ClinGen--the Clinical Genome Resource. | N Engl J Med | 2015 |