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American Journal of Medical Genetics. Part A|December 18, 2018
Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencingMatthias Rath, Stefanie Spiegler, Tim M Strom, et al.Neurogenetics|December 4, 2017
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencingStefanie Spiegler, Matthias Rath, Sabine Hoffjan, et al.Neurosurgical Review|June 24, 2021
Long-term outcome and quality of life after CNS cavernoma resection: eloquent vs. non-eloquent areasLoay Shoubash, Jörg Baldauf, Marc Matthes, et al.Neurogenetics|August 28, 2025
Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 geneRobin A Pilz, Matthias Begemann, Surema Pfister, et al.European Journal of Medical Genetics|June 25, 2017
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformationsMatthias Rath, Sönke E Jenssen, Konrad Schwefel, et al.Frontiers in Molecular Biosciences|September 12, 2022
Using CRISPR/Cas9 genome editing in human iPSCs for deciphering the pathogenicity of a novel <i>CCM1</i> transcription start site deletionRobin A Pilz, Dariush Skowronek, Motaz Hamed, et al.Journal of Cellular and Molecular Medicine|December 15, 2018
Biallelic CCM3 mutations cause a clonogenic survival advantage and endothelial cell stiffeningKonrad Schwefel, Stefanie Spiegler, Sabine Ameling, et al.International Journal of Molecular Sciences|December 23, 2022
Cas9-Mediated Nanopore Sequencing Enables Precise Characterization of Structural Variants in <i>CCM</i> GenesDariush Skowronek, Robin A Pilz, Loisa Bonde, et al.Frontiers in Molecular Biosciences|July 26, 2021
Inactivation of Cerebral Cavernous Malformation Genes Results in Accumulation of von Willebrand Factor and Redistribution of Weibel-Palade Bodies in Endothelial CellsChristiane D Much, Barbara S Sendtner, Konrad Schwefel, et al.Scientific Reports|April 15, 2020
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformationsRobin A Pilz, Konrad Schwefel, Anja Weise, et al.Pageof 16