Empowerment of patients: lessons from the rare diseases community

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

Maria Eriksson, W. Ted Brown, Leslie B. Gordon et al. · Nature · 2003 · 2.2K citations · Full text

Medicine, Genetics, Molecular Genetics +5

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 599 citations

Life Sciences, Genetics, Molecular Genetics +11

Germline Mutations in Genes Within the MAPK Pathway Cause Cardio-facio-cutaneous Syndrome

Pablo Rodriguez‐Viciana, Osamu Tetsu, William E. Tidyman et al. · Science · 2006 · 570 citations

Life Sciences, Genetics, Molecular Genetics +17

Virtually He@lthy: The Impact of Internet Use on Disease Experience and the Doctor-Patient Relationship

Alex Broom · Qualitative Health Research · 2005 · 454 citations

Social Sciences, Communication, Oncology +16

The ‘expert patient’: empowerment or medical dominance? The case of weight loss, pharmaceutical drugs and the Internet

Nick J. Fox, Katie Ward, Alan O’Rourke · Social Science & Medicine · 2004 · 434 citations

Pharmacy, Pharmacy Practice, Medical Ethics +15