Published in N Engl J Med on May 27, 2015
Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med (2015) 4.77
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet (2016) 1.44
Personal Genomic Testing for Cancer Risk: Results From the Impact of Personal Genomics Study. J Clin Oncol (2016) 1.42
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet (2016) 1.35
Translating RNA sequencing into clinical diagnostics: opportunities and challenges. Nat Rev Genet (2016) 1.12
Developing and evaluating polygenic risk prediction models for stratified disease prevention. Nat Rev Genet (2016) 1.05
Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn (2016) 0.89
Acquisition, Analysis, and Sharing of Data in 2015 and Beyond: A Survey of the Landscape: A Conference Report From the American Heart Association Data Summit 2015. J Am Heart Assoc (2015) 0.84
Clinical application of genomic profiling to find druggable targets for adolescent and young adult (AYA) cancer patients with metastasis. BMC Cancer (2016) 0.82
Developing context-specific next-generation sequencing policy. Nat Biotechnol (2016) 0.82
Clinical Application of Targeted Deep Sequencing in Solid-Cancer Patients; Utility of Targeted Deep Sequencing for Biomarker-Selected Clinical Trial. Oncologist (2017) 0.79
The FDA and genetic testing. N Engl J Med (2015) 0.78
Principles for Developing Patient Avatars in Precision and Systems Medicine. Front Genet (2016) 0.77
Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer. PLoS Genet (2016) 0.76
Improving medical students' knowledge of genetic disease: a review of current and emerging pedagogical practices. Adv Med Educ Pract (2015) 0.75
Acquiring evidence for precision prostate cancer care. Ann Oncol (2017) 0.75
Response to Sosnay et al. Genet Med (2015) 0.75
Systematic Molecular Phenotyping: A Path Toward Precision Emergency Medicine? Acad Emerg Med (2016) 0.75
Barriers to clinical adoption of next generation sequencing: Perspectives of a policy Delphi panel. Appl Transl Genom (2016) 0.75
Precision reproductive medicine: multigene panel testing for infertility risk assessment. J Assist Reprod Genet (2017) 0.75
Payer Coverage for Hereditary Cancer Panels: Barriers, Opportunities, and Implications for the Precision Medicine Initiative. J Natl Compr Canc Netw (2017) 0.75
A new initiative on precision medicine. N Engl J Med (2015) 16.03
Clinical interpretation and implications of whole-genome sequencing. JAMA (2014) 7.24
ACMG clinical laboratory standards for next-generation sequencing. Genet Med (2013) 5.30
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Taxonomizing, sizing, and overcoming the incidentalome. Genet Med (2012) 3.82
CLIA program and HIPAA privacy rule; patients' access to test reports. Final rule. Fed Regist (2014) 1.46
FDA regulation of laboratory-developed diagnostic tests: protect the public, advance the science. JAMA (2015) 1.31
Genetic testing and FDA regulation: overregulation threatens the emergence of genomic medicine. JAMA (2015) 1.30
Development of the clinical next-generation sequencing industry in a shifting policy climate. Nat Biotechnol (2014) 1.26
Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes. Genet Med (2013) 1.06
International network of cancer genome projects. Nature (2010) 20.35
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. CA Cancer J Clin (2007) 12.19
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med Genomics (2011) 9.20
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. Circ Cardiovasc Genet (2010) 6.74
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
An unwelcome side effect of direct-to-consumer personal genome testing: raiding the medical commons. JAMA (2008) 5.25
Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA (2006) 4.87
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol (2013) 4.85
Reporting genetic results in research studies: summary and recommendations of an NHLBI working group. Am J Med Genet A (2006) 4.56
Offering individual genetic research results: context matters. Sci Transl Med (2010) 4.51
American Cancer Society guidelines for breast cancer screening: update 2003. CA Cancer J Clin (2003) 4.43
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future. Genet Med (2013) 4.37
Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J Am Med Inform Assoc (2011) 4.20
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. Am J Hum Genet (2011) 3.85
Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nat Genet (2012) 3.68
Reconsidering the family history in primary care. J Gen Intern Med (2004) 3.50
Genomic research and wide data sharing: views of prospective participants. Genet Med (2010) 3.45
National Institutes of Health State-of-the-Science Conference: role of active surveillance in the management of men with localized prostate cancer. Ann Intern Med (2012) 3.44
Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network. Genet Med (2012) 3.29
Glad you asked: participants' opinions of re-consent for dbGap data submission. J Empir Res Hum Res Ethics (2010) 3.29
Recommendations for returning genomic incidental findings? We need to talk! Genet Med (2013) 3.23
Potential for genetics to promote public health: genetics research on smoking suggests caution about expectations. JAMA (2006) 3.20
ASHG Statement* on direct-to-consumer genetic testing in the United States. Obstet Gynecol (2007) 3.19
Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis. Am J Respir Crit Care Med (2008) 2.64
National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health. Ann Intern Med (2009) 2.58
Newborn screening technology: proceed with caution. Pediatrics (2006) 2.54
Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53
Science and regulation. Regulating direct-to-consumer personal genome testing. Science (2010) 2.40
A formal risk-benefit framework for genomic tests: facilitating the appropriate translation of genomics into clinical practice. Genet Med (2010) 2.40
The genomic applications in practice and prevention network. Genet Med (2009) 2.39
Presence of intraplaque hemorrhage stimulates progression of carotid atherosclerotic plaques: a high-resolution magnetic resonance imaging study. Circulation (2005) 2.36
Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery. J Thorac Cardiovasc Surg (2003) 2.25
Periventricular leukomalacia is common after neonatal cardiac surgery. J Thorac Cardiovasc Surg (2004) 2.19
Pharmacogenetic testing: not as simple as it seems. Genet Med (2008) 2.18
Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15
Genomic profiling to promote a healthy lifestyle: not ready for prime time. Nat Genet (2003) 2.11
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium. Genet Med (2013) 2.08
Novel late-onset Alzheimer disease loci variants associate with brain gene expression. Neurology (2012) 2.08
Genome- and phenome-wide analyses of cardiac conduction identifies markers of arrhythmia risk. Circulation (2013) 2.06
Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. Hum Genet (2011) 2.00
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn (2012) 1.99
Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96
A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. Am J Hum Genet (2005) 1.96
Technical desiderata for the integration of genomic data into Electronic Health Records. J Biomed Inform (2011) 1.96
Next-generation sequencing in the clinic: are we ready? Nat Rev Genet (2012) 1.95
Perioperative stroke in infants undergoing open heart operations for congenital heart disease. Ann Thorac Surg (2009) 1.82
The OHRP and SUPPORT. N Engl J Med (2013) 1.78
Determination of paraoxonase 1 status without the use of toxic organophosphate substrates. Circ Cardiovasc Genet (2008) 1.76
Arterial remodeling in [corrected] subclinical carotid artery disease. JACC Cardiovasc Imaging (2009) 1.74
Patient characteristics are important determinants of neurodevelopmental outcome at one year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2007) 1.71
Design, implementation, and first-year outcomes of a value-based drug formulary. J Manag Care Spec Pharm (2015) 1.67
Complement receptor 1 gene variants are associated with erythrocyte sedimentation rate. Am J Hum Genet (2011) 1.66
The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery. J Thorac Cardiovasc Surg (2005) 1.65
Researcher perspectives on disclosure of incidental findings in genetic research. J Empir Res Hum Res Ethics (2010) 1.55
Neurodevelopmental outcomes after staged palliation for hypoplastic left heart syndrome. Pediatrics (2008) 1.55
Functional genomic of the paraoxonase (PON1) polymorphisms: effects on pesticide sensitivity, cardiovascular disease, and drug metabolism. Annu Rev Med (2001) 1.51
Differential use of available genetic tests among primary care physicians in the United States: results of a national survey. Genet Med (2008) 1.51
Clinical decisions. Screening an asymptomatic person for genetic risk. N Engl J Med (2014) 1.51
Postoperative electroencephalographic seizures are associated with deficits in executive function and social behaviors at 4 years of age following cardiac surgery in infancy. J Thorac Cardiovasc Surg (2013) 1.50
Informed Consent in Genome-Scale Research: What Do Prospective Participants Think? AJOB Prim Res (2012) 1.50
Predictors of carotid atherosclerotic plaque progression as measured by noninvasive magnetic resonance imaging. Atherosclerosis (2006) 1.48
Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium. Genet Med (2010) 1.47
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. Hum Genet (2013) 1.47
Increasing duration of deep hypothermic circulatory arrest is associated with an increased incidence of postoperative electroencephalographic seizures. J Thorac Cardiovasc Surg (2005) 1.45
Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer (2008) 1.45
Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med (2011) 1.44
Leveraging the electronic health record to implement genomic medicine. Genet Med (2012) 1.42
Current priorities for public health practice in addressing the role of human genomics in improving population health. Am J Prev Med (2011) 1.36
Taking family history seriously. Ann Intern Med (2005) 1.36
Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q. J Lipid Res (2009) 1.34
Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: variant reclassification and surgical decisions. Genet Med (2011) 1.32
Polymorphisms of the IL1-receptor antagonist gene (IL1RN) are associated with multiple markers of systemic inflammation. Arterioscler Thromb Vasc Biol (2008) 1.32
Apolipoprotein E genotype modifies the risk of behavior problems after infant cardiac surgery. Pediatrics (2009) 1.30
Diverse perceptions of the informed consent process: implications for the recruitment and participation of diverse communities in the National Children's Study. Am J Community Psychol (2012) 1.28
Trends in death associated with pediatric dental sedation and general anesthesia. Paediatr Anaesth (2013) 1.28
Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27
Gene expression profiling and breast cancer care: what are the potential benefits and policy implications? Genet Med (2005) 1.27
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet (2013) 1.27
Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. Genet Epidemiol (2011) 1.26
Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy? J Thorac Cardiovasc Surg (2010) 1.24
Paraoxonase 1 (PON1) status and substrate hydrolysis. Toxicol Appl Pharmacol (2008) 1.21
CLIA-tested genetic variants on commercial SNP arrays: potential for incidental findings in genome-wide association studies. Genet Med (2010) 1.21
Ethical issues in identifying and recruiting participants for familial genetic research. Am J Med Genet A (2004) 1.20
Offering aggregate results to participants in genomic research: opportunities and challenges. Genet Med (2012) 1.19
An economic viewpoint on alternative strategies for identifying persons with hereditary nonpolyposis colorectal cancer. Genet Med (2003) 1.18
Predictors of impaired neurodevelopmental outcomes at one year of age after infant cardiac surgery. Eur J Cardiothorac Surg (2009) 1.17
Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Genet Med (2013) 1.16
Return of results: ethical and legal distinctions between research and clinical care. Am J Med Genet C Semin Med Genet (2014) 1.16
NIH State-of-the-Science Conference Statement: Role of active surveillance in the management of men with localized prostate cancer. NIH Consens State Sci Statements (2013) 1.14