@article{UBHD-69323669,
  author={Busley, Alexandra Viktoria and Gutiérrez-Gutiérrez, Óscar and Hammer, Elke and Koitka, Fabian and Mirzaiebadizi, Amin and Steinegger, Martin and Pape, Constantin and B{\"o}hmer, Linda and Schroeder, Henning and Kleinsorge, Mandy and Engler, Melanie and Cirstea, Ion Cristian and Gremer, Lothar and Willbold, Dieter and Altm{\"u}ller, Janine and Marbach, Felix and Hasenfuss, Gerd and Zimmermann, Wolfram-Hubertus and Ahmadian, Mohammad Reza and Wollnik, Bernd and Cyganek, Lukas},
  title={Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome},
  year={2024},
  pages={1-24},
  language={eng},
  issn={2211-1247},
  volume={43},
  note={Gesehen am 31.03.2025},
  journal={Cell reports},
  doi={10.1016/j.celrep.2024.114448},
}
@article{UBHD-69062458,
  author={Hebach, Nils R. and Caro, Pilar and Martin-Giacalone, Bailey A. and Lupo, Philip J. and Marbach, Felix and Choukair, Daniela and Schaaf, Christian P.},
  title={A retrospective analysis of growth hormone therapy in children with Schaaf-Yang syndrome},
  year={2021},
  pages={298-307},
  language={eng},
  issn={1399-0004},
  volume={100},
  number={3},
  note={Gesehen am 04.04.2023},
  journal={Clinical genetics},
  doi={10.1111/cge.14000},
  url={https://doi.org/10.1111/cge.14000},
  library={UB},
}
@article{UBHD-69063315,
  author={Kampmeier, Antje and Leitão, Elsa and Parenti, Ilaria and Beygo, Jasmin and Depienne, Christel and Bramswig, Nuria C and Hsieh, Tzung-Chien and Afenjar, Alexandra and Beck-W{\"o}dl, Stefanie and Grasshoff, Ute and Haack, Tobias B and Bijlsma, Emilia K and Ruivenkamp, Claudia and Lausberg, Eva and Elbracht, Miriam and Haanp{\"a}{\"a}, Maria K and Koillinen, Hannele and Heinrich, Uwe and Rost, Imma and Jamra, Rami Abou and Popp, Denny and Koch-Hogrebe, Margarete and Rostasy, Kevin and López-González, Vanesa and Sanchez-Soler, María José and Macedo, Catarina and Schmetz, Ariane and Steinborn, Carmen and Weidensee, Sabine and Lesmann, Hellen and Marbach, Felix and Caro, Pilar and Schaaf, Christian P. and Krawitz, Peter and Wieczorek, Dagmar and Kaiser, Frank J and Kuechler, Alma},
  title={PHIP-associated Chung-Jansen syndrome},
  subtitle={report of 23 new individuals},
  year={2023},
  pages={1-13},
  language={eng},
  issn={2296-634X},
  volume={10(2023) vom: Jan.},
  number={Artikel-ID 1020609},
  note={Gesehen am 06.04.2023},
  journal={Frontiers in cell and developmental biology},
  doi={10.3389/fcell.2022.1020609},
}
@article{UBHD-68666682,
  author={Marbach, Felix and Elgizouli, Magdeldin and Rech, Megan E. and Beygo, Jasmin and Erger, Florian and Velmans, Clara Helene and Stumpel, Constance T. R. M. and Stegmann, Alexander P. A. and Beck-W{\"o}dl, Stefanie and Gillessen-Kaesbach, Gabriele and Horsthemke, Bernhard and Schaaf, Christian P. and K{\"u}chler, Alma},
  title={The adult phenotype of Schaaf-Yang syndrome},
  year={2020},
  pages={11 S.},
  language={eng},
  issn={1750-1172},
  volume={15(2020) Artikel-Nummer 294},
  number={11 Seiten},
  note={Gesehen am 30.11.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-01557-8},
}
@article{UBHD-69319281,
  author={Marbach, Felix and Schaaf, Christian P.},
  title={Response to Briuglia et al.},
  year={2021},
  pages={423-424},
  language={eng},
  issn={1530-0366},
  volume={23},
  number={2 vom: Feb.},
  note={Published online: 5 October 2020 ; Gesehen am 17.03.2025},
  journal={Genetics in medicine},
  doi={10.1038/s41436-020-00977-y},
}
@article{UBHD-68725817,
  author={Marbach, Felix and Stoyanov, Georgi and Erger, Florian and Stratakis, Constantine A. and Settas, Nikolaos and London, Edra and Rosenfeld, Jill A. and Torti, Erin and Haldeman-Englert, Chad and Sklirou, Evgenia and Kessler, Elena and Ceulemans, Sophia and Nelson, Stanley F. and Martinez-Agosto, Julian A. and Palmer, Christina G. S. and Signer, Rebecca H. and Andrews, Marisa V. and Grange, Dorothy K. and Willaert, Rebecca and Person, Richard and Telegrafi, Aida and Sievers, Aaron and Laugsch, Magdalena and Theiß, Susanne and Cheng, YuZhu and Lichtarge, Olivier and Katsonis, Panagiotis and Stocco, Amber and Schaaf, Christian P.},
  title={Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain},
  year={2021},
  pages={1465-1473},
  language={eng},
  issn={1530-0366},
  volume={23},
  number={8},
  note={Gesehen am 20.04.2021},
  journal={Genetics in medicine},
  doi={10.1038/s41436-021-01152-7},
  url={https://doi.org/10.1038/s41436-021-01152-7},
  library={UB},
}