@article{UBHD-69163972, author={Ahmad, Natalie and Fazeli, Walid and Schließke, Sophia and Lesca, Gaetan and Gokce-Samar, Zeynep and Mekbib, Kedous Y. and Jin, Sheng Chih and Burton, Jennifer and Hoganson, George and Petersen, Andrea and Gracie, Sara and Granger, Leslie and Bartels, Enrika and Oppermann, Henry and Kundishora, Adam and Till, Marianne and Milleret-Pignot, Clara and Dangerfield, Shane and Viskochil, David and Anderson, Katherine J. and Palculict, Timothy Blake and Schnur, Rhonda E. and Wentzensen, Ingrid M. and Tiller, George E. and Kahle, Kristopher T. and Kunz, Wolfram S. and Burkart, Sebastian and Simons, Matias and Sticht, Heinrich and Abou Jamra, Rami and Neuser, Sonja}, title={De novo variants in RAB11B cause various degrees of lobal developmental delay and intellectual disability in children}, year={2023}, pages={164-171}, language={eng}, issn={1873-5150}, volume={148}, note={Gesehen am 22.01.2024}, journal={Pediatric neurology}, doi={10.1016/j.pediatrneurol.2023.08.023}, } @article{UBHD-69283249, author={Burkart, Sebastian and Hempel, Maja}, title={Genetisch-determinierte Prognose oder prognostisch-relevante Genetik?}, year={2024}, pages={133-143}, language={ger}, issn={2509-2464}, volume={9}, journal={Heidelberger Jahrb{\"u}cher online}, doi={10.17885/heiup.hdjbo.2024.1.25080}, url={https://doi.org/10.17885/heiup.hdjbo.2024.1.25080}, library={UB}, } @article{UBHD-69068394, author={Burkart, Sebastian and Weusthof, Christopher and Khorani, Karam and Steen, Sonja and St{\"o}gbauer, Fabian and Unger, Kristian and Hess, Julia and Zitzelsberger, Horst and Belka, Claus and Kurth, Ina and Heß, Jochen}, title={A novel subgroup of UCHL1-related cancers is associated with genomic instability and sensitivity to DNA-damaging treatment}, year={2023}, pages={1-16}, language={eng}, issn={2072-6694}, volume={15}, note={Gesehen am 24.04.2023}, journal={Cancers}, doi={10.3390/cancers15061655}, } @article{UBHD-69358160, author={Burkart, Sebastian and Spanjaard, Melanie and Kaufmann, Lilian and Hinderhofer, Katrin and Schaaf, Christian P. and Ries, Markus and Hempel, Maja}, title={Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum}, subtitle={a case report}, year={2025}, pages={1-5}, language={eng}, issn={1552-4833}, note={Gesehen am 23.06.2025}, journal={American journal of medical genetics}, doi={10.1002/ajmg.a.64144}, } @incollection{UBHD-69295552, author={Burkart, Sebastian and Ries, Markus and Romero, Verena and Burau, Karin and Schaaf, Christian P. and Hempel, Maja}, title={Unraveling the genomic architecture of supernumerary (iso-) dicentric chromosomes in Dup15q syndrome}, subtitle={Insight from a systematic literature-based study}, year={2025}, pages={1-19}, language={eng}, issn={2693-5015}, note={Gesehen am 29.01.2025}, booktitle={Research Square}, doi={10.21203/rs.3.rs-5833554/v1}, } @article{UBHD-69281717, author={Khorani, Karam and Burkart, Sebastian and Weusthof, Christopher and Han, Rui and Liang, Siyuan and St{\"o}gbauer, Fabian and Heß, Jochen}, title={Context-dependent regulation of peripheral nerve abundance by the PI3K pathway in the tumor microenvironment of head and neck squamous cell carcinoma}, year={2024}, pages={1-16}, language={eng}, issn={2073-4409}, volume={13}, note={Gesehen am 09.12.2024}, journal={Cells}, doi={10.3390/cells13121033}, } @article{UBHD-69326634, author={K{\"o}rfer, Daniel and Grond-Ginsbach, Caspar and Peters, Andreas and Burkart, Sebastian and Hempel, Maja and Schaaf, Christian P. and B{\"o}ckler, Dittmar and Erhart, Philipp}, title={Genetic variants in patients with multiple arterial aneurysms}, year={2024}, pages={1-8}, language={eng}, issn={1435-2451}, volume={409}, number={Artikel-ID 304}, note={Gesehen am 02.04.2025}, journal={Langenbeck's archives of surgery}, doi={10.1007/s00423-024-03488-5}, } @article{UBHD-69100048, author={Weusthof, Christopher and Burkart, Sebastian and Semmelmayer, Karl and St{\"o}gbauer, Fabian and Feng, Bohai and Khorani, Karam and Bode, Sebastian Felix Nepomuk and Plinkert, Peter K. and Plath, Karim and Heß, Jochen}, title={Establishment of a machine learning model for the risk assessment of perineural invasion in head and neck squamous cell carcinoma}, year={2023}, pages={1-19}, language={eng}, issn={1422-0067 and 1661-6596}, volume={24}, note={Gesehen am 21.11.2023}, journal={International journal of molecular sciences}, doi={10.3390/ijms24108938}, }