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Journal of Medical Genetics|August 26, 2019
Postzygotic mosaicism in cerebral cavernous malformationMatthias Rath, Axel Pagenstecher, Alexander Hoischen, 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.
Human Molecular Genetics|December 18, 2008
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cellsAxel Pagenstecher, Sonja Stahl, Ulrich Sure, 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.
Hamostaseologie|September 28, 2018
Diagnostic Single Gene Analyses Beyond SangerJuliane Najm, Matthias Rath, Winnie Schröder, et al.
Molecular Syndromology|March 30, 2018
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic CounsellingStefanie Spiegler, Matthias Rath, Christin Paperlein, et al.
Healthcare (Basel, Switzerland)|October 27, 2022
Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western PomeraniaUte Felbor, Robin Bülow, Rita K Schmutzler, et al.
Clinical Case Reports|November 5, 2024
Novel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature reviewRobin A Pilz, Dariush Skowronek, Tamara Ehresmann, et al.
Methods in Molecular Biology (Clifton, N.J.)|June 12, 2020
CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM DiseaseKonrad Schwefel, Stefanie Spiegler, Christiane D Much, et al.
Molecular Genetics & Genomic Medicine|May 25, 2019
Precise CCM1 gene correction and inactivation in patient-derived endothelial cells: Modeling Knudson's two-hit hypothesis in vitroStefanie Spiegler, Matthias Rath, Christiane D Much, et al.
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