Dieter Kotzot

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

Gillian Rice, Teresa Patrick, Rekha Parmar et al. · The American Journal of Human Genetics · 2007 · 442 citations · Full text

Cardiomyopathy, Heart Failure, Cardiorenal Syndromes +8

Uniparental disomy 7 in Silver—Russell syndrome and primordial growth retardation

Dieter Kotzot, Silke Schmitt, Fabiana Bernasconi et al. · Human Molecular Genetics · 1995 · 302 citations · Full text

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

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

Doris Wöhrle, Dieter Kotzot, Mark C. Hirst et al. · PubMed · 1992 · 173 citations

Partial 7q11.23 deletions further implicate <i>GTF2I</i> and <i>GTF2IRD1</i> as the main genes responsible for the Williams–Beuren syndrome neurocognitive profile

Anna Antonell, Miguel Del Campo, Luis F. Magano et al. · Journal of Medical Genetics · 2009 · 156 citations