@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-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-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-68917832,
  author={Demal, Till Joscha and Scholz, Tasja and Sch{\"u}ler, Helke and Olfe, Jakob and Fr{\"o}hlich, Anja and Speth, Fabian and Kodolitsch, Yskert von and Mir, Thomas S. and Reichenspurner, Hermann and Kubisch, Christian and Hempel, Maja and Rosenberger, Georg},
  title={Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype},
  year={2022},
  pages={1-12},
  language={eng},
  issn={2045-2322},
  volume={12},
  number={Artikel-ID 4489},
  note={Gesehen am 12.05.2022},
  journal={Scientific reports},
  doi={10.1038/s41598-022-08476-7},
}
@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-69253571,
  author={Hammann, Nicole Irene and Lenz, Dominic and Baric, Ivo and Crushell, Ellen and Vici, Carlo Dionisi and Distelmaier, Felix and Feillet, Francois and Freisinger, Peter and Hempel, Maja and Khoreva, Anna L. and Laass, Martin W. and Lacassie, Yves and Lainka, Elke and Larson-Nath, Catherine and Li, Zhongdie and Lipiński, Patryk and Lurz, Eberhard and Mégarbané, André and Nobre, Susana and Olivieri, Giorgia and Peters, Bianca and Prontera, Paolo and Schlieben, Lea D. and Seroogy, Christine M. and Sobacchi, Cristina and Suzuki, Shigeru and Tran, Christel and Vockley, Jerry and Wang, Jian-She and Wagner, Matias and Prokisch, Holger and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian},
  title={Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1096-7206},
  volume={141},
  note={Online verf{\"u}gbar: 11. Januar 2024, Artikelversion: 19. Januar 2024 ; Gesehen am 16.09.2024},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.108118},
}
@article{UBHD-69177295,
  author={Harms, Frederike Leonie and Dingemans, Alexander J. M. and Hempel, Maja and Pfundt, Rolph and Bierhals, Tatjana and Casar, Christian and M{\"u}ller, Christian and Niermeijer, Jikke-Mien F. and Fischer, Jan and Jahn, Arne and H{\"u}bner, Christoph and Majore, Silvia and Agolini, Emanuele and Novelli, Antonio and van der Smagt, Jasper and Ernst, Robert and van Binsbergen, Ellen and Mancini, Grazia M. S. and van Slegtenhorst, Marjon and Barakat, Tahsin Stefan and Wakeling, Emma L. and Kamath, Arveen and Downie, Lilian and Pais, Lynn and White, Susan M. and de Vries, Bert B. A. and Kutsche, Kerstin},
  title={Correction: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias},
  year={2023},
  pages={1},
  language={eng},
  issn={1530-0366},
  volume={25},
  note={Gesehen am 02.02.2024},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2023.100964},
}
@article{UBHD-69129277,
  author={Harms, Frederike Leonie and Dingemans, Alexander J. M. and Hempel, Maja and Pfundt, Rolph and Bierhals, Tatjana and Casar, Christian and M{\"u}ller, Christian and Niermeijer, Jikke-Mien F. and Fischer, Jan and Jahn, Arne and H{\"u}bner, Christoph and Majore, Silvia and Agolini, Emanuele and Novelli, Antonio and van der Smagt, Jasper and Ernst, Robert and van Binsbergen, Ellen and Mancini, Grazia M. S. and van Slegtenhorst, Marjon and Barakat, Tahsin Stefan and Wakeling, Emma L. and Kamath, Arveen and Downie, Lilian and Pais, Lynn and White, Susan M. and de Vries, Bert B. A. and Kutsche, Kerstin},
  title={De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias},
  year={2023},
  pages={1-19},
  language={eng},
  issn={1530-0366},
  volume={25},
  note={Gesehen am 21.11.2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2023.100927},
}
@article{UBHD-69195470,
  author={Hempel, Maja},
  title={Die methodische (R)evolution in der humangenetischen Medizin},
  subtitle={Chancen und Herausforderung},
  year={2024},
  pages={103-107},
  language={ger},
  issn={2196-2839},
  volume={24},
  number={1},
  note={Gesehen am 26.03.2024},
  journal={Forum Marsilius-Kolleg},
  doi={10.11588/fmk.2024.24.103687},
  url={https://doi.org/10.11588/fmk.2024.24.103687},
  library={UB},
}
@article{UBHD-69188623,
  author={Hempel, Maja and B{\"a}r, Stefan},
  title={Richtig beraten},
  subtitle={Patientenaufkl{\"a}rung in der Humangenetik},
  year={2024},
  pages={76-83},
  language={ger},
  volume={23(2024) vom: Feb.},
  note={Ver{\"o}ffentlicht: 2024-03-05 ; Gesehen am 06.03.2024},
  journal={Ruperto Carola},
  editor={Pfeiffer, Thomas},
  doi={10.17885/heiup.ruca.2024.23.24945},
  url={https://doi.org/10.17885/heiup.ruca.2024.23.24945},
  library={UB},
}
@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-69241271,
  author={Lenz, Dominic and Schlieben, Lea D. and Shimura, Masaru and Bianzano, Alyssa and Smirnov, Dmitrii and Kopajtich, Robert and Berutti, Riccardo and Adam, R{\"u}diger and Aldrian, Denise and Baric, Ivo and Baumann, Ulrich and Bozbulut, Neslihan E. and Brugger, Melanie and Brunet, Theresa and Bufler, Philip and Burnytė, Birutė and Calvo, Pier L. and Crushell, Ellen and Dalgiç, Buket and Das, Anibh M. and Dezsőfi, Antal and Distelmaier, Felix and Fichtner, Alexander and Freisinger, Peter and Garbade, Sven and Gaspar, Harald and Goujon, Louise and Hadzic, Nedim and Hartleif, Steffen and Hegen, Bianca and Hempel, Maja and Henning, Stephan and Hoerning, Andre and Houwen, Roderick and Hughes, Joanne and Iorio, Raffaele and Iwanicka-Pronicka, Katarzyna and Jankofsky, Martin and Junge, Norman and Kanavaki, Ino and Kansu, Aydan and Kaspar, Sonja and Kathemann, Simone and Kelly, Deidre and Kirsaçlioğlu, Ceyda T. and Knoppke, Birgit and Kohl, Martina and K{\"o}lbel, Heike and K{\"o}lker, Stefan and Konstantopoulou, Vassiliki and Krylova, Tatiana and Kuloğlu, Zarife and Kuster, Alice and Laass, Martin W. and Lainka, Elke and Lurz, Eberhard and Mandel, Hanna and Mayerhanser, Katharina and Mayr, Johannes A. and McKiernan, Patrick and McClean, Patricia and McLin, Valerie and Mention, Karine and M{\"u}ller, Hanna and Pasquier, Laurent and Pavlov, Martin and Pechatnikova, Natalia and Peters, Bianca and Petković Ramadža, Danijela and Piekutowska-Abramczuk, Dorota and Pilic, Denisa and Rajwal, Sanjay and Rock, Nathalie and Roetig, Agnès and Santer, René and Schenk, Wilfried and Semenova, Natalia and Sokollik, Christiane and Sturm, Ekkehard and Taylor, Robert W. and Tschiedel, Eva and Urbonas, Vaidotas and Urreizti, Roser and Vermehren, Jan and Vockley, Jerry and Vogel, Georg-Friedrich and Wagner, Matias and van der Woerd, Wendy and Wortmann, Saskia B. and Zakharova, Ekaterina and Hoffmann, Georg F. and Meitinger, Thomas and Murayama, Kei and Staufner, Christian and Prokisch, Holger},
  title={Genetic landscape of pediatric acute liver failure of indeterminate origin},
  year={2024},
  pages={1075-1087},
  language={eng},
  issn={1527-3350},
  volume={79},
  number={5 vom: Mai},
  note={Gesehen am 07.08.2024},
  journal={Hepatology},
  doi={10.1097/HEP.0000000000000684},
}
@article{UBHD-68969466,
  author={Oexle, Konrad and Hempel, Maja and Jauch, Anna and Meitinger, Thomas and Rivera-Brugués, Núria and Stengel-Rutkowski, Sabine and Strom, Tim},
  title={3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema},
  subtitle={further characterization of the dup(5p13) syndrome},
  year={2011},
  pages={225-230},
  language={eng},
  issn={1878-0849},
  volume={54},
  number={3 vom: Mai/Juni},
  note={Gesehen am 29.09.2022},
  journal={European journal of medical genetics},
  doi={10.1016/j.ejmg.2010.12.012},
}
@article{UBHD-69143066,
  author={Terhal, Paulien and Venhuizen, Anton J. and Lessel, Davor and Tan, Wen-Hann and Alswaid, Abdulrahman and Gr{\"u}n, Regina and Alzaidan, Hamad I. and von Kroge, Simon and Ragab, Nada and Hempel, Maja and Kubisch, Christian and Novais, Eduardo and Cristobal, Alba and Tripolszki, Kornelia and Bauer, Peter and Fischer-Zirnsak, Bj{\"o}rn and Nievelstein, Rutger A. J. and van Dijk, Atty and Nikkels, Peter and Oheim, Ralf and Hahn, Heidi and Bertoli-Avella, Aida and Maurice, Madelon M. and Kornak, Uwe},
  title={AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia},
  year={2023},
  pages={1470-1481},
  language={eng},
  issn={1537-6605},
  volume={110},
  number={9 vom: Sept.},
  note={Online verf{\"u}gbar: 14. August 2023, Artikelversion: 7. September 2023 ; Gesehen am 15.11.2023},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2023.07.011},
}
@article{UBHD-69131519,
  author={Ven, Amelie T. van der and Cabrera-Orefice, Alfredo and Wente, Isabell and Feichtinger, René G. and Tsiakas, Konstantinos and Weiss, Deike and Bierhals, Tatjana and Scholle, Leila and Prokisch, Holger and Kopajtich, Robert and Santer, René and Mayr, Johannes A. and Hempel, Maja and Wittig, Ilka},
  title={Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease},
  year={2023},
  pages={1-8},
  language={eng},
  issn={1096-7206},
  volume={140},
  note={Online verf{\"u}gbar 4 August 2023, Version des Artikels 10 August 2023 ; Gesehen am 18.10.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2023.107675},
}
@article{UBHD-69253625,
  author={Worthmann, Anna and Ridder, Julius and Piel, Sharlaine Y. L. and Evangelakos, Ioannis and Musfeldt, Melina and Voß, Hannah and O’Farrell, Marie and Fischer, Alexander W. and Adak, Sangeeta and Sundd, Monica and Siffeti, Hasibullah and Haumann, Friederike and Kloth, Katja and Bierhals, Tatjana and Heine, Markus and Pertzborn, Paul and Pauly, Mira and Scholz, Julia-Josefine and Kundu, Suman and Fuh, Marceline M. and Neu, Axel and T{\"o}dter, Klaus and Hempel, Maja and Knippschild, Uwe and Semenkovich, Clay F. and Schl{\"u}ter, Hartmut and Heeren, Joerg and Scheja, Ludger and Kubisch, Christian and Schlein, Christian},
  title={Fatty acid synthesis suppresses dietary polyunsaturated fatty acid use},
  year={2024},
  pages={1-13},
  language={eng},
  issn={2041-1723},
  volume={15},
  number={Artikel-ID 45},
  note={Gesehen am 16.09.2024},
  journal={Nature Communications},
  doi={10.1038/s41467-023-44364-y},
}