Area of research
Genetics · Pulmonary and Respiratory Medicine
Research interest
Research focused on Genomic medicine and Genomics, with related work in Pharmacogenomics, Computational biology, Causality (physics). Notable publications include 'Guidelines for investigating causality of sequence variants in human disease', 'Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data', and 'The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future'.
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Returning integrated genomic risk and clinical recommendations: The eMERGE study
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?
Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups
Abstract 15209: <i>LPA</i> Variants Are Associated With Aortic Valve Stenosis, Heart Failure and Chronic Kidney Disease
SJS/TEN 2017: Building Multidisciplinary Networks to Drive Science and Translation
Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research
Genetic variation among 82 pharmacogenes: The PGRNseq data from the eMERGE network
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Global implementation of genomic medicine: We are not alone
A genome-wide association study identifies variants in KCNIP4 associated with ACE inhibitor-induced cough
Guidelines for investigating causality of sequence variants in human disease
Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems
Characterizing genetic variants for clinical action
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
The Electronic Medical Records and Genomics (eMERGE) Network: past, present, and future
Implementing genomic medicine in the clinic: the future is here
Detectable clonal mosaicism from birth to old age and its relationship to cancer
Assuring the quality of next-generation sequencing in clinical laboratory practice
New Models for Large Prospective Studies: Is There a Better Way?
<scp>CHRNB</scp>3 is more strongly associated with <scp>F</scp>agerström <scp>T</scp>est for <scp>C</scp>igarette <scp>D</scp>ependence‐based nicotine dependence than cigarettes per day: phenotype definition changes genome‐wide association studies results