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European Journal of Medical Genetics|October 3, 2020
Molecular characterization of temple syndrome families with 14q32 epimutationsJohanna Brück, Matthias Begemann, Daniela Dey, et al.
Molecular Syndromology|January 2, 2023
Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same FamilyChristian T Hübner, Asmaa K Amin, Daniela Dey, et al.
Bioinformatics (Oxford, England)|December 16, 2020
Helixer: cross-species gene annotation of large eukaryotic genomes using deep learningFelix Stiehler, Marvin Steinborn, Stephan Scholz, et al.
BMC Bioinformatics|December 17, 2024
CNVizard-a lightweight streamlit application for an interactive analysis of copy number variantsJeremias Krause, Carlos Classen, Daniela Dey, et al.
Clinical Genetics|July 29, 2020
Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic faciesRobert Meyer, Matthias Begemann, Stephanie Demuth, et al.
Clinical Epigenetics|March 1, 2023
Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approachLarissa Bilo, Eguzkine Ochoa, Sunwoo Lee, et al.
Orphanet Journal of Rare Diseases|January 23, 2021
One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndromeRobert Meyer, Matthias Begemann, Christian Thomas Hübner, et al.
Brain : a Journal of Neurology|September 28, 2023
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathiesAnnette Lischka, Katja Eggermann, Christopher J Record, et al.
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