Author
Düsseldorf University HospitalORCID 0000-0003-2812-6492Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
7 papers
Recent·Most cited
Jeanne Mari V. Bang, Christina Ringmann Fagerberg, Thomas Koed Doktor…·Brage Storstein Andresen
The paper reports 37 new cases of RBM10 variants, identifies two phenotypic groups, and establishes a genotype-phenotype correlation based on functional studies.
Siegfried Schloissnig, Samarendra Pani, Jana Ebler…·Jan O. Korbel
The paper uses long-read sequencing to characterize structural variants in 1,019 samples from the 1000 Genomes Project, identifying 167,291 sequence-resolved SVs and highlighting their genomic and functional implications.
Stéphanie Efthymiou, Cailyn P Leo, Chenghong Deng…·Dragony Fu
This study identifies biallelic TRMT1 variants causing a syndromic neurodevelopmental disorder through tRNA modification defects in humans and zebrafish.
Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou
The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.
Erik Rosenhahn, Thomas James O’Brien, Maha Saad Zaki…·Konrad Platzer
Eva Lausberg, Sebastian Gießelmann, Joseph P. Dewulf…·Florian Kraft
The paper identifies mutations in the C2orf69 gene as the cause of a human multisystem disorder characterized by autoinflammation, leukoencephalopathy, and hepatopathy.
Benjamin Büttner, Sonja Martin, Anja Finck…·Rami Abou Jamra
The paper evaluates negative exome sequencing in neurodevelopmental disorders by systematically scoring candidate genes to improve prioritization and validation.