@article{UBHD-68655681,
  author={Adang, Laura A. and Pizzino, Amy and Malhotra, Alka and Dubbs, Holly and Williams, Catherine and Sherbini, Omar and Anttonen, Anna-Kaisa and Lesca, Gaetan and Linnankivi, Tarja and Laurencin, Chloé and Milh, Matthieu and Perrine, Charles and Schaaf, Christian P. and Poulat, Anne-Lise and Ville, Dorothee and Hagelstrom, Tanner and Perry, Denise L. and Taft, Ryan J. and Goldstein, Amy and Vossough, Arastoo and Helbig, Ingo and Vanderver, Adeline},
  title={Phenotypic and imaging spectrum associated wth WDR45},
  year={2020},
  pages={56-62},
  language={eng},
  issn={1873-5150},
  volume={109},
  note={Gesehen am 30.10.2020},
  journal={Pediatric neurology},
  doi={10.1016/j.pediatrneurol.2020.03.005},
}
@article{UBHD-69115030,
  author={Ahmad, Olfat and Sutter, Christian and Hirsch, Steffen and Pfister, Stefan and Schaaf, Christian P.},
  title={BRCA1/2 potential founder variants in the Jordanian population},
  subtitle={an opportunity for a customized screening panel},
  year={2023},
  pages={1-9},
  language={eng},
  issn={1897-4287},
  volume={21},
  number={Artikel-ID 11},
  note={Ver{\"o}ffentlicht: 3. Juli 2023 ; Gesehen am 22.08.2023},
  journal={Hereditary cancer in clinical practice},
  doi={10.1186/s13053-023-00256-2},
  url={https://doi.org/10.1186/s13053-023-00256-2},
  library={UB},
}
@article{UBHD-69247399,
  author={Althammer, Ferdinand and Wimmer, Moritz Claudius and Krabichler, Quirin and Schimmer, Stephanie and Schimmer, Jonas and Fr{\"o}hlich, Henning and D{\"o}tsch, Laura and Gruber, Tim and Wunsch, Selina and Schubert, Tim and Kirchner, Matthew K. and Stern, Javier E. and Charlet, Alexandre and Grinevich, Valéry and Schaaf, Christian P.},
  title={Analysis of the hypothalamic oxytocin system and oxytocin receptor-expressing astrocytes in a mouse model of Prader-Willi syndrome},
  year={2022},
  pages={1-13},
  language={eng},
  issn={1365-2826},
  volume={34},
  note={Erstmals online ver{\"o}ffentlicht: 14. November 2022 ; Gesehen am 27.08.2024},
  journal={Journal of neuroendocrinology},
  doi={10.1111/jne.13217},
}
@article{UBHD-69047466,
  author={Althammer, Ferdinand and Muscatelli, Françoise and Grinevich, Valéry and Schaaf, Christian P.},
  title={Oxytocin-based therapies for treatment of Prader-Willi and Schaaf-Yang syndromes},
  subtitle={evidence, disappointments, and future research strategies},
  year={2022},
  pages={1-11},
  language={eng},
  issn={2158-3188},
  volume={12},
  number={Artikel-ID 318},
  note={Gesehen am 03.03.2023},
  journal={Translational Psychiatry},
  doi={10.1038/s41398-022-02054-1},
  url={https://doi.org/10.1038/s41398-022-02054-1},
  library={UB},
}
@article{UBHD-68483982,
  author={Ballinger, Elizabeth C. and Schaaf, Christian P. and Patel, Akash J.},
  title={Mecp2 deletion from cholinergic neurons selectively impairs recognition memory and disrupts cholinergic modulation of the perirhinal cortex},
  year={2019},
  pages={13 S.},
  language={eng},
  issn={2373-2822},
  volume={6(2019},
  note={Gesehen am 03.02.2020},
  journal={eNeuro},
  doi={10.1523/ENEURO.0134-19.2019},
}
@article{UBHD-68960108,
  author={Baudon, Angel and Creusot, Etienne Clauss and Althammer, Ferdinand and Schaaf, Christian P. and Charlet, Alexandre},
  title={Emerging role of astrocytes in oxytocin-mediated control of neural circuits and brain functions},
  year={2022},
  pages={1-10},
  language={eng},
  issn={1873-5118},
  volume={217},
  number={Artikel-ID 102328},
  note={Online verf{\"u}gbar am 21. Juli 2022, Artikelversion vom 26. Juli 2022 ; Gesehen am 05.09.2022},
  journal={Progress in neurobiology},
  doi={10.1016/j.pneurobio.2022.102328},
}
@article{UBHD-68933473,
  author={Bertacchi, Michele and Tocco, Chiara and Schaaf, Christian P. and Studer, Michèle},
  title={Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome},
  year={2022},
  pages={1-47},
  language={eng},
  issn={2073-4409},
  volume={11},
  note={This article belongs to the Special Issue: Pathophysiological Mechanism of Neurodevelopmental Disorders ; Gesehen am 22.06.2022},
  journal={Cells},
  doi={10.3390/cells11081260},
}
@article{UBHD-69272299,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Comparative analysis of gene and disease selection in genomic newborn screening studies},
  year={2024},
  pages={945-970},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={5 vom: Sept.},
  note={Ver{\"o}ffentlicht: 16 May 2024 ; Gesehen am 11.11.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12750},
}
@article{UBHD-69356597,
  author={Betzler, Isabel R. and Hempel, Maja and M{\"u}tze, Ulrike and K{\"o}lker, Stefan and Winkler, Eva C. and Dikow, Nicola and Garbade, Sven and Schaaf, Christian P. and Brennenstuhl, Heiko},
  title={Response to Downie et al.},
  year={2025},
  pages={1-2},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Online ver{\"o}ffentlicht: 14 Januar 2025 ; Gesehen am 16.06.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12837},
}
@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-69154003,
  author={Brennenstuhl, Heiko and Schaaf, Christian P.},
  title={Genomisches Neugeborenenscreening - Forschungsans{\"a}tze, Herausforderungen und Chancen},
  year={2023},
  pages={1232-1242},
  language={ger},
  issn={1437-1588},
  volume={66},
  number={11},
  note={Online publiziert: 13. Oktober 2023 ; Gesehen am 18.12.2023},
  journal={Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz},
  doi={10.1007/s00103-023-03777-2},
}
@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-68558468,
  author={Chen, Chun-An and Schaaf, Christian P.},
  title={Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder},
  year={2020},
  pages={459-470},
  language={eng},
  issn={1460-2083},
  volume={29},
  number={3},
  note={Gesehen am 26.03.2020},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddz305},
}
@article{UBHD-68576340,
  author={Chen, Chun-An and Wang, Wei and Pedersen, Steen E. and Raman, Ayush and Seymour, Michelle L. and Ruiz, Fernanda R. and Xia, Anping and van der Heijden, Meike E. and Wang, Li and Yin, Jiani and Lopez, Joanna and Rech, Megan E. and Lewis, Richard A. and Wu, Samuel M. and Liu, Zhandong and Pereira, Fred A. and Pautler, Robia G. and Zoghbi, Huda Y. and Schaaf, Christian P.},
  title={Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity},
  year={2020},
  pages={705-715},
  language={eng},
  issn={1460-2083},
  volume={29},
  number={5},
  note={Advance Access Publication Date: 10 October 2019 ; Gesehen am 13.05.2020},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddz233},
}
@article{UBHD-68460325,
  author={Crutcher, Emeline and Pal, Rituraj and Naini, Fatemeh and Zhang, Ping and Laugsch, Magdalena and Kim, Jean and Bajic, Aleksandar and Schaaf, Christian P.},
  title={mTOR and autophagy pathways are dysregulated in murine and human models of Schaaf-Yang syndrome},
  year={2019},
  pages={13 S.},
  language={eng},
  issn={2045-2322},
  volume={9(2019) Artikel-Nummer 15935},
  number={13 Seiten},
  note={Gesehen am 26.11.2019},
  journal={Scientific reports},
  doi={10.1038/s41598-019-52287-2},
}
@article{UBHD-69052751,
  author={Desai, Nilesh and Kralik, S. F. and Edmond, J. C. and Shah, V. and Huisman, T. a. G. M. and Rech, M. and Schaaf, Christian P.},
  title={Common neuroimaging findings in Bosch-Boonstra-Schaaf optic atrophy syndrome},
  year={2023},
  pages={212-217},
  language={eng},
  issn={1936-959X},
  volume={44},
  number={2 vom: Feb.},
  note={Gesehen am 16.11.2023},
  journal={American journal of neuroradiology},
  doi={10.3174/ajnr.A7758},
}
@article{UBHD-68985631,
  author={Dias, Kerith-Rae and Carlston, Colleen M. and Blok, Laura E. R. and De Hayr, Lachlan and Nawaz, Urwah and Evans, Carey-Anne and Bayrak-Toydemir, Pinar and Htun, Stephanie and Zhu, Ying and Ma, Alan and Lynch, Sally Ann and Moorwood, Catherine and Stals, Karen and Ellard, Sian and Bainbridge, Matthew N. and Friedman, Jennifer and Pappas, John G. and Rabin, Rachel and Nowak, Catherine B. and Douglas, Jessica and Wilson, Theodore E. and Guillen Sacoto, Maria J. and Mullegama, Sureni V. and Palculict, Timothy Blake and Kirk, Edwin P. and Pinner, Jason R. and Edwards, Matthew and Montanari, Francesca and Graziano, Claudio and Pippucci, Tommaso and Dingmann, Bri and Glass, Ian and Mefford, Heather C. and Shimoji, Takeyoshi and Suzuki, Toshimitsu and Yamakawa, Kazuhiro and Streff, Haley and Schaaf, Christian P. and Slavotinek, Anne M. and Voineagu, Irina and Carey, John C. and Buckley, Michael F. and Schenck, Annette and Harvey, Robert J. and Roscioli, Tony},
  title={De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations},
  year={2022},
  pages={1952-1966},
  language={eng},
  issn={1530-0366},
  volume={24},
  number={9},
  note={Gesehen am 15.11.2022},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2022.06.001},
}
@article{UBHD-68941126,
  author={Dikow, Nicola and Ditzen, Beate and K{\"o}lker, Stefan and Hoffmann, Georg F. and Schaaf, Christian P.},
  title={From newborn screening to genomic medicine},
  subtitle={challenges and suggestions on how to incorporate genomic newborn screening in public health programs},
  year={2022},
  pages={13-20},
  language={eng},
  issn={1863-5490},
  volume={34},
  number={1},
  note={Gesehen am 13.07.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2022-2113},
}
@article{UBHD-69329053,
  author={Elbracht, Miriam and Auber, Bernd and Kurth, Ingo and Stenzinger, Albrecht and Schaaf, Christian P. and Schroeder, Christopher},
  title={Humangenetische Diagnostik bei onkologischen Erkrankungen},
  subtitle={Bedeutung von Tumorrisikosyndromen f{\"u}r Therapie und Pr{\"a}vention},
  year={2024},
  pages={922-931},
  language={ger},
  issn={2731-7234},
  volume={30},
  number={10 vom: Okt.},
  note={Online ver{\"o}ffentlicht am 12. August 2024 ; Gesehen am 08.04.2025},
  journal={Die Onkologie},
  doi={10.1007/s00761-024-01562-7},
}
@article{UBHD-68928234,
  author={Erhart, Philipp and K{\"o}rfer, Daniel and Grond-Ginsbach, Caspar and Qiao, Jia-Lu and Bischoff, Moritz and Hempel, Maja and Schaaf, Christian P. and Grau, Armin J. and B{\"o}ckler, Dittmar},
  title={Genetic variation in LRP1 associates with Stanford Type B aortic dissection risk and clinical outcome},
  year={2022},
  pages={1-8},
  language={eng},
  issn={2308-3425},
  volume={9},
  note={Gesehen am 08.06.2022},
  journal={Journal of cardiovascular development and disease},
  doi={10.3390/jcdd9010014},
}
@article{UBHD-68955413,
  author={Erhart, Philipp and K{\"o}rfer, Daniel and Dihlmann, Susanne and Qiao, Jia-Lu and Haußer-Siller, Ingrid and Ringleb, Peter A. and M{\"a}nner, J{\"o}rg and Dikow, Nicola and Schaaf, Christian P. and Grond-Ginsbach, Caspar and B{\"o}ckler, Dittmar},
  title={Multiple arterial dissections and connective tissue abnormalities},
  year={2022},
  pages={1-9},
  language={eng},
  issn={2077-0383},
  volume={11},
  note={Gesehen am 18.08.2022 ; This article belongs to the special issue "New frontiers in the clinical management of stroke"},
  journal={Journal of Clinical Medicine},
  doi={10.3390/jcm11123264},
}
@book{UBHD-69140233,
  author={Jungkunz, Martin and Cornelius, Kai and Schickhardt, Christoph and Dikow, Nicola and Winkler, Eva C. and Brors, Benedikt and Fr{\"o}hling, Stefan and Greulich-Bode, Karin Maria and Idler, Irina and Lichter, Peter and Milde, Till and Pfister, Stefan and Schaaf, Christian P. and Wiemann, Stefan},
  title={Position paper on the return of additional genetic findings in minors},
  publisher={Marsilius-Kolleg},
  address={Heidelberg},
  year={2023},
  pages={1 Online-Ressource (120 Seiten)},
  language={eng},
  number={ARRAY(0x563a0917c7a8)},
  series={Forum Marsilius-Kolleg},
  note={Gesehen am 06.11.2023},
  url={https://doi.org/10.11588/fmk.2023.23.100566},
  library={UB},
}
@book{UBHD-69139948,
  author={Jungkunz, Martin and Cornelius, Kai and Schickhardt, Christoph and Dikow, Nicola and Winkler, Eva C. and Brors, Benedikt and Fr{\"o}hling, Stefan and Greulich-Bode, Karin Maria and Idler, Irina and Lichter, Peter and Milde, Till and Pfister, Stefan and Schaaf, Christian P. and Wiemann, Stefan},
  organization={Projektgruppe EURAT},
  title={Stellungnahme zur R{\"u}ckmeldung genetischer Zusatzbefunde Minderj{\"a}hriger},
  publisher={Marsilius-Kolleg},
  address={Heidelberg},
  year={2023},
  pages={1 Online-Ressource (130 Seiten)},
  language={ger},
  number={ARRAY(0x563a09145098)},
  series={Forum Marsilius-Kolleg},
  note={Gesehen am 06.11.2023},
  doi={10.11588/fmk.2023.23.98739},
  url={https://doi.org/10.11588/fmk.2023.23.98739},
  library={UB},
}
@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-68705860,
  author={Heil, Karsten M. and Schaaf, Christian P.},
  title={The genetics of Autism Spectrum Disorders},
  subtitle={a guide for clinicians},
  year={2013},
  pages={8 S.},
  language={eng},
  issn={1535-1645},
  volume={15(2013},
  note={Published online: 13 December 2012 ; Gesehen am 08.10.2021},
  journal={Current psychiatry reports},
  doi={10.1007/s11920-012-0334-3},
}
@article{UBHD-69292385,
  author={Heimd{\"o}rfer, David and Vorleuter, Alexander and Eschlb{\"o}ck, Alexander and Spathopoulou, Angeliki and Suarez-Cubero, Marta and Farhan, Hesso and Reiterer, Veronika and Spanjaard, Melanie and Schaaf, Christian P. and Huber, Lukas A. and Kremser, Leopold and Sarg, Bettina and Edenhofer, Frank and Geley, Stephan and de Araujo, Mariana E. G. and Huettenhofer, Alexander},
  title={Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes},
  year={2024},
  pages={1383-1404},
  language={eng},
  issn={1537-6605},
  volume={111},
  number={7 vom: Juli},
  note={Online verf{\"u}gbar: 21. Juni 2024, Artikelversion: 11. Juli 2024 ; Gesehen am 20.01.2025},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2024.05.023},
}
@article{UBHD-69321402,
  author={Herdt, Rudolf and Kinzel, Louisa and Maaß, Johann Georg and Walther, Marvin and Fr{\"o}hlich, Henning and Schubert, Tim Felix and Maass, Peter and Schaaf, Christian P.},
  title={Enhancing the analysis of murine neonatal ultrasonic vocalizations},
  subtitle={development, evaluation, and application of different mathematical models},
  year={2024},
  pages={2448-2466},
  language={eng},
  issn={1520-8524},
  volume={156},
  number={4 vom: Okt.},
  note={Gesehen am 24.03.2025},
  journal={The journal of the Acoustical Society of America},
  doi={10.1121/10.0030473},
}
@article{UBHD-68808431,
  author={Hirsch, Steffen and Gieldon, Laura and Sutter, Christian and Dikow, Nicola and Schaaf, Christian P.},
  title={Germline testing for homologous recombination repair genes},
  subtitle={opportunities and challenges},
  year={2021},
  pages={332-343},
  language={eng},
  issn={1098-2264},
  volume={60},
  number={5},
  note={First published: 20 October 2020 ; Gesehen am 06.12.2021},
  journal={Genes, chromosomes & cancer},
  doi={10.1002/gcc.22900},
  url={https://doi.org/10.1002/gcc.22900},
  library={UB},
}
@article{UBHD-69327606,
  author={Holzmann-Littig, Christopher Werner Karl and Stadler, David and Popp, Maria and Kranke, Peter and Fichtner, Falke and Schmaderer, Christoph and Renders, Lutz and Braunisch, Matthias Christoph and Assali, Tarek and Platen, Louise and Wijnen-Meijer, Marjo and L{\"u}hnen, Julia and Steckelberg, Anke and Pfadenhauer, Lisa Maria and Haller, Bernhard and Fuetterer, Cornelia and Seeber, Christian Manuel and Schaaf, Christian P.},
  title={Locating medical information during an infodemic},
  subtitle={information seeking behavior and strategies of health-care workers in Germany},
  year={2023},
  pages={1-24},
  language={eng},
  issn={2227-9032},
  volume={11},
  journal={Healthcare},
  doi={10.3390/healthcare11111602},
}
@article{UBHD-69079218,
  author={Horak, Peter and Leichsenring, Jonas and Goldschmid, Hannah and Kreutzfeldt, Simon and Kazdal, Daniel and Teleanu, Maria-Veronica and Endris, Volker and Gieldon, Laura and Allg{\"a}uer, Michael and Volckmar, Anna-Lena and Dikow, Nicola and Renner, Marcus and Kirchner, Martina and Penzel, Roland and Pl{\"o}ger, Carolin and Brandt, Regine and Şeker-Cin, Huriye and Budczies, Jan and Heilig, Christoph E. and Neumann, Olaf and Schaaf, Christian P. and Schirmacher, Peter and Fr{\"o}hling, Stefan and Stenzinger, Albrecht},
  title={Assigning evidence to actionability},
  subtitle={an introduction to variant interpretation in precision cancer medicine},
  year={2022},
  pages={303-313},
  language={eng},
  issn={1098-2264},
  volume={61},
  journal={Genes, chromosomes & cancer},
  doi={10.1002/gcc.22987},
}
@article{UBHD-69253597,
  author={Iwasaki, Mai and Lefevre, Arthur and Althammer, Ferdinand and Clauss Creusot, Etienne and Łąpieś, Olga and Petitjean, Hugues and Hilfiger, Louis and Kerspern, Damien and Melchior, Meggane and K{\"u}ppers, Stephanie and Krabichler, Quirin and Patwell, Ryan and Kania, Alan and Gruber, Tim and Kirchner, Matthew K. and Wimmer, Moritz and Fr{\"o}hlich, Henning and D{\"o}tsch, Laura and Schimmer, Jonas and Herpertz, Sabine and Ditzen, Beate and Schaaf, Christian P. and Sch{\"o}nig, Kai and Bartsch, Dusan and Gugula, Anna and Trenk, Aleksandra and Blasiak, Anna and Stern, Javier E. and Darbon, Pascal and Grinevich, Valéry and Charlet, Alexandre},
  title={An analgesic pathway from parvocellular oxytocin neurons to the periaqueductal gray in rats},
  year={2023},
  pages={1066$p1-20},
  language={eng},
  issn={2041-1723},
  volume={14},
  number={1},
  note={Gesehen am 16.09.2024},
  journal={Nature Communications},
  doi={10.1038/s41467-023-36641-7},
}
@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-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-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-68669973,
  author={Liu, Pengfei and Meng, Linyan and Normand, Elizabeth A. and Xia, Fan and Song, Xiaofei and Ghazi, Andrew and Rosenfeld, Jill and Magoulas, Pilar L. and Braxton, Alicia and Ward, Patricia and Dai, Hongzheng and Yuan, Bo and Bi, Weimin and Xiao, Rui and Wang, Xia and Chiang, Theodore and Vetrini, Francesco and He, Weimin and Cheng, Hanyin and Dong, Jie and Gijavanekar, Charul and Benke, Paul J. and Bernstein, Jonathan A. and Eble, Tanya and Eroglu, Yasemen and Erwin, Deanna and Escobar, Luis and Gibson, James B. and Gripp, Karen and Kleppe, Soledad and Koenig, Mary K. and Lewis, Andrea M. and Natowicz, Marvin and Mancias, Pedro and Minor, LaKeesha and Scaglia, Fernando and Schaaf, Christian P. and Streff, Haley and Vernon, Hilary and Uhles, Crescenda L. and Zackai, Elaine H. and Wu, Nan and Sutton, V. Reid and Beaudet, Arthur L. and Muzny, Donna and Gibbs, Richard A. and Posey, Jennifer E. and Lalani, Seema and Shaw, Chad and Eng, Christine M. and Lupski, James R. and Yang, Yaping},
  title={Correspondence: reanalysis of clinical exome sequencing data},
  year={2019},
  pages={2478-2480},
  language={eng},
  issn={1533-4406},
  volume={380},
  number={25},
  note={This letter was updated on August 15, 2019, at NEJM.org ; Complete list of authors: Pengfei Liu, Linyan Meng, Elizabeth A. Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L. Magoulas, Alicia Braxton, Patricia Ward, Hongzheng Dai, Bo Yuan, Weimin Bi, Rui Xiao, Xia Wang, Theodore Chiang, Francesco Vetrini, Weimin He, Hanyin Cheng, Jie Dong, Charul Gijavanekar, Paul J. Benke, Jonathan A. Bernstein, Tanya Eble, Yasemen Eroglu, Deanna Erwin, Luis Escobar, James B. Gibson, Karen Gripp, Soledad Kleppe, Mary K. Koenig, Andrea M. Lewis, Marvin Natowicz, Pedro Mancias, LaKeesha Minor, Fernando Scaglia, Christian P. Schaaf, Haley Streff, Hilary Vernon, Crescenda L. Uhles, Elaine H. Zackai, Nan Wu, V. Reid Sutton, Arthur L. Beaudet, Donna Muzny, Richard A. Gibbs, Jennifer E. Posey, Seema Lalani, Chad Shaw, Christine M. Eng, James R. Lupski, Yaping Yang ; Gesehen am 03.12.2020},
  journal={The New England journal of medicine},
  doi={10.1056/NEJMc1812033},
}
@article{UBHD-68772283,
  author={Ludorf, Katherine L. and Benjamin, Renata H. and Navarro Sanchez, Maria Luisa and McLean, Scott D. and Northrup, Hope and Mitchell, Laura E. and Langlois, Peter H. and Canfield, Mark A. and Scheuerle, Angela E. and Scott, Daryl A. and Schaaf, Christian P. and Ray, Joseph W. and Oluwafemi, Omobola and Chen, Han and Swartz, Michael D. and Lupo, Philip J. and Agopian, A. J.},
  title={Corrigendum to “Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8]},
  year={2021},
  pages={1},
  language={eng},
  issn={1873-4898},
  note={Gesehen am 19.08.2021},
  journal={Journal of pediatric urology},
  doi={10.1016/j.jpurol.2021.07.008},
}
@article{UBHD-68772128,
  author={Ludorf, Katherine L. and Benjamin, Renata H. and Navarro Sanchez, Maria Luisa and McLean, Scott D. and Northrup, Hope and Mitchell, Laura E. and Langlois, Peter H. and Canfield, Mark A. and Scheuerle, Angela E. and Scott, Daryl A. and Schaaf, Christian P. and Ray, Joseph W. and Oluwafemi, Omobola and Chen, Han and Swartz, Michael D. and Lupo, Philip J. and Agopian, A. J.},
  title={Patterns of co-occurring birth defects among infants with hypospadias},
  year={2021},
  pages={64.e1-64.e8},
  language={eng},
  issn={1873-4898},
  volume={17},
  number={1 vom: Feb.},
  note={Gesehen am 19.08.2021 ; First published: 12 November 2020},
  journal={Journal of pediatric urology},
  doi={10.1016/j.jpurol.2020.11.015},
}
@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},
}
@article{UBHD-68677315,
  author={Mederer, Tanja and Schmitteckert, Stefanie and Volz, Julia and Martinez, Cristina and R{\"o}th, Ralph and Thumberger, Thomas and Eckstein, Volker and Scheuerer, Jutta and Th{\"o}ni, Cornelia and Lasitschka, Felix and Carstensen, Leonie and G{\"u}nther, Patrick and Holland-Cunz, Stefan and Hofstraat, Robert G. and Brosens, Erwin and Rosenfeld, Jill A. and Schaaf, Christian P. and Schriemer, Duco and Ceccherini, Isabella and Rusmini, Marta and Tilghman, Joseph and Luzón-Toro, Berta and Torroglosa, Ana and Borrego, Salud and Tang, Clara Sze-man and Garcia-Barceló, Mercè and Tam, Paul and Paramasivam, Nagarajan and Bewerunge-Hudler, Melanie and Torre, Carolina de la and Gretz, Norbert and Rappold, Gudrun and Romero, Philipp and Niesler, Beate},
  title={A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease},
  year={2020},
  pages={e1009106},
  language={eng},
  issn={1553-7404},
  volume={16},
  number={11},
  note={Gesehen am 07.01.2021},
  journal={PLoS Genetics},
  doi={10.1371/journal.pgen.1009106},
}
@article{UBHD-69106096,
  author={Menzel, Michael and Endris, Volker and Schwab, Constantin and Kluck, Klaus and Neumann, Olaf and Beck, Susanne and Ball, Markus and Schaaf, Christian P. and Fr{\"o}hling, Stefan and Lichtner, Peter and Schirmacher, Peter and Kazdal, Daniel and Stenzinger, Albrecht and Budczies, Jan},
  title={Accurate tumor purity determination is critical for the analysis of homologous recombination deficiency (HRD)},
  year={2023},
  pages={1-10},
  language={eng},
  issn={1936-5233},
  volume={35(2023) vom: Sept.},
  number={Artikel-ID 101706},
  note={Online verf{\"u}gbar: 14. Juni 2023 ; Gesehen am 03.08.2023},
  journal={Translational oncology},
  doi={10.1016/j.tranon.2023.101706},
}
@article{UBHD-69295119,
  author={Menzel, Michael and Martis-Thiele, Mihaela and Goldschmid, Hannah and Ott, Alexander and Romanovsky, Eva and Hirsch, Steffen and Dikow, Nicola and G{\"o}bel, Kirsten and Banan, Rouzbeh and Hamelmann, Stefan and Fink, Annette and Ball, Markus and Neumann, Olaf and Sahm, Felix and Klauschen, Frederick and Schaaf, Christian P. and Malek, Nisar and Schirmacher, Peter and Kazdal, Daniel and Pfarr, Nicole and Budczies, Jan and Stenzinger, Albrecht},
  title={Benchmarking whole exome sequencing in the German network for personalized medicine},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1879-0852},
  volume={211},
  number={Artikel-ID 114306},
  note={Gesehen am 28.01.2025 ; Online verf{\"u}gbar: 8. September 2024, Artikelversion: 17. September 2024},
  journal={European journal of cancer},
  doi={10.1016/j.ejca.2024.114306},
}
@article{UBHD-69009020,
  author={Pixberg, Constantin Frederic and Zapatka, Marc and Hlevnjak, M. and Benedetto, S. and Suppelna, J. P. and Heil, J{\"o}rg and Smetanay, Katharina and Michel, Laura L. and Fremd, Carlo and K{\"o}rber, V. and R{\"u}bsam, M. and Buschhorn, Lars and Heublein, Sabine and Sch{\"a}fgen, Benedikt and Golatta, Michael and Gomez, C. and Au, Alexandra von and Wallwiener, Markus and Wolf, Sebastian Immanuel and Dikow, Nicola and Schaaf, Christian P. and Gutjahr, Ewgenija and Allg{\"a}uer, Michael and Stenzinger, Albrecht and Pf{\"u}tze, K. and Kirsten, R. and H{\"u}bschmann, Daniel and Sinn, Peter and J{\"a}ger, Dirk and Trumpp, Andreas and Schlenk, Richard Friedrich and H{\"o}fer, Thomas and Thewes, V. and Schneeweiss, Andreas and Lichter, Peter},
  title={Cognition},
  subtitle={a prospective precision oncology trial for patients with early breast cancer at high risk following neoadjuvant chemotherapy},
  year={2022},
  pages={1-12},
  language={eng},
  issn={2059-7029},
  volume={7},
  note={Gesehen am 23.01.2023},
  journal={ESMO open},
  doi={10.1016/j.esmoop.2022.100637},
}
@book{UBHD-69316526,
  author={Jungkunz, Martin and Cornelius, Kai and Schickhardt, Christoph and Dikow, Nicola and Winkler, Eva C. and Brors, Benedikt and Fr{\"o}hling, Stefan and Greulich-Bode, Karin Maria and Idler, Irina and Lichter, Peter and Milde, Till and Pfister, Stefan and Schaaf, Christian P. and Wiemann, Stefan},
  organization={Projektgruppe EURAT},
  title={Stellungnahme zur R{\"u}ckmeldung genetischer Zusatzbefunde Minderj{\"a}hriger},
  subtitle={Heidelberg, Oktober 2023},
  publisher={Sektion f{\"u}r Translationale Medizinethik},
  address={Heidelberg},
  year={2023},
  pages={130 Seiten},
  language={ger},
}
@article{UBHD-68639121,
  author={Rech, Megan E. and Schaaf, Christian P.},
  title={Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations},
  year={2020},
  pages={1426-1437},
  language={eng},
  issn={1552-4833},
  volume={182},
  number={6},
  note={Gesehen am 21.09.2020},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.61580},
  url={https://doi.org/10.1002/ajmg.a.61580},
  library={UB},
}
@article{UBHD-68943370,
  author={Rempel, Eugen and Kluck, Klaus and Beck, Susanne and Ourailidis, Iordanis and Kazdal, Daniel and Neumann, Olaf and Volckmar, Anna-Lena and Kirchner, Martina and Goldschmid, Hannah and Pfarr, N. and Weichert, Wilko and H{\"u}bschmann, Daniel and Fr{\"o}hling, Stefan and Sutter, Christian and Schaaf, Christian P. and Schirmacher, Peter and Endris, Volker and Stenzinger, Albrecht and Budczies, Jan},
  title={Pan-cancer analysis of genomic scar patterns caused by homologous repair deficiency (HRD)},
  year={2022},
  pages={1-13},
  language={eng},
  issn={2397-768X},
  volume={6},
  number={Artikel-ID 36},
  note={Gesehen am 18.07.2022},
  journal={npj precision oncology},
  doi={10.1038/s41698-022-00276-6},
  url={https://doi.org/10.1038/s41698-022-00276-6},
  library={UB},
}
@article{UBHD-69071651,
  author={Reznik, Derek and Yang, Mingxiao V. and Albelda de la Haza, Pedro and Jain, Antrix and Spanjaard, Melanie and Theiß, Susanne and Schaaf, Christian P. and Malovannaya, Anna and Strong, Theresa V. and Veeraragavan, Surabi and Samaco, Rodney C.},
  title={Magel2 truncation alters select behavioral and physiological outcomes in a rat model of Schaaf-Yang syndrome},
  year={2023},
  pages={1-18},
  language={eng},
  issn={1754-8411},
  volume={16},
  note={Online ver{\"o}ffentlicht am 3. Februar 2023 ; Gesehen am 05.12.2023},
  journal={Disease models & mechanisms},
  doi={10.1242/dmm.049829},
}
@article{UBHD-68985643,
  author={Riggs, Erin Rooney and Bingaman, Taylor I. and Barry, Carrie-Ann and Behlmann, Andrea and Bluske, Krista and Bostwick, Bret and Bright, Alison and Chen, Chun-An and Clause, Amanda R. and Dharmadhikari, Avinash V. and Ganapathi, Mythily and Gonzaga-Jauregui, Claudia and Grant, Andrew R. and Hughes, Madeline Y. and Kim, Se Rin and Krause, Amanda and Liao, Jun and Lumaka, Aimé and Mah, Michelle and Maloney, Caitlin M. and Mohan, Shruthi and Osei-Owusu, Ikeoluwa A. and Reble, Emma and Rennie, Olivia and Savatt, Juliann M. and Shimelis, Hermela and Siegert, Rebecca K. and Sneddon, Tam P. and Thaxton, Courtney and Toner, Kelly A. and Tran, Kien Trung and Webb, Ryan and Wilcox, Emma H. and Yin, Jiani and Zhuo, Xinming and Znidarsic, Masa and Martin, Christa Lese and Betancur, Catalina and Vorstman, Jacob A. S. and Miller, David T. and Schaaf, Christian P.},
  title={Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels},
  year={2022},
  pages={1899-1908},
  language={eng},
  issn={1530-0366},
  volume={24},
  number={9},
  note={Gesehen am 15.11.2022},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2022.05.001},
}
@article{UBHD-69107517,
  author={Schaaf, Christian P. and Shan, Bing and Onofri, Chiara and Stalla, G{\"u}nter K. and Arzt, Eduardo and Schilling, Tobias and Perone, Marcelo J. and Renner, Ulrich},
  title={Curcumin inhibits the growth, induces apoptosis and modulates the function of pituitary folliculostellate cells},
  year={2010},
  pages={200-210},
  language={eng},
  issn={1423-0194},
  volume={91},
  number={2},
  note={Gesehen am 08.08.2023},
  journal={Neuroendocrinology},
  doi={10.1159/000287236},
}
@article{UBHD-68884396,
  author={Schaaf, Christian P.},
  title={Genetic counseling and the role of genetic counselors in the United States},
  year={2021},
  pages={29-34},
  language={eng},
  issn={1863-5490},
  volume={33},
  number={1},
  note={Gesehen am 02.03.2022},
  journal={Medizinische Genetik},
  doi={10.1515/medgen-2021-2054},
}
@book{UBHD-66081953,
  author={Schaaf, Christian P.},
  title={Identifikation neuer Interaktionspartner des MET-Rezeptors},
  year={2005},
  pages={137 Bl.},
  language={ger},
  school={Heidelberg, Univ., Diss., 2005},
  library={UB [Signatur: 2006 U 190]},
}
@article{UBHD-68557928,
  author={Schaaf, Christian P. and Rappold, Gudrun},
  title={Nachruf Prof. Dr. rer. nat. Werner Buselmaier},
  year={2019},
  pages={422-423},
  language={ger},
  issn={1863-5490},
  volume={31},
  number={4},
  journal={Medizinische Genetik},
}
@article{UBHD-69145792,
  author={Schraw, Jeremy and Benjamin, Renata H. and Scott, Daryl A. and Brooks, Brian P. and Hufnagel, Robert B. and McLean, Scott D. and Northrup, Hope and Langlois, Peter H. and Canfield, Mark A. and Scheuerle, Angela E. and Schaaf, Christian P. and Ray, Joseph W. and Chen, Han and Swartz, Michael D. and Mitchell, Laura E. and Agopian, A.J. and Lupo, Philip J.},
  title={A comprehensive assessment of co-occurring birth defects among infants with non-syndromic anophthalmia or microphthalmia},
  year={2021},
  pages={428-435},
  language={eng},
  issn={1744-5086},
  volume={28},
  number={5},
  note={Published online: 20 Dec 2020 ; Gesehen am 23.11.2023},
  journal={Ophthalmic epidemiology},
  doi={10.1080/09286586.2020.1862244},
}
@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-69282758,
  author={Schubert, Tim Felix and Schaaf, Christian P.},
  title={MAGEL2 (patho-)physiology and Schaaf-Yang syndrome},
  year={2025},
  pages={35-48},
  language={eng},
  issn={1469-8749},
  volume={67},
  number={1 vom: Jan.},
  note={Gesehen am 11.12.2024},
  journal={Developmental medicine and child neurology},
  doi={10.1111/dmcn.16018},
}
@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-68718681,
  author={Stern, Tehila and Crutcher, Emeline H. and McCarthy, John M. and Ali, May A. and Issachar, Gil and Geva, Amir B. and Peremen, Ziv and Schaaf, Christian P.},
  title={Brain Network Analysis of EEG recordings can be used to assess cognitive function in teenagers with 15q13.3 microdeletion syndrome},
  year={2021},
  pages={1-11},
  language={eng},
  issn={1662-453X},
  volume={15},
  number={Artikel-ID 622329},
  note={Gesehen am 31.03.2021},
  journal={Frontiers in neuroscience},
  doi={10.3389/fnins.2021.622329},
}
@article{UBHD-69152337,
  author={Vockley, Jerry and Brunetti-Pierri, Nicola and Chung, Wendy K. and Clarke, Angus J. and Gold, Nina and Green, Robert C. and Kagan, Stephen and Moroz, Tara and Schaaf, Christian P. and Schulz, Martin and Baere, Elfride De},
  title={Response to Beretich and Beretich},
  subtitle={letter to the editor},
  year={2023},
  pages={1-2},
  language={eng},
  issn={1530-0366},
  volume={25},
  note={Online verf{\"u}gbar: 25. Mai 2023, Artikelversion: 4. Oktober 2023 ; Gesehen am 13.12.2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2023.100903},
}
@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},
}
@article{UBHD-68674435,
  author={Yin, Jiani and Chun, Chun-An and Zavadenko, Nikolay N. and Pechatnikova, Natalia L. and Naumova, Oxana Yu and Doddapaneni, Harsha V. and Hu, Jianhong and Muzny, Donna M. and Schaaf, Christian P. and Grigorenko, Elena L.},
  title={Next generation sequencing of 134 children with autism spectrum disorder and regression},
  year={2020},
  pages={14 S.},
  language={eng},
  issn={2073-4425},
  volume={11(2020},
  note={Gesehen am 17.12.2020},
  journal={Genes},
  doi={10.3390/genes11080853},
}
@article{UBHD-68992667,
  author={Yuan, Bo and Schulze, Katharina V. and Assia Batzir, Nurit and Sinson, Jefferson and Dai, Hongzheng and Zhu, Wenmiao and Bocanegra, Francia and Fong, Chin-To and Holder, Jimmy and Nguyen, Joanne and Schaaf, Christian P. and Yang, Yaping and Bi, Weimin and Eng, Christine and Shaw, Chad and Lupski, James R. and Liu, Pengfei},
  title={Sequencing individual genomes with recurrent genomic disorder deletions},
  subtitle={an approach to characterize genes for autosomal recessive rare disease traits},
  year={2022},
  pages={1-24},
  language={eng},
  issn={1756-994X},
  volume={14},
  number={Artikel-ID 113},
  note={Gesehen am 05.12.2022},
  journal={Genome medicine},
  doi={10.1186/s13073-022-01113-y},
}