Anne Katrin Lampe

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

Alejandro Sifrim, Marc‐Phillip Hitz, Anna Wilsdon et al. · Nature Genetics · 2016 · 467 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome

Anna Richards, Elizabeth J. Kemp, M. Kathryn Liszewski et al. · Proceedings of the National Academy of Sciences · 2003 · 407 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Karen M. Lower, Gillian Turner, Bronwyn Kerr et al. · Nature Genetics · 2002 · 216 citations

Life Sciences, Genetics, Molecular Genetics +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

Dentistry, Cell Biology, Craniofacial Biology +12

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 · 171 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16