Author
University of TübingenORCID 0000-0001-7576-3326Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
6 papers
Recent·Most cited
Wallid Deb, Thomas Besnard, Florence Desprez…·Sébastien Küry
The paper identifies de novo variants in PCBP1 causing neurodevelopmental disorders, showing impaired dendritic arborization and increased exon skipping in T cells.
Lukas Laufer, Gilles Gasparoni, Thomas Hentrich…·Julia Schulze-Hentrich
MethylBench benchmarks DNA methylation profiling methods across sequencing platforms, finding consistent DMC hotspots and highlighting platform-specific strengths and limitations.
J. Robert Harkness, John Henry McDermott, Shea Marsden…·William G. Newman
The paper identifies biallelic RCC1 variants causing an acute axonal neuropathy triggered by infection, with mechanistic overlap with ALS and GBS.
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.
Rebecca Buchert, Elisabeth Schenk, Thomas Hentrich…·Julia Maria Schulze-Hentrich
This study analyzes genome and transcriptome data from discordant monozygotic twins with Mayer-Rokitansky-Kuster-Hauser syndrome to identify genetic and transcriptional differences.
Hong Joo Kim, Payam Mohassel, Sandra C. Donkervoort…·J. Paul Taylor
The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.