Important Role of Translational Science in Rare Disease Innovation, Discovery, and Drug Development

GRIN2Amutation and early-onset epileptic encephalopathy: personalized therapy with memantine

(2014) Tyler Mark Pierson et al.   Annals of Clinical and Translational Neurology

ACR/EULAR-endorsed study to develop Diagnostic and Classification Criteria for Vasculitis (DCVAS)

(2013) Anthea Craven et al.   Clinical and Experimental Nephrology

Designing Transformative Clinical Trials in the Cancer Genome Era

(2013) Stefan Sleijfer et al.   JOURNAL OF CLINICAL ONCOLOGY

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Crizotinib versus Chemotherapy in Advanced ALK-Positive Lung Cancer

(2013) Alice T. Shaw et al.   NEW ENGLAND JOURNAL OF MEDICINE

Elucidating Emergence and Transmission of Multidrug-Resistant Tuberculosis in Treatment Experienced Patients by Whole Genome Sequencing

(2013) Taane G. Clark et al.   PLoS One

The NIH Undiagnosed Diseases Program: bonding scientists and clinicians

(2012) W. A. Gahl et al.   Disease Models & Mechanisms

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

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

Combined BRAF and MEK Inhibition in Melanoma with BRAF V600 Mutations

(2012) Keith T. Flaherty et al.   NEW ENGLAND JOURNAL OF MEDICINE

Survival in BRAF V600–Mutant Advanced Melanoma Treated with Vemurafenib

(2012) Jeffrey A. Sosman et al.   NEW ENGLAND JOURNAL OF MEDICINE

The NIH Undiagnosed Diseases Program

(2011) William A. Gahl   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

A CFTR Potentiator in Patients with Cystic Fibrosis and theG551DMutation

(2011) Bonnie W. Ramsey et al.   NEW ENGLAND JOURNAL OF MEDICINE