Stephen C. Groft

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

Kym M. Boycott, Ana Rath, Jessica X. Chong et al. · The American Journal of Human Genetics · 2017 · 453 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Kathryn Camp, Melissa A. Parisi, Phyllis B. Acosta et al. · Molecular Genetics and Metabolism · 2014 · 269 citations

Medicine, Biochemistry, Molecular Medicine +8

Inherited Arrhythmias

Stephan E. Lehnart, Michael J. Ackerman, D. Woodrow Benson et al. · Circulation · 2007 · 255 citations

Medicine, Cardiology, Molecular Biology +17

Empowerment of patients: lessons from the rare diseases community

Ségolène Aymé, Anna Kole, Stephen C. Groft · The Lancet · 2008 · 232 citations

Social Sciences, Health Policy, Health Equity +10

Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

Yaffa Rubinstein, Stephen C. Groft, Ronald Bartek et al. · Contemporary Clinical Trials · 2010 · 116 citations

Medicine, Biomedical Informatics, Health Informatics +15