|
| 36310386 | The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey. | Phys Occup Ther Pediatr | 2023 |
| 37489489 | Age-Based Genomic Screening during Childhood: Ethical and Practical Considerations in Public Health Genomics Implementation. | Int J Neonatal Screen | 2023 |
| 37470118 | Parent-Reported Clinical Utility of Pediatric Genomic Sequencing. | Pediatrics | 2023 |
| 37066232 | Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms. | medRxiv | 2023 |
| 36689884 | Question prompt lists and caregiver question asking in pediatric specialty appointments: A randomized controlled trial. | Patient Educ Couns | 2023 |
| 36681451 | Uromodulin and CKD: insight into variant pathogenicity. | Kidney Int | 2023 |
| 34265090 | Noninvasive prenatal exome sequencing diagnostic utility limited by sequencing depth and fetal fraction. | Prenat Diagn | 2022 |
| 35507016 | The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. | Genet Med | 2022 |
| 35838066 | Newborn screening for neurodevelopmental diseases: Are we there yet? | Am J Med Genet C Semin Med Genet | 2022 |
| 35394431 | A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders. | Genet Med | 2022 |
| 35754516 | Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation. | Cell Genom | 2022 |
| 35629115 | The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. | J Pers Med | 2022 |
| 36434579 | Development and initial testing of a multi-stakeholder intervention for Lynch syndrome cascade screening: an intervention mapping approach. | BMC Health Serv Res | 2022 |
| 35314103 | Quality of care metrics for patients with inborn errors of metabolism. | Mol Genet Metab | 2022 |
| 35034852 | Testing and extending strategies for identifying genetic disease-related encounters in pediatric patients. | Genet Med | 2022 |
| 34906467 | A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders. | Genet Med | 2022 |
| 34906461 | US private payers' perspectives on insurance coverage for genome sequencing versus exome sequencing: A study by the Clinical Sequencing Evidence-Generating Research Consortium (CSER). | Genet Med | 2022 |
| 34694049 | Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification. | Hum Mutat | 2022 |
| 30448267 | A behavior-theoretic evaluation of values clarification on parental beliefs and intentions toward genomic sequencing for newborns. | Soc Sci Med | 2021 |
| 33781310 | Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making. | Genome Med | 2021 |
| 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 |
| 33964450 | A Validated Functional Analysis of Partner and Localizer of BRCA2 Missense Variants for Use in Clinical Variant Interpretation. | J Mol Diagn | 2021 |
| 34127041 | 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. | Trials | 2021 |
| 34284719 | Pre-capture multiplexing provides additional power to detect copy number variation in exome sequencing. | BMC Bioinformatics | 2021 |
| 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 |
| 33948230 | Lessons learned about harmonizing survey measures for the CSER consortium. | J Clin Transl Sci | 2020 |
| 31857707 | Parents' perceptions of personal utility of exome sequencing results. | Genet Med | 2020 |
| 31886693 | Values clarification and parental decision making about newborn genomic sequencing. | Health Psychol | 2020 |
| 32066678 | Treatment-resistant psychotic symptoms and the 15q11.2 BP1-BP2 (Burnside-Butler) deletion syndrome: case report and review of the literature. | Transl Psychiatry | 2020 |
| 31974414 | An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. | Genet Med | 2020 |
| 33026293 | Engaging community stakeholders in research on best practices for clinical genomic sequencing. | Per Med | 2020 |
| 32943312 | Treatment-resistant psychotic symptoms and early-onset dementia: A case report of the 3q29 deletion syndrome. | Schizophr Res | 2020 |
| 32853555 | Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project. | Am J Hum Genet | 2020 |
| 32555414 | Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. | Genet Med | 2020 |
| 32424581 | Parental Views on Newborn Next Generation Sequencing: Implications for Decision Support. | Matern Child Health J | 2020 |
| 32125936 | Assessing the implications of positive genomic screening results. | Per Med | 2020 |
| 30287922 | Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study. | Genet Med | 2019 |
| 31783775 | Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels. | Genome Med | 2019 |
| 31839987 | FDA oversight of NSIGHT genomic research: the need for an integrated systems approach to regulation. | NPJ Genom Med | 2019 |
| 31862013 | Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation. | Genome Med | 2019 |
| 30237575 | Factors influencing NCGENES research participants' requests for non-medically actionable secondary findings. | Genet Med | 2019 |
| 30181607 | Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future. | Genet Med | 2019 |
| 31267131 | Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. | Hum Mol Genet | 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 |
| 31028355 | Expert and lay perspectives on burden, risk, tolerability, and acceptability of clinical interventions for genetic disorders. | Genet Med | 2019 |
| 30851990 | An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening. | J Pediatr | 2019 |
| 28771249 | Parental preferences toward genomic sequencing for non-medically actionable conditions in children: a discrete-choice experiment. | Genet Med | 2018 |
| 30193136 | The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. | Am J Hum Genet | 2018 |
| 29866652 | Identification of Clonal Hematopoiesis Mutations in Solid Tumor Patients Undergoing Unpaired Next-Generation Sequencing Assays. | Clin Cancer Res | 2018 |
| 30133189 | Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience. | Mol Genet Genomic Med | 2018 |