Christian T. Thiel

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Anita Rauch, Juliane Hoyer, Sabine Guth et al. · American Journal of Medical Genetics Part A · 2006 · 445 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the Pericentrin ( <i>PCNT</i> ) Gene Cause Primordial Dwarfism

Anita Rauch, Christian T. Thiel, Detlev Schindler et al. · Science · 2008 · 397 citations

Life Sciences, Genetics, Molecular Genetics +17

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

Martin Zenker, Julia Mayerle, Markus M. Lerch et al. · Nature Genetics · 2005 · 272 citations

Life Sciences, Genetics, Molecular Biology +14

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans et al. · Nature Cell Biology · 2015 · 250 citations · Full text

Life Sciences, Genetics, Molecular Biology +7