Author
University of Tübingen
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
4 papers
Recent·Most cited
Mark Stevenson, Asha L. Bayliss, Victoria J. Stokes…·Rajesh V. Thakker
The paper identifies AP2S1 variants linked to neurodevelopmental disorders by showing they impair clathrin-mediated endocytosis and disrupt protein interactions.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim…·David H. Viskochil
Mostly de novo variants in an 18 bp constrained region of U4 snRNA gene RNU4-2 cause a syndromic neurodevelopmental disorder, estimated to explain 0.41% of cases.
Lottie D. Morison, Elisabeth Meffert, Miriam Stampfer…·Angela Tamsin Morgan
This study characterizes 29 individuals with FOXP2 variants, showing high prevalence of speech disorders and language impairments, with relatively specific phenotypes compared to other monogenic conditions.
Jet van der Spek, Joery den Hoed, Lot Snijders Blok…·Tjitske Kleefstra
The paper shows inherited CHD3 variants cause Snijders Blok-Campeau syndrome with variable expressivity, overlapping with de novo variants' phenotypes, and suggests reduced penetrance is not due to expression compensation.