@article{UBHD-69296653,
  author={Bloomfield, Madeleine and Lautarescu, Alexandra and Heraty, Síofra and Douglas, Sarah and Violland, Pierre and Plas, Roderik and Ghosh, Anjuli and Bosch, Katrien Van den and Eaton, Eliza and Absoud, Michael and Battini, Roberta and Hinojosa, Ana Blázquez and Bolshakova, Nadia and B{\"o}lte, Sven and Bonanni, Paolo and Borg, Jacqueline and Calderoni, Sara and Escalona, Rosa Calvo and Castelo-Branco, Miguel and Castro-Fornieles, Josefina and Caro, Pilar and Cliquet, Freddy and Danieli, Alberto and Delorme, Richard and Elia, Maurizio and Hempel, Maja and Leblond, Claire S. and Madeira, Nuno and McAlonan, Grainne and Milone, Roberta and Molloy, Ciara J. and Mouga, Susana and Montiel, Virginia and Rodrigues, Ana Pina and Schaaf, Christian P. and Serrano, Mercedes and Tammimies, Kristiina and Tye, Charlotte and Vigevano, Federico and Oliveira, Guiomar and Mazzone, Beatrice and O’Neill, Cara and Pender, Julie and Romero, Verena and Tillmann, Julian and Oakley, Bethany and Murphy, Declan G. M. and Gallagher, Louise and Bourgeron, Thomas and Chatham, Christopher and Charman, Tony},
  title={European Autism GEnomics Registry (EAGER)},
  subtitle={protocol for a multicentre cohort study and registry},
  year={2024},
  pages={1-10},
  language={eng},
  issn={2044-6055},
  volume={14},
  note={Gesehen am 31.01.2025},
  journal={BMJ open},
  doi={10.1136/bmjopen-2023-080746},
}
@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-69265416,
  author={Laan, Liselot van der and Karimi, Karim and Rooney, Kathleen and Lauffer, Peter and McConkey, Haley and Caro, Pilar and Relator, Raissa and Levy, Michael A. and Bhai, Pratibha and Mignot, Cyril and Keren, Boris and Briuglia, Silvana and Sobering, Andrew K. and Li, Dong and Vissers, Lisenka E. L. M. and Dingemans, Alexander J. M. and Valenzuela, Irene and Verberne, Eline A. and Misra-Isrie, Mala and Zwijnenburg, Petra J. G. and Waisfisz, Quinten and Alders, Mariëlle and Sailer, Sebastian and Schaaf, Christian P. and Mannens, Marcel M. A. M. and Sadikovic, Bekim and van Haelst, Mieke M. and Henneman, Peter},
  title={DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7},
  year={2024},
  pages={1-15},
  language={eng},
  issn={1530-0366},
  volume={26},
  note={Online verf{\"u}gbar: 18 December 2023 ; Gesehen am 25.10.2024},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2023.101050},
}
@article{UBHD-69184460,
  author={Wimmer, Moritz Claudius and Brennenstuhl, Heiko and Hirsch, Steffen and D{\"o}tsch, Laura and Unser, Samy and Caro, Pilar and Schaaf, Christian P.},
  title={Hao-Fountain syndrome},
  subtitle={32 novel patients reveal new insights into the clinical spectrum},
  year={2024},
  pages={11 S.},
  language={eng},
  issn={1399-0004},
  volume={(2024) online ahead of print},
  note={Gesehen am 21.02.2024},
  journal={Clinical genetics},
  doi={10.1111/cge.14480},
}