Sigrun Fuchs

Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes

Seval Türkmen, Gabriele Gillessen‐Kaesbach, Peter Meinecke et al. · European Journal of Human Genetics · 2003 · 129 citations

Life Sciences, Genetics, Molecular Genetics +9

<i>SALL4</i>mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders

Jürgen Kohlhase, David Chitayat, Dieter Kotzot et al. · Human Mutation · 2005 · 123 citations

Life Sciences, Genetics, Molecular Genetics +17

Spectrum of the acrocallosal syndrome

Rainer Koenig, Alexia Bach, Ulrike Woelki et al. · American Journal of Medical Genetics · 2002 · 36 citations

Medicine, Craniofacial Biology, Craniofacial Genetics +16

OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs

Karsten Haug, Saima Khan, Sigrun Fuchs et al. · American Journal of Medical Genetics · 2000 · 32 citations

Medicine, Neurology, Pediatrics +17

Osteopathia striata with cranial sclerosis: Variable expressivity in a four generation pedigree

Rainer König, Christof Dukiet, Andrea Dörries et al. · American Journal of Medical Genetics · 1996 · 32 citations

Medicine, Genetics, Neurology +17