@article{UBHD-68306442,
  author={Barić, Ivo and Staufner, Christian and Opladen, Thomas},
  title={Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders},
  year={2017},
  pages={5-20},
  language={eng},
  issn={1573-2665},
  volume={40},
  number={1},
  note={Published online: 26 September 2016 ; Gesehen am 20.09.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9972-7},
}
@article{UBHD-69231106,
  author={Brunet, Theresa and Zott, Benedikt and Lieft{\"u}chter, Victoria and Lenz, Dominic and Schmidt, Axel and Peters, Philipp and Kopajtich, Robert and Zaddach, Malin and Zimmermann, Hanna and H{\"u}ning, Irina and Ballhausen, Diana and Staufner, Christian and Bianzano, Alyssa and Hughes, Joanne and Taylor, Robert W. and McFarland, Robert and Devlin, Anita and Mihaljević, Mihaela and Barišić, Nina and Rohlfs, Meino and Wilfling, Sibylle and Sondheimer, Neal and Hewson, Stacy and Marinakis, Nikolaos M. and Kosma, Konstantina and Traeger-Synodinos, Joanne and Elbracht, Miriam and Begemann, Matthias and Trepels-Kottek, Sonja and Hasan, Dimah and Scala, Marcello and Capra, Valeria and Zara, Federico and van der Ven, Amelie T. and Driemeyer, Joenna and Apitz, Christian and Kr{\"a}mer, Johannes and Strong, Alanna and Hakonarson, Hakon and Watson, Deborah and Mayr, Johannes A. and Prokisch, Holger and Meitinger, Thomas and Borggraefe, Ingo and Spiegler, Juliane and Baric, Ivo and Paolini, Marco and Gerstl, Lucia and Wagner, Matias},
  title={De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke},
  year={2024},
  pages={1-12},
  language={eng},
  issn={1530-0366},
  volume={26},
  note={Gesehen am 05.07.2024 ; Online verf{\"u}gbar 1 November 2023, Version des Artikels 19 December 2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2023.101013},
}
@article{UBHD-68285008,
  author={Danhauser, Katharina and Sauer, Sven and Staufner, Christian and Traub, Thorsten and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={DHTKD1 mutations cause 2-Aminoadipic and 2-Oxoadipic aciduria},
  year={2012},
  pages={1082-1087},
  language={eng},
  issn={1537-6605},
  volume={91},
  number={6},
  note={Gesehen am 12.07.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2012.10.006},
}
@article{UBHD-68509294,
  author={Dimitrov, Bianca and Himmelreich, Nastassja and L{\"u}chtenborg, Christian and Okun, J{\"u}rgen G. and Breuer, Maximilian and Hutter, Anna-Marlen and Carl, Matthias and Guglielmi, Luca and Hellwig, Andrea and Thiemann, Kai Christian and Jost, Markus and Peters, Verena and Staufner, Christian and Hoffmann, Georg F. and Paramasivam, Nagarajan and Eils, Roland and Strahl, Sabine and Br{\"u}gger, Britta and Korenke, Christoph and Thiel, Christian},
  title={Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG},
  year={2018},
  pages={364-374},
  language={eng},
  issn={1096-7206},
  volume={123},
  number={3},
  note={Gesehen am 12.03.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2018.01.008},
}
@article{UBHD-68333409,
  author={El-Hattab, Ayman W. and Staufner, Christian},
  title={MPV17-related mitochondrial DNA maintenance defect},
  subtitle={new cases and review of clinical, biochemical, and molecular aspects},
  year={2018},
  pages={461-470},
  language={eng},
  issn={1098-1004},
  volume={39},
  number={4},
  note={First published: 27 December 2017 ; Gesehen am 28.11.2018},
  journal={Human mutation},
  doi={10.1002/humu.23387},
}
@article{UBHD-68319623,
  author={Evers, Christina and Staufner, Christian and Granzow, Martin and Paramasivam, Nagarajan and Hinderhofer, Katrin and Kaufmann, Lilian Tamara and Fischer, Christine and Thiel, Christian and Opladen, Thomas and Kotzaeridou, Urania and Eils, Roland and K{\"o}lker, Stefan and Bartram, Claus R. and Hoffmann, Georg F. and Moog, Ute},
  title={Impact of clinical exomes in neurodevelopmental and neurometabolic disorders},
  year={2017},
  pages={297-307},
  language={eng},
  issn={1096-7206},
  volume={121},
  number={4},
  note={Gesehen am 22.10.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2017.06.014},
}
@article{UBHD-68640094,
  author={Fischer, Hendrik S. and Staufner, Christian and Sallmon, Hannes and Henning, Stephan and B{\"u}hrer, Christoph},
  title={Early exchange transfusion to treat neonates with gestational alloimmune liver disease},
  subtitle={an 11-year cohort study},
  year={2020},
  pages={444-449},
  language={eng},
  issn={1536-4801},
  volume={70},
  number={4},
  note={Gesehen am 24.09.2020},
  journal={Journal of pediatric gastroenterology and nutrition},
  doi={10.1097/MPG.0000000000002593},
}
@incollection{UBHD-68910579,
  author={Garbade, Sven and Zielonka, Matthias and Mechler, Konstantin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian and Mengel, Eugen and Ries, Markus},
  title={FDA orphan drug designations for lysosomal storage disorders},
  subtitle={a cross sectional analysis},
  year={2020},
  pages={1-29},
  language={eng},
  note={Gesehen am 25.04.2022},
  booktitle={medRxiv},
  doi={10.1101/2020.01.05.20016568},
}
@article{UBHD-68613114,
  author={Garbade, Sven and Zielonka, Matthias and Mechler, Konstantin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian and Mengel, Eugen and Ries, Markus},
  title={FDA orphan drug designations for lysosomal storage disorders},
  subtitle={a cross-sectional analysis},
  year={2020},
  language={eng},
  issn={1932-6203},
  volume={15(2020},
  note={Gesehen am 02.07.2020},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0230898},
}
@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-68264360,
  author={Gr{\"u}nert, Sarah and Staufner, Christian},
  title={3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency},
  subtitle={clinical presentation and outcome in a series of 37 patients},
  year={2017},
  pages={206-215},
  language={eng},
  issn={1096-7206},
  volume={121},
  number={3},
  note={Available online 22 May 2017 ; Gesehen am 22.06.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2017.05.014},
}
@article{UBHD-68264363,
  author={Gr{\"u}nert, Sarah and Staufner, Christian and Korenke, Christoph},
  title={Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency},
  year={2017},
  pages={67-75},
  language={eng},
  issn={1096-7206},
  volume={121},
  number={1-2},
  note={Available online 27 June 2017 ; Gesehen am 22.06.2018},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2017.06.012},
}
@article{UBHD-67841112,
  author={Haack, Tobias and Kotzaeridou, Urania and Hoffmann, Georg F. and Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter},
  title={Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy},
  year={2015},
  pages={163-169},
  language={eng},
  issn={1537-6605},
  volume={97},
  number={1},
  note={Gesehen am 17.02.2021},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2015.05.009},
}
@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 Isabelle 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-68435325,
  author={Kleine-Eggebrecht, Nicola Alexandra and Staufner, Christian},
  title={Mutation in ITCH gene can cause syndromic multisystem autoimmune disease with acute liver failure},
  year={2019},
  pages={8 S.},
  language={eng},
  issn={1098-4275},
  volume={143(2019},
  note={Gesehen am 24.10.2019},
  journal={Pediatrics},
  doi={10.1542/peds.2018-1554},
}
@article{UBHD-68032810,
  author={K{\"o}lker, Stefan and Gleich, Florian and Haege, Gisela and Staufner, Christian and Burgard, Peter},
  title={Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 1 : the initial presentation},
  year={2015},
  pages={1155-1156},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9867-z},
}
@article{UBHD-68032790,
  author={K{\"o}lker, Stefan and Gleich, Florian and Haege, Gisela and Staufner, Christian and Burgard, Peter},
  title={The phenotypic spectrum of organic acidurias and urea cycle disorders},
  subtitle={part 1: the initial presentation},
  year={2015},
  pages={1041-1057},
  language={eng},
  issn={1573-2665},
  volume={38},
  number={6},
  note={Gesehen am 27.09.2016},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9839-3},
}
@article{UBHD-68235495,
  author={Kopajtich, Robert and Breuer, Maximilian and Harting, Inga and Kotzaeridou, Urania and K{\"o}lker, Stefan and Sauer, Sven and Carl, Matthias and Hoffmann, Georg F. and Staufner, Christian},
  title={Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy},
  year={2016},
  pages={414-422},
  language={eng},
  issn={1537-6605},
  volume={99},
  number={2},
  note={Gesehen am 22.03.2018},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2016.05.027},
}
@article{UBHD-68575508,
  author={Kovacevic, Alexander and Garbade, Sven and Hoffmann, Georg F. and Gorenflo, Matthias and K{\"o}lker, Stefan and Staufner, Christian},
  title={Cardiac phenotype in propionic acidemia},
  subtitle={results of an observational monocentric study},
  year={2020},
  pages={41-48},
  language={eng},
  issn={1096-7206},
  volume={130},
  number={1},
  note={Gesehen am 11.05.2020},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2020.02.004},
}
@article{UBHD-69008221,
  author={Kovacevic, Alexander and Garbade, Sven and H{\"o}rster, Friederike and Hoffmann, Georg F. and Gorenflo, Matthias and Mereles, Derliz and K{\"o}lker, Stefan and Staufner, Christian},
  title={Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study},
  year={2022},
  pages={349-358},
  language={eng},
  issn={1096-7206},
  volume={137},
  number={4},
  note={Online verf{\"u}gbar 2 November 2022, Artikelversion 14 November 2022 ; Gesehen am 19.01.2023},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2022.10.007},
}
@article{UBHD-69046272,
  author={Kovacevic, Alexander and Garbade, Sven and H{\"o}rster, Friederike and Hoffmann, Georg F. and Gorenflo, Matthias and Mereles, Derliz and K{\"o}lker, Stefan and Staufner, Christian},
  title={Evaluation of right ventricular function in patients with propionic acidemia},
  subtitle={a cross-sectional study},
  year={2023},
  pages={1-13},
  language={eng},
  issn={2227-9067},
  volume={10},
  note={Gesehen am 14.11.2023},
  journal={Children},
  doi={10.3390/children10010113},
}
@article{UBHD-69117760,
  author={Lenz, Dominic and Hørby Jørgensen, Marianne and Kelly, Deirdre and Cardinale, Vincenzo and Geerts, Anja and Gonçalves Costa, Isabel and Fichtner, Alexander and Garbade, Sven and Hegen, Bianca and Hilberath, Johannes and de Kleine, Ruben and Kupčinskas, Limas and McLin, Valérie and Niesert, Moritz and Prado Gonzalez, Veronica and Sturm, Ekkehard and Staufner, Christian and Tjwa, Eric and Willemse, José and Zecher, Britta F. and Larsen, Fin Stolze and Sebode, Marcial and Ytting, Henriette},
  title={Etiology and outcome of adult and pediatric acute liver failure in Europe},
  year={2023},
  pages={115-120},
  language={eng},
  issn={1536-4801},
  volume={77},
  number={1},
  note={Gesehen am 31.08.2023},
  journal={Journal of pediatric gastroenterology and nutrition},
  doi={10.1097/MPG.0000000000003777},
}
@article{UBHD-68393189,
  author={Lenz, Dominic and Staufner, Christian and W{\"a}chter, Selina and Hagedorn, Maike and Ebersold, Juliane and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Hoffmann, Georg F. and Jung-Klawitter, Sabine},
  title={Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1},
  year={2019},
  language={eng},
  issn={1876-7753},
  volume={37(2019) Artikel-Nummer 101428},
  number={5 Seiten},
  note={Gesehen am 27.05.2019},
  journal={Stem cell research},
  doi={10.1016/j.scr.2019.101428},
  url={https://doi.org/10.1016/j.scr.2019.101428},
  library={UB},
}
@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 Isabelle 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-69114527,
  author={Lenz, Dominic and Pahl, Jens and Hauck, Fabian and Alameer, Seham and Balasubramanian, Meena and Baric, Ivo and Boy, Nikolas and Church, Joseph A. and Crushell, Ellen and Dick, Anke and Distelmaier, Felix and Gujar, Jidnyasa and Indolfi, Giuseppe and Lurz, Eberhard and Peters, Bianca Isabelle and Schwerd, Tobias and Serranti, Daniele and K{\"o}lker, Stefan and Klein, Christoph and Hoffmann, Georg F. and Prokisch, Holger and Greil, Johann and Cerwenka, Adelheid and Giese, Thomas and Staufner, Christian},
  title={NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency},
  year={2021},
  pages={1781-1793},
  language={eng},
  issn={1573-2592},
  volume={41},
  number={8},
  note={Gesehen am 21.08.2023},
  journal={Journal of clinical immunology},
  doi={10.1007/s10875-021-01110-7},
  url={https://doi.org/10.1007/s10875-021-01110-7},
  library={UB},
}
@article{UBHD-68460890,
  author={Lenz, Dominic and Staufner, Christian},
  title={Response to Spagnoli et al. "On CALFAN syndrome},
  subtitle={Report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure response"},
  year={2019},
  pages={1665-1666},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={7},
  note={Gesehen am 27.11.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0388-7},
}
@article{UBHD-68494004,
  author={Lenz, Dominic and Thiel, Christian and Straub, Beate Katharina and Harting, Inga and Dimitrov, Bianca and Kotzaeridou, Urania and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian},
  title={SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)},
  year={2018},
  pages={1255-1265},
  language={eng},
  issn={1530-0366},
  volume={20},
  number={10},
  note={Gesehen am 27.02.2020},
  journal={Genetics in medicine},
  doi={10.1038/gim.2017.260},
}
@article{UBHD-68986166,
  author={Luksch, Hella and Uckermann, Ortrud and Stepulak, Andrzej and Hendruschk, Sandy and Marzahn, Jenny and Bastian, Susanne and Staufner, Christian and Temme, Achim and Ikonomidou, Chrysanthy},
  title={Silencing of selected glutamate receptor subunits modulates cancer growth},
  year={2011},
  pages={3181-3192},
  language={eng},
  issn={1791-7530},
  volume={31},
  number={10},
  note={Gesehen am 15.11.2022},
  journal={Anticancer research},
}
@article{UBHD-68285379,
  author={Maas, Roeltje R and H{\"o}rster, Friederike and Staufner, Christian},
  title={Progressive deafness-dystonia due to SERAC1 mutations},
  subtitle={a study of 67 cases},
  year={2017},
  pages={1004-1015},
  language={eng},
  issn={1531-8249},
  volume={82},
  number={6},
  note={Gesehen am 13.07.2018},
  journal={Annals of neurology},
  doi={10.1002/ana.25110},
}
@article{UBHD-69088922,
  author={Niederau, Claus and Regenbogen, Claudia and Fruehauf, Hans-Martin and Merkel, Martin and Ziagaki, Athanasia and Mengel, Eugen and Baerwald, Christoph and Muschol, Nicole and Staufner, Christian and Lampe, Christina and Gillessen, Anton and Koehler, Jan Philipp and Dahl, Stephan vom},
  title={Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic},
  year={2023},
  pages={375-380},
  language={eng},
  issn={1439-7803},
  volume={61},
  number={04 vom: Jan.},
  note={Gesehen am 23.06.2023},
  journal={Zeitschrift f{\"u}r Gastroenterologie},
  doi={10.1055/a-1821-9009},
}
@article{UBHD-67664012,
  author={R{\"u}egger, Corinne M. and Lindner, Martin and K{\"o}lker, Stefan and Staufner, Christian and Burgard, Peter},
  title={Cross-sectional observational study of 208 patients with non-classical urea cycle disorders},
  year={2014},
  pages={21-30},
  language={eng},
  issn={1573-2665},
  volume={37},
  number={1},
  note={Gesehen am 21.08.2014},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-013-9624-0},
}
@article{UBHD-68390439,
  author={Ruiz, Domingo and Staufner, Christian},
  title={AMPA receptor antagonist CFM-2 decreases survivin expression in cancer cells},
  year={2018},
  pages={591-596},
  language={eng},
  issn={1875-5992},
  volume={18},
  number={4},
  note={Gesehen am 16.05.2019},
  journal={Anti-cancer agents in medicinal chemistry},
  doi={10.2174/1871520618666180228123406},
}
@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-68576392,
  author={Staufner, Christian and Lindner, Martin and Straub, Beate Katharina and K{\"o}lker, Stefan and Haas, Dorothea and Hoffmann, Georg F.},
  title={Adenosine kinase deficiency},
  subtitle={expanding the clinical spectrum and evaluating therapeutic options},
  year={2016},
  pages={273-283},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={2},
  note={Published online: 7 December 2015 ; Gesehen am 13.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9904-y},
}
@article{UBHD-68306419,
  author={Staufner, Christian and Sommerburg, Olaf and Holland-Cunz, Stefan},
  title={Algorithm for early diagnosis in nontuberculous mycobacterial lymphadenitis},
  year={2012},
  pages={e382-e385},
  language={eng},
  issn={1651-2227},
  volume={101},
  number={8},
  note={Gesehen am 20.09.2018},
  journal={Acta paediatrica},
  doi={10.1111/j.1651-2227.2012.02702.x},
}
@article{UBHD-68564563,
  author={Staufner, Christian and Leibner, Alexander and Moog, Ute and Diwan, Gaurav and Dikow, Nicola and Russell, Robert B. and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Lenz, Dominic},
  title={Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients},
  year={2020},
  pages={610-621},
  language={eng},
  issn={1530-0366},
  volume={22},
  number={3},
  note={Published online: 25 November 2019 ; Gesehen am 15.04.2020},
  journal={Genetics in medicine},
  doi={10.1038/s41436-019-0698-4},
}
@article{UBHD-68220706,
  author={Staufner, Christian and Feyh, Patrik and Gramer, Gwendolyn and Ediga, Raga and Sauer, Sven and Okun, J{\"u}rgen G. and Fang-Hoffmann, Junmin and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Genetic cause and prevalence of hydroxyprolinemia},
  year={2016},
  pages={625-632},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={5},
  note={Gesehen am 15.02.2018},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-016-9940-2},
}
@book{UBHD-68725258,
  author={Staufner, Christian},
  organization={Universit{\"a}t Heidelberg},
  title={Identifikation und Ph{\"a}notypisierung angeborener Stoffwechselkrankheiten in der {\"A}ra der Exomsequenzierung},
  address={Heidelberg},
  year={2020},
  pages={131 Seiten},
  language={ger},
  note={Publikationsbasierte Habilitationsschrift bestehend aus einem Text und 7 Zeitschriftenaufs{\"a}tzen},
  school={Habilitationsschrift,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2021,  Kumulative Habilitationsschrift},
  library={UB [Signatur: 2021 U 338]},
}
@article{UBHD-68356925,
  author={Staufner, Christian and K{\"o}lker, Stefan and Hoffmann, Georg F. and Harting, Inga},
  title={MRI and 1H-MRS in adenosine kinase deficiency},
  year={2016},
  pages={697-703},
  language={eng},
  issn={1432-1920},
  volume={58},
  number={7},
  note={Gesehen am 11.02.2019 ; Im Titel ist "1" im 1H-MRS hochgestellt},
  journal={Neuroradiology},
  doi={10.1007/s00234-016-1676-z},
}
@article{UBHD-68576374,
  author={Staufner, Christian and Straub, Beate Katharina and K{\"o}lker, Stefan and Thiel, Christian and Dikow, Nicola and Harting, Inga and Beisse, Flemming and Burgard, Peter and Kotzaeridou, Urania and Lenz, Dominic and Hoffmann, Georg F.},
  title={Recurrent acute liver failure due to NBAS deficiency},
  subtitle={phenotypic spectrum, disease mechanisms, and therapeutic concepts},
  year={2016},
  pages={3-16},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={1},
  note={Published online: 5 November 2015 ; Gesehen am 13.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9896-7},
}
@article{UBHD-68802515,
  author={Vavassori, Stefano and Kottke, Raimund and Staufner, Christian and Hildebrandt, Friedhelm and Reu-Hofer, Simone and García Moll, Solange and Weber, Achim and Kaur, Hundeep and Ehl, Stephan and Hiller, Sebastian and Geha, Raif and Roscioli, Tony and Griese, Matthias and Pachlopnik Schmid, Jana},
  title={Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency},
  year={2021},
  pages={381-393},
  language={eng},
  issn={1097-6825},
  volume={148},
  number={2},
  note={Gesehen am 17.11.2021},
  journal={The journal of allergy and clinical immunology},
  doi={10.1016/j.jaci.2021.03.045},
}
@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},
}
@article{UBHD-68323639,
  author={Boy, Nikolas and Heringer-Seifert, Jana and Haege, Gisela and Glahn, Esther M. and Hoffmann, Georg F. and Garbade, Sven and Burgard, Peter and K{\"o}lker, Stefan and Staufner, Christian and Kool, Marcel},
  organization={Workshop for Pediatric Research <52., 2016, Frankfurt am Main>},
  title={Abstracts of the 52nd Workshop for Pediatric Research},
  subtitle={Frankfurt, Germany. 27-28 October 2016},
  year={2017},
  pages={1-9},
  language={eng},
  issn={2194-7791},
  volume={4},
  journal={Molecular and Cellular Pediatrics},
  doi={10.1186/s40348-017-0071-0},
}
@article{UBHD-69009131,
  author={Yépez, Vicente and Gusic, Mirjana and Kopajtich, Robert and Mertes, Christian and Smith, Nicholas H. and Alston, Charlotte L. and Ban, Rui and Beblo, Skadi and Berutti, Riccardo and Blessing, Holger and Ciara, Elzbieta and Distelmaier, Felix and Freisinger, Peter and Haeberle, Johannes and Hayflick, Susan J. and Hempel, Maja and Itkis, Yulia S. and Kishita, Yoshihito and Klopstock, Thomas and Krylova, Tatiana D. and Lamperti, Costanza and Lenz, Dominic and Makowski, Christine and Mosegaard, Signe and Mueller, Michaela F. and Munoz-Pujol, Gerard and Nadel, Agnieszka and Ohtake, Akira and Okazaki, Yasushi and Procopio, Elena and Schwarzmayr, Thomas and Smet, Joel and Staufner, Christian and Stenton, Sarah L. and Strom, Tim M. and Terrile, Caterina and Tort, Frederic and Van Coster, Rudy and Vanlander, Arnaud and Wagner, Matias and Xu, Manting and Fang, Fang and Ghezzi, Daniele and Mayr, Johannes A. and Piekutowska-Abramczuk, Dorota and Ribes, Antonia and Roetig, Agnes and Taylor, Robert W. and Wortmann, Saskia B. and Murayama, Kei and Meitinger, Thomas and Gagneur, Julien and Prokisch, Holger},
  title={Clinical implementation of RNA sequencing for Mendelian disease diagnostics},
  year={2022},
  pages={1-16},
  language={eng},
  issn={1756-994X},
  volume={14},
  number={Artikel-ID 38},
  note={Published 05 April 2022 ; Gesehen am 23.01.2023},
  journal={Genome medicine},
  doi={10.1186/s13073-022-01019-9},
}
@article{UBHD-68724054,
  author={Zech, Michael and Wolf, Marc and Assmann, Birgit and Staufner, Christian and Opladen, Thomas},
  title={Monogenic variants in dystonia},
  subtitle={an exome-wide sequencing study},
  year={2020},
  pages={908-918},
  language={eng},
  issn={1474-4465},
  volume={19},
  number={11},
  note={Gesehen am 15.04.2021},
  journal={The lancet},
  doi={10.1016/S1474-4422(20)30312-4},
}
@article{UBHD-68906358,
  author={Zellos, Aglaia and Debray, Dominique and Indolfi, Giuseppe and Czubkowski, Piotr and Samyn, Marianne and Hadzic, Nedim and Gupte, Girish and Fischler, Bj{\"o}rn and Smets, Françoise and Clément de Cléty, Stéphan and Grenda, Ryszard and Mozer, Yael and Mancell, Sara and Jahnel, J{\"o}rg and Auzinger, Georg and Worth, Austen and Lisman, Ton and Staufner, Christian and Baumann, Ulrich and Dhawan, Anil and Alonso, Estelle and Squires, Robert H. and Verkade, Henkjan J.},
  title={Proceedings of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition monothematic conference, 2020: "Acute liver failure in children"},
  subtitle={treatment and directions for future research},
  year={2022},
  pages={338-347},
  language={eng},
  issn={1536-4801},
  volume={74},
  number={3},
  note={Date: Oct 28, 2021 ; Gesehen am 12.04.2022},
  journal={Journal of pediatric gastroenterology and nutrition},
  doi={10.1097/MPG.0000000000003345},
}
@article{UBHD-68906363,
  author={Zellos, Aglaia and Debray, Dominique and Indolfi, Giuseppe and Czubkowski, Piotr and Samyn, Marianne and Hadzic, Nedim and Gupte, Girish and Fischler, Bj{\"o}rn and Smets, Françoise and de Cléty, Stéphan Clément and Grenda, Ryszard and Mozer, Yael and Mancell, Sara and Jahnel, J{\"o}rg and Auzinger, Georg and Worth, Austen and Lisman, Ton and Staufner, Christian and Baumann, Ulrich and Dhawan, Anil and Alonso, Estelle and Squires, Robert H. and Verkade, Henkjan J.},
  title={Proceedings of ESPGHAN monothematic conference 2020: "Acute liver failure in children"},
  subtitle={diagnosis and initial management},
  year={2022},
  pages={e45-e56},
  language={eng},
  issn={1536-4801},
  volume={74},
  number={3},
  note={Date: Oct 29, 2021 ; Gesehen am 12.04.2022},
  journal={Journal of pediatric gastroenterology and nutrition},
  doi={10.1097/MPG.0000000000003341},
}