Gundula Leschik

Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Peter Nürnberg, Hölger Thiele, David Chandler et al. · Nature Genetics · 2001 · 240 citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

Loss of chondroitin 6-<i>O</i>-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

Hölger Thiele, Masahiro Sakano, Hiroshi Kitagawa et al. · Proceedings of the National Academy of Sciences · 2004 · 187 citations · Full text

Bioorganic Chemistry, Delta Hexa-galnac, Glycobiology +21

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression

Michael Niedermaier, Georg C. Schwabe, Stephan Fees et al. · Journal of Clinical Investigation · 2005 · 75 citations · Full text

Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy

Thomas Sander, Mohammad R. Toliat, Armin Heils et al. · Epilepsy Research · 2002 · 69 citations

Neurobiology Of Disease, Genetic Disorder, Genetics +6

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

Claus‐Eric Ott, Gundula Leschik, Fabienne Trotier et al. · Human Mutation · 2010 · 69 citations · Full text

Cleidocranial Dysplasia, Ccd Patients, Mendelian Disorder +13