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| 37787745 | Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program. | Anesthesiology | 2024 |
| 36737471 | Evaluation of the portability of computable phenotypes with natural language processing in the eMERGE network. | Sci Rep | 2023 |
| 38065071 | Genomic medicine year in review: 2023. | Am J Hum Genet | 2023 |
| 37883979 | Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing. | Am J Hum Genet | 2023 |
| 37542411 | Low adenoma burden in unselected patients with a pathogenic APC variant. | Genet Med | 2023 |
| 37870835 | Testing and Management of Iron Overload After Genetic Screening-Identified Hemochromatosis. | JAMA Netw Open | 2023 |
| 37188259 | Designing implementation strategies to improve identification, cascade testing, and management of families with familial hypercholesterolemia: An intervention mapping approach. | Front Health Serv | 2023 |
| 37155986 | Population Genomic Screening for Three Common Hereditary Conditions : A Cost-Effectiveness Analysis. | Ann Intern Med | 2023 |
| 37382153 | Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening. | J Am Heart Assoc | 2023 |
| 37071725 | Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results. | Circ Genom Precis Med | 2023 |
| 37098602 | A picture is worth a thousand words: advancing the use of visualization tools in implementation science through process mapping and matrix heat mapping. | Implement Sci Commun | 2023 |
| 36621880 | Returning integrated genomic risk and clinical recommendations: The eMERGE study. | Genet Med | 2023 |
| 35175786 | Population Screening in Health Systems. | Annu Rev Genomics Hum Genet | 2022 |
| 35341655 | ClinGen's Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents. | Genet Med | 2022 |
| 35668420 | Observational study of population genomic screening for variants associated with endocrine tumor syndromes in a large, healthcare-based cohort. | BMC Med | 2022 |
| 35692820 | A RE-AIM Framework Analysis of DNA-Based Population Screening: Using Implementation Science to Translate Research Into Practice in a Healthcare System. | Front Genet | 2022 |
| 35488921 | The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review. | Hum Genet | 2022 |
| 35455722 | Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol. | J Pers Med | 2022 |
| 35862023 | Impact of a Population Genomic Screening Program on Health Behaviors Related to Familial Hypercholesterolemia Risk Reduction. | Circ Genom Precis Med | 2022 |
| 35485600 | A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources. | J Am Med Inform Assoc | 2022 |
| 35446370 | Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. | JAMA Oncol | 2022 |
| 36579594 | The Development of an Infrastructure to Facilitate the Use of Whole Genome Sequencing for Population Health. | J Pers Med | 2022 |
| 36459977 | Genomic Medicine Year in Review: 2022. | Am J Hum Genet | 2022 |
| 36143296 | Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative. | J Pers Med | 2022 |
| 35961838 | Cost-effectiveness of population-wide genomic screening for familial hypercholesterolemia in the United States. | J Clin Lipidol | 2022 |
| 36118861 | Population-based screening of newborns: Findings from the newborn screening expansion study (part two). | Front Genet | 2022 |
| 35943490 | Pathogenic variants in arteriopathy genes detected in a targeted sequencing study: Penetrance and 1-year outcomes after return of results. | Genet Med | 2022 |
| 35227606 | Cost-effectiveness of population-wide genomic screening for Lynch syndrome in the United States. | Genet Med | 2022 |
| 35216901 | The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network. | Genet Med | 2022 |
| 34906510 | Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates. | Genet Med | 2022 |
| 32952152 | Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. | Int J Obes (Lond) | 2021 |
| 33767345 | Universal newborn genetic screening for pediatric cancer predisposition syndromes: model-based insights. | Genet Med | 2021 |
| 33824430 | Cost-effectiveness analysis of genotyping for HLA-B*15:02 in Indonesian patients with epilepsy using a generic model. | Pharmacogenomics J | 2021 |
| 33741054 | Evaluation of a multidisciplinary lipid clinic to improve the care of individuals with severe lipid conditions: a RE-AIM framework analysis. | Implement Sci Commun | 2021 |
| 33849601 | Implementation strategies to improve statin utilization in individuals with hypercholesterolemia: a systematic review and meta-analysis. | Implement Sci | 2021 |
| 33841421 | Variants at the MHC Region Associate With Susceptibility to <i>Clostridioides difficile</i> Infection: A Genome-Wide Association Study Using Comprehensive Electronic Health Records. | Front Immunol | 2021 |
| 33585936 | A retrospective look at the predictions and recommendations from the 2009 AMIA policy meeting: did we see EHR-related clinician burnout coming? | J Am Med Inform Assoc | 2021 |
| 33886346 | Model-Based Re-Examination of the Effectiveness of Tumor/Immunohistochemistry and Direct-to-Sequencing Protocols for Lynch Syndrome Case Finding in Endometrial Cancer. | JCO Oncol Pract | 2021 |
| 34861172 | Genomic medicine year in review: 2021. | Am J Hum Genet | 2021 |
| 35072136 | GA4GH: International policies and standards for data sharing across genomic research and healthcare. | Cell Genom | 2021 |
| 34945755 | Economic Evaluation of Universal Lynch Syndrome Screening Protocols among Newly Diagnosed Patients with Colorectal Cancer. | J Pers Med | 2021 |
| 34646007 | Correction to: Early cancer diagnoses through BRCA1/2 screening of unselected adult biobank participants. | Genet Med | 2021 |
| 34377931 | Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network. | JNCI Cancer Spectr | 2021 |
| 33962988 | User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis. | BMJ Health Care Inform | 2021 |
| 33982866 | Cross-cultural representations of conjoined twins. | Am J Med Genet C Semin Med Genet | 2021 |
| 34207127 | Polycystic Ovary Syndrome Susceptibility Loci Inform Disease Etiological Heterogeneity. | J Clin Med | 2021 |
| 33979874 | Infobuttons for Genomic Medicine: Requirements and Barriers. | Appl Clin Inform | 2021 |
| 33164089 | Misdiagnosis: Burnout, moral injury, and implications for the electronic health record. | J Am Med Inform Assoc | 2021 |
| 33332786 | Genome-wide Association Analysis Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis. | Spine (Phila Pa 1976) | 2021 |
| 33417889 | A dyadic approach to the delineation of diagnostic entities in clinical genomics. | Am J Hum Genet | 2021 |