@article{UBHD-69113609,
  author={Brennenstuhl, Heiko and Nashawi, Mohammed and Schr{\"o}ter, Julian and Baronio, Federico and Beedgen, Lars and Gleich, Florian and Jeltsch, Kathrin and Landenberg, Christina von and Martini, Silvia and Simon, Anna and Thiel, Christian and Tsiakas, Konstantinos and Opladen, Thomas and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haas, Dorothea},
  title={Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria},
  year={2021},
  pages={1272-1287},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={5},
  note={Gesehen am 17.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12412},
  url={https://doi.org/10.1002/jimd.12412},
  library={UB},
}
@article{UBHD-68687473,
  author={Brennenstuhl, Heiko and Didiášová, Miroslava and Assmann, Birgit and Bertoldi, Mariarita and Molla, Gianluca and Jung-Klawitter, Sabine and Kuseyri H{\"u}bschmann, Oya and Schr{\"o}ter, Julian and Opladen, Thomas and Tikkanen, Ritva},
  title={Succinic semialdehyde dehydrogenase deficiency},
  subtitle={in vitro and in silico characterization of a novel pathogenic missense variant and analysis of the mutational spectrum of ALDH5A1},
  year={2020},
  pages={1-15},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={21},
  note={Gesehen am 02.02.2021},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms21228578},
}
@article{UBHD-68670403,
  author={Darche, Fabrice Fernand and Rivinius, Rasmus and K{\"o}llensperger, Eva and Leimer, Uwe and Germann, G{\"u}nter and Seckinger, Anja and Hose, Dirk and Schr{\"o}ter, Julian and Bruehl, Claus and Draguhn, Andreas and Gabriel, Richard and Schmidt, Manfred and Koenen, Michael and Thomas, Dierk and Katus, Hugo and Schweizer, Patrick Alexander},
  title={Pacemaker cell characteristics of differentiated and HCN4-transduced human mesenchymal stem cells},
  year={2019},
  pages={1-16},
  language={eng},
  issn={1879-0631},
  volume={232},
  number={Artikel-ID 116620},
  note={Gesehen am 08.12.2020},
  journal={Life sciences},
  doi={10.1016/j.lfs.2019.116620},
}
@article{UBHD-69010059,
  author={Driedger, Jan Henje and Saffari, Afshin and Bast, Thomas and Brockmann, Knut and Ehrhardt, Laura and Fazeli, Walid and Janzarik, Wibke G. and Klabunde-Cherwon, Annick and Kluger, Gerhard and Muhle, Hiltrud and Pendziwiat, Manuela and Møller, Rikke S. and Platzer, Konrad and Santos, Joana Larupa and Schr{\"o}ter, Julian and Hoffmann, Georg F. and K{\"o}lker, Stefan and Syrbe, Steffen},
  title={Efficacy, tolerability, and retention of antiseizure medications in PRRT2-associated infantile epilepsy},
  year={2022},
  pages={1-11},
  language={eng},
  issn={2376-7839},
  volume={8},
  number={5 vom: Okt.},
  note={First published September 28, 2022 ; Gesehen am 25.01.2023},
  journal={Neurology},
  doi={10.1212/NXG.0000000000200020},
  url={https://doi.org/10.1212/NXG.0000000000200020},
  library={UB},
}
@article{UBHD-69318531,
  author={Driedger, Jan Henje and Schr{\"o}ter, Julian and Hertzberg, Christoph and Weschke, Bernhard and Kaindl, Angela M. and L{\"u}cke, Thomas and Thiels, Charlotte and Klotz, Kerstin A. and Fazeli, Walid and Rostásy, Kevin and Wiethoff-Ubrig, Lucia and Kaiser, Olaf and Trollmann, Regina and Mammadova, Dilbar and Schubert-Bast, Susanne and Bach, Alexia and Eckenweiler, Matthias and Sch{\"o}nberger, Jan and Martakis, Kyriakos and Hahn, Andreas and Brockmann, Knut and Dreha-Kulaczewski, Steffi and Weiss, Deike and Denecke, Jonas and Muhle, Hiltrud and Arélin, Maria and Merkenschlager, Andreas and Borggr{\"a}fe, Ingo and Roser, Timo and Ebrahimi-Fakhari, Daniel and Fiedler, Barbara and Schlump, Jan-Ulrich and K{\"o}ster, Ilka and Korenke, Christoph and Alber, Michael and Ruf, Susanne and Feucht, Martha and Scholl, Theresa and Syrbe, Steffen and Saffari, Afshin},
  title={Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial},
  subtitle={study protocol},
  year={2025},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={20},
  note={Gesehen am 14.03.2025},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-024-03495-1},
}
@article{UBHD-68748690,
  author={Driedger, Jan Henje and Schr{\"o}ter, Julian and J{\"u}ngling, Jerome and Biskup, Saskia and Klotz, Kerstin A. and Bast, Thomas and Dietel, Tobias and Korenke, Christoph and Christoph, Sophie and Brennenstuhl, Heiko and Rubboli, Guido and Møller, Rikke S. and Lesca, Gaetan and Chaix, Yves and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lemke, Johannes and Syrbe, Steffen},
  title={Refining genotypes and phenotypes in KCNA2-related neurological disorders},
  year={2021},
  pages={1-16},
  language={eng},
  issn={1422-0067 and 1661-6596},
  volume={22},
  note={Gesehen am 15.06.2021},
  journal={International journal of molecular sciences},
  doi={10.3390/ijms22062824},
}
@article{UBHD-67685453,
  author={Duhme, Nana and Schweizer, Patrick Alexander and Thomas, Dierk and Becker, R{\"u}diger and Schr{\"o}ter, Julian and Draguhn, Andreas and Bruehl, Claus and Katus, Hugo},
  title={Altered HCN4 channel C-linker interaction is associated with familial tachycardia-bradycardia syndrome and atrial fibrillation},
  year={2013},
  pages={2768-2775},
  language={ger},
  issn={1522-9645},
  volume={34},
  number={35},
  journal={European heart journal},
  doi={10.1093/eurheartj/ehs391},
}
@article{UBHD-68976660,
  author={G{\"o}tz, Maren and Schr{\"o}ter, Julian and Dattner, Tal and Brennenstuhl, Heiko and Lenz, Dominic and Opladen, Thomas and H{\"o}rster, Friederike and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan and Staufner, Christian},
  title={Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency},
  year={2022},
  pages={18-25},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={1},
  note={Online verf{\"u}gbar 11 July 2022, Version des Artikels 19 July 2022 ; Gesehen am 20.10.2022},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.07.007},
}
@article{UBHD-68870948,
  author={Saffari, Afshin and Schr{\"o}ter, Julian and Garbade, Sven and Alecu, Julian E. and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen},
  title={Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy},
  subtitle={a systematic cross-sectional analysis of 160 published cases},
  year={2022},
  pages={1-13},
  language={eng},
  issn={1554-8635},
  volume={18},
  number={7},
  note={Online ver{\"o}ffentlicht: 24. November 2021 ; Gesehen am 11.10.2022},
  journal={Autophagy},
  doi={10.1080/15548627.2021.1990671},
}
@article{UBHD-69064164,
  author={Schr{\"o}ter, Julian and Dattner, Tal and H{\"u}llein, Jennifer and Jayme, Alejandra and Heuveline, Vincent and Hoffmann, Georg F. and K{\"o}lker, Stefan and Lenz, Dominic and Opladen, Thomas and Popp, Bernt and Schaaf, Christian P. and Staufner, Christian and Syrbe, Steffen and Uhrig, Sebastian and H{\"u}bschmann, Daniel and Brennenstuhl, Heiko},
  title={aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment},
  year={2023},
  pages={1077-1083},
  language={eng},
  issn={2001-0370},
  volume={21},
  note={Gesehen am 11.04.2023},
  journal={Computational and structural biotechnology journal},
  doi={10.1016/j.csbj.2023.01.027},
}
@article{UBHD-69087216,
  author={Schr{\"o}ter, Julian and Popp, Bernt and Brennenstuhl, Heiko and Driedger, Jan Henje and Jestaedt, Leonie and Arélin, Maria and Gr{\"a}fe, Daniel and Neuser, Sonja Anna and Parker, Michael and Lemke, Johannes and Hoffmann, Georg F. and K{\"o}lker, Stefan and Harting, Inga and Syrbe, Steffen},
  title={Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies},
  year={2022},
  pages={298-306},
  language={eng},
  issn={1476-5438},
  volume={30},
  number={3},
  note={Gesehen am 19.06.2023},
  journal={European journal of human genetics},
  doi={10.1038/s41431-021-01027-0},
  url={https://doi.org/10.1038/s41431-021-01027-0},
  library={UB},
}
@article{UBHD-68740526,
  author={Schr{\"o}ter, Julian and Driedger, Jan Henje and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen},
  title={Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies},
  year={2021},
  pages={516-523},
  language={eng},
  issn={1530-0366},
  volume={23},
  number={3},
  note={Published: 21 October 2020 ; Gesehen am 25.05.2021},
  journal={Genetics in medicine},
  doi={10.1038/s41436-020-01001-z},
  url={https://doi.org/10.1038/s41436-020-01001-z},
  library={UB},
}
@article{UBHD-69101725,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64(2022) vom: Okt.},
  number={Artikel-ID 102879},
  note={Gesehen am 27.07.2023},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
  url={https://doi.org/10.1016/j.scr.2022.102879},
  library={UB},
}
@article{UBHD-68976684,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}ring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={64},
  number={Artikel-ID 102879},
  note={Online verf{\"u}gbar 29 July 2022, Version des Artikels 2 August 2022 ; Gesehen am 20.10.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102879},
}
@article{UBHD-68938289,
  author={Schr{\"o}ter, Julian and Syring, Hanna and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Opladen, Thomas and Hoffmann, Georg F. and Syrbe, Steffen and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy},
  year={2022},
  pages={1-4},
  language={eng},
  issn={1876-7753},
  volume={62},
  number={Artikel-ID 102818},
  note={Gesehen am 06.07.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102818},
  url={https://doi.org/10.1016/j.scr.2022.102818},
  library={UB},
}
@book{UBHD-68345069,
  author={Schr{\"o}ter, Julian},
  organization={Universit{\"a}t Heidelberg},
  title={Klinische und elektrophysiologische Charakterisierung zweier humanpathogener Mutationen des HCN4-Kanals},
  address={Heidelberg},
  year={2018},
  pages={122 Bl{\"a}tter},
  language={ger},
  school={Dissertation,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2018},
  library={UB [Signatur: 2019 U 7]},
}
@article{UBHD-68621359,
  author={Schweizer, Patrick Alexander and Schr{\"o}ter, Julian and Greiner, Sebastian and Haas, Jan and Yampolsky, Pessah and Mereles, Derliz and Buß, Sebastian Johannes and Seyler, Claudia and Bruehl, Claus and Draguhn, Andreas and Koenen, Michael and Meder, Benjamin and Katus, Hugo and Thomas, Dierk},
  title={The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel},
  year={2014},
  pages={757-767},
  language={eng},
  issn={1558-3597},
  volume={64},
  number={8},
  note={Gesehen am 28.07.2020},
  journal={Journal of the American College of Cardiology},
  doi={10.1016/j.jacc.2014.06.1155},
}
@article{UBHD-67682763,
  author={Schweizer, Patrick Alexander and Meder, Benjamin and Katus, Hugo and Thomas, Dierk and Schr{\"o}ter, Julian and Greiner, Sebastian and Yampolsky, Pessah and Mereles, Derliz and Buß, Sebastian Johannes and Seyler, Claudia and Bruehl, Claus and Draguhn, Andreas},
  title={The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 Channel},
  year={2014},
  pages={757-767},
  language={eng},
  issn={0735-1097},
  volume={64},
  number={8},
  journal={Journal of the American College of Cardiology},
}
@article{UBHD-69112833,
  author={Semino, Francesca and Schr{\"o}ter, Julian and Willemsen, Marjolein H. and Bast, Thomas and Biskup, Saskia and Beck-Woedl, Stefanie and Brennenstuhl, Heiko and Schaaf, Christian P. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haack, Tobias and Syrbe, Steffen},
  title={Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder},
  year={2021},
  pages={1094-1100},
  language={eng},
  issn={1098-1004},
  volume={42},
  number={9},
  note={Gesehen am 15.08.2023},
  journal={Human mutation},
  doi={10.1002/humu.24245},
  url={https://doi.org/10.1002/humu.24245},
  library={UB},
}
@article{UBHD-69098314,
  author={Thalwitzer, Kim M. and Driedger, Jan Henje and Xian, Julie and Saffari, Afshin and Zacher, Pia and B{\"o}lsterli, Bigna K. and McKeown Ruggiero, Sarah and Sullivan, Katie Rose and Datta, Alexandre N. and Kellinghaus, Christoph and Althaus, J{\"u}rgen and Wiemer-Kruel, Adelheid and van Baalen, Andreas and Pampel, Armin and Alber, Michael and Braakman, Hilde M. H. and Debus, Otfried Martin and Denecke, Jonas and Hobbiebrunken, Elke and Breitweg, Ina and Diehl, Danielle and Eitel, Hans Christian and Gburek-Augustat, Janina and Preisel, Martin and Schlump, Jan-Ulrich and Laufs, Mirjam and Mammadova, Dilbar and Wurst, Carsten and Prager, Christine and L{\"o}hr-Nilles, Christa and Martin, Peter and Garbade, Sven and Platzer, Konrad and Benkel-Herrenbrueck, Ira and Egler, Kerstin and Fazeli, Walid and Lemke, Johannes R. and Runkel, Eva and Klein, Barbara and Linden, Tobias and Schr{\"o}ter, Julian and Steffeck, Heike and Thies, Bastian and Deimling, Florian von and Illsinger, Sabine and Borggr{\"a}fe, Ingo and Classen, Georg and Wieczorek, Dagmar and Ramantani, Georgia and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus and Helbig, Ingo and Syrbe, Steffen},
  title={Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1},
  year={2023},
  pages={e879-e891},
  language={eng},
  issn={1526-632X},
  volume={101},
  number={9},
  note={Gesehen am 17.07.2023},
  journal={Neurology},
  doi={10.1212/WNL.0000000000207550},
}
@article{UBHD-69107236,
  author={Vogel, Georg and Mozer-Glassberg, Yael and Landau, Yuval E. and Schlieben, Lea D. and Prokisch, Holger and Feichtinger, René G. and Mayr, Johannes A. and Brennenstuhl, Heiko and Schr{\"o}ter, Julian and Pechlaner, Agnes and Alkuraya, Fowzan S. and Baker, Joshua J. and Barcia, Giulia and Baric, Ivo and Braverman, Nancy and Burnyte, Birute and Christodoulou, John and Ciara, Elzbieta and Coman, David and Das, Anibh M. and Darin, Niklas and Della Marina, Adela and Distelmaier, Felix and Eklund, Erik A. and Ersoy, Melike and Fang, Weiyan and Gaignard, Pauline and Ganetzky, Rebecca D. and Gonzales, Emmanuel and Howard, Caoimhe and Hughes, Joanne and Konstantopoulou, Vassiliki and Kose, Melis and Kerr, Marina and Khan, Aneal and Lenz, Dominic and McFarland, Robert and Margolis, Merav Gil and Morrison, Kevin and M{\"u}ller, Thomas and Murayama, Kei and Nicastro, Emanuele and Pennisi, Alessandra and Peters, Heidi and Piekutowska-Abramczuk, Dorota and R{\"o}tig, Agnès and Santer, René and Scaglia, Fernando and Schiff, Manuel and Shagrani, Mohmmad and Sharrard, Mark and Soler-Alfonso, Claudia and Staufner, Christian and Storey, Imogen and Stormon, Michael and Taylor, Robert W. and Thorburn, David R. and Teles, Elisa Leao and Wang, Jian-She and Weghuber, Daniel and Wortmann, Saskia},
  title={Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants},
  year={2023},
  pages={1-16},
  language={eng},
  issn={1530-0366},
  volume={25},
  note={Online verf{\"u}gbar: 29. Oktober 2022, Artikelversion: 2. Juni 2023 ; Gesehen am 08.08.2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2022.09.015},
}