Josefine Fuchs

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype–phenotype correlations in FBN1 exons 24–40

Frank Tiecke, Stefanie Katzke, Patrick Booms et al. · European Journal of Human Genetics · 2001 · 157 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +10

A 4-Year Longitudinal Study of 555 Patients Treated with Ranibizumab for Neovascular Age-related Macular Degeneration

Annette Rasmussen, Sara Brandi Bloch, Josefine Fuchs et al. · Ophthalmology · 2013 · 117 citations · Full text

Ocular Disease, Ophthalmology, Age-related Diseases +5

Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease

Andreas Gal, Isabella Rau, L. El Matri et al. · The American Journal of Human Genetics · 2011 · 92 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +5

Congenital ectopia lentis, A Danish national survey

Josefine Fuchs, Thomas Rosenberg · Acta Ophthalmologica Scandinavica · 1998 · 84 citations · Full text

TGGE screening of the entire<i>FBN1</i>coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

Stefanie Katzke, Patrick Booms, Frank Tiecke et al. · Human Mutation · 2002 · 74 citations

Genetics, Genetic Epidemiology, Pathology +18