Anne Katrin Lampe

Mutations in PHF6 are associated with Börjeson–Forssman –Lehmann syndrome

Karen M. Lower, Gillian Turner, Bronwyn Kerr et al. · Nature Genetics · 2002 · 214 citations

Börjeson–forssman –Lehmann Syndrome, Mendelian Disorder, Genetic Disorder +6

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Stephen R.F. Twigg, Elena Vorgia, Simon J. McGowan et al. · Nature Genetics · 2013 · 174 citations

Sclerostin, Developmental Biology, Signal Transduction +11

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Morad Ansari, Gemma Poke, Quentin R. V. Ferry et al. · Journal of Medical Genetics · 2014 · 165 citations · Full text

Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy

Anne Katrin Lampe · Journal of Medical Genetics · 2005 · 137 citations · Full text

ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder

Sara Cuvertino, Helen M. Stuart, Kate Chandler et al. · The American Journal of Human Genetics · 2017 · 135 citations · Full text