Leading the way to genomic medicine

Characterizing genetic variants for clinical action

(2014) Erin M. Ramos et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The growing role of professional societies in educating clinicians in genomics

(2014) Teri A. Manolio et al.   GENETICS IN MEDICINE

Implementing genomic medicine in the clinic: the future is here

(2013) Teri A. Manolio et al.   GENETICS IN MEDICINE

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Implementation Science six years on—our evolving scope and common reasons for rejection without review

(2012) Martin P Eccles et al.   Implementation Science

The eMERGE Network: A consortium of biorepositories linked to electronic medical records data for conducting genomic studies

(2011) Catherine A McCarty et al.   BMC Medical Genomics

CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network

(2011) M V Relling et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Genomics Education for Health Care Professionals in the 21st Century

(2011) W. Gregory Feero et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Charting a course for genomic medicine from base pairs to bedside

(2011) Eric D. Green et al.   NATURE

A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome

(2011) Marjorie J. Lindhurst et al.   NEW ENGLAND JOURNAL OF MEDICINE

NT5EMutations and Arterial Calcifications

(2011) Cynthia St. Hilaire et al.   NEW ENGLAND JOURNAL OF MEDICINE

Whole-Genome Sequencing for Optimized Patient Management

(2011) M. N. Bainbridge et al.   Science Translational Medicine

Robust Replication of Genotype-Phenotype Associations across Multiple Diseases in an Electronic Medical Record

(2010) Marylyn D. Ritchie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations

(2010) J. C. Denny et al.   BIOINFORMATICS

Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine

(2010) Dora Dias-Santagata et al.   EMBO Molecular Medicine

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

(2010) Sarah B Ng et al.   NATURE GENETICS