Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing

Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

(2020) Gabriel Q. Shaibi et al.   GENETICS IN MEDICINE

Frequency of genomic secondary findings among 21,915 eMERGE network participants

(2020)   GENETICS IN MEDICINE

Clinical outcomes of a genomic screening program for actionable genetic conditions

(2020) Adam H. Buchanan et al.   GENETICS IN MEDICINE

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

(2020) Aniruddh P. Patel et al.   JAMA Network Open

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

(2019) Caroline F. Wright et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

(2019) Lei Zhang et al.   GENETICS IN MEDICINE

Early Lessons from the Implementation of Genomic Medicine Programs

(2019) Marc S. Williams   Annual Review of Genomics and Human Genetics

The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)

(2019)   GENETICS IN MEDICINE

Building evidence and measuring clinical outcomes for genomic medicine

(2019) Josh F Peterson et al.   LANCET

Identification of Misclassified ClinVar Variants via Disease Population Prevalence

(2018) Naisha Shah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome

(2018) S. Mohsen Hosseini et al.   CIRCULATION

Precision Medicine, Genome Sequencing, and Improved Population Health

(2018) W. Gregory Feero et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Correction: A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health

(2018) Muin J. Khoury et al.   PLOS MEDICINE

1 in 38 individuals at risk of a dominant medically actionable disease

(2018) Lonneke Haer-Wigman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study

(2018) M. Ragan Hart et al.   GENETICS IN MEDICINE

The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results

(2018) Iftikhar J. Kullo et al.   MAYO CLINIC PROCEEDINGS

No Shortcuts on the Long Road to Evidence-Based Genomic Medicine

(2017) Muin J. Khoury   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Prioritising the application of genomic medicine

(2017) Brett Doble et al.   npj Genomic Medicine

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

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

(2016) Sara L. Van Driest et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

(2016) P. Natarajan et al.   Science Translational Medicine

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network

(2015) Carlos J. Gallego et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database

(2015) Pål Møller et al.   GUT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

(2014)   GENETICS IN MEDICINE

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prioritizing Genomic Applications for Action by Level of Evidence: A Horizon-Scanning Method

(2013) W D Dotson et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The Mayo Clinic Biobank: A Building Block for Individualized Medicine

(2013) Janet E. Olson et al.   MAYO CLINIC PROCEEDINGS

SHRINE: Enabling Nationally Scalable Multi-Site Disease Studies

(2013) Andrew J. McMurry et al.   PLoS One

The Clinical Phenotype of Lynch Syndrome Due to Germ-Line PMS2 Mutations

(2008) Leigha Senter et al.   GASTROENTEROLOGY

Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics support

(2008) Paul A. Harris et al.   JOURNAL OF BIOMEDICAL INFORMATICS