Stephanie S. Weinreich

Population-based incidence and prevalence of facioscapulohumeral dystrophy

Johanna C.W. Deenen, Hisse Arnts, Silvère M. van der Maarel et al. · Neurology · 2014 · 387 citations · Full text

Veterinary Medicine, Health Sciences, Population Health Sciences +14

Population based epidemiology of amyotrophic lateral sclerosis using capture-recapture methodology

Mark Huisman, Sonja W. de Jong, Perry T.C. van Doormaal et al. · Journal of Neurology Neurosurgery & Psychiatry · 2011 · 280 citations · Full text

Public Health, Neurology, Clinical Epidemiology +13

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1 – From blood spot to screening result

J.G. Loeber, Peter Burgard, Martina C. Cornel et al. · Journal of Inherited Metabolic Disease · 2012 · 200 citations

Medicine, Child Health, Pediatrics +12

[Orphanet: a European database for rare diseases].

Stephanie S. Weinreich, R. Mangon, Jonne J. Sikkens et al. · PubMed · 2008 · 150 citations

Computing, Biomedical Informatics, Health Informatics +14

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow‐up and quality assurance

Peter Burgard, Kathrin Rupp, Martin Lindner et al. · Journal of Inherited Metabolic Disease · 2012 · 110 citations

Medicine, Child Health, Pediatrics +14