@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-68412618,
  author={Cousin, Margot and Conboy, Erin and Wang, Jian-She and Lenz, Dominic and Schwab, Tanya L. and Williams, Monique and Abraham, Roshini S. and Barnett, Sarah and El-Youssef, Mounif and Graham, Rondell P. and Gutierrez Sanchez, Luz Helena and Hasadsri, Linda and Hoffmann, Georg F. and Hull, Nathan C. and Kopajtich, Robert and Kovacs-Nagy, Reka and Li, Jia-qi and Marx-Berger, Daniela and McLin, Valérie and McNiven, Mark A. and Mounajjed, Taofic and Prokisch, Holger and Rymen, Daisy and Schulze, Ryan J. and Staufner, Christian and Yang, Ye and Clark, Karl J. and Lanpher, Brendan C. and Klee, Eric W.},
  title={RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities},
  year={2019},
  pages={108-121},
  language={eng},
  issn={1537-6605},
  volume={105},
  number={1},
  note={Gesehen am 26.07.2019},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2019.05.011},
}
@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-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-69294322,
  author={Hammann, Nicole Irene and Lenz, Dominic and Bianzano, Alyssa and Husain, Ralf A. and Forman, Eva and Bernstein, Jonathan A. and Dattner, Tal and Engelen, Marc and Hanson-Kahn, Andrea K. and Isidor, Bertrand and Kotzaeridou, Urania and Tietze, Anna and Trollmann, Regina and Weiß, Claudia and Wolffenbuttel, Bruce H. R. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Crushell, Ellen and Staufner, Christian and Mohr, Alexander and Harting, Inga},
  title={MRI in LARS1 deficiency},
  subtitle={spectrum, patterns, and correlation with acute neurological deterioration},
  year={2024},
  pages={1028-1046},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={5},
  note={Ver{\"o}ffentlicht: 01 July 2024 ; Gesehen am 27.01.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12764},
}
@incollection{UBHD-68910575,
  author={Johann, Pascal-David and Lenz, Dominic and Ries, Markus},
  title={“The drug development pipeline for glioblastoma},
  subtitle={a cross sectional assessment of the FDA Orphan Drug Product designation database”},
  year={2021},
  pages={1-21},
  language={eng},
  note={Gesehen am 25.04.2022},
  booktitle={medRxiv},
  doi={10.1101/2021.01.01.21249120},
}
@article{UBHD-68757628,
  author={Johann, Pascal-David and Lenz, Dominic and Ries, Markus},
  title={The drug development pipeline for glioblastoma},
  subtitle={a cross sectional assessment of the FDA Orphan Drug Product designation database},
  year={2021},
  pages={1-14},
  language={eng},
  issn={1932-6203},
  volume={16},
  note={Gesehen am 08.07.2021},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0252924},
}
@article{UBHD-69290968,
  author={Kirchberg, Ina and Lainka, Elke and Gangfuß, Andrea and Kuechler, Alma and Baertling, Fabian and Schlieben, Lea D. and Lenz, Dominic and Tschiedel, Eva},
  title={Distinct neonatal hyperammonemia and liver synthesis dysfunction},
  subtitle={case report of a severe MEGDHEL syndrome},
  year={2024},
  pages={1278047-1-1278047-5},
  language={eng},
  issn={2296-2360},
  volume={12},
  number={Artikel-ID 1278047},
  note={Online ver{\"o}ffentlicht: 20 Februar 2024 ; Gesehen am 15.01.2025},
  journal={Frontiers in Pediatrics},
  doi={10.3389/fped.2024.1278047},
}
@article{UBHD-68939284,
  author={Kleine, Ruben H. de and Lexmond, Willem S. and Buescher, Gustav and Sturm, Ekkehard and Kelly, Deidre and Lohse, Ansgar W. and Lenz, Dominic and Jørgensen, Marianne Hørby},
  title={Severe acute hepatitis and acute liver failure of unknown origin in children},
  subtitle={a questionnaire-based study within 34 paediatric liver centres in 22 European countries and Israel, April 2022},
  year={2022},
  pages={1-7},
  language={eng},
  issn={1560-7917},
  volume={27},
  note={Article published on 12 May 2022 ; Gesehen am 08.07.2022},
  journal={Eurosurveillance},
  doi={10.2807/1560-7917.ES.2022.27.19.2200369},
}
@book{UBHD-69105898,
  author={Lenz, Dominic},
  title={Bewertung der Leuchtdioden-Fluoreszenz-Mikroskopie im Vergleich zu konventioneller Fluoreszenz-Mikroskopie, Lichtmikroskopie und Polymerase-Kettenreaktion zur Diagnose von Plasmodium falciparum-Infektionen in Gabun},
  year={2014},
  pages={Online-Ressource (95 S.)},
  language={ger},
  school={T{\"u}bingen, Univ., Diss., 2014},
  keywords={Diagnostik / Sensitivit{\"a}t / Fluoreszenz / Spezifit{\"a}t / Malaria / Plasmodium / Plasmodium falciparum / Gabun},
}
@book{UBHD-69105932,
  author={Lenz, Dominic},
  title={Bewertung der Leuchtdioden-Fluoreszenz-Mikroskopie im Vergleich zu konventioneller Fluoreszenz-Mikroskopie, Lichtmikroskopie und Polymerase-Kettenreaktion zur Diagnose von Plasmodium falciparum-Infektionen in Gabun},
  year={2014},
  pages={95 S.},
  language={ger},
  school={T{\"u}bingen, Univ., Diss., 2014},
  keywords={Diagnostik / Sensitivit{\"a}t / Fluoreszenz / Spezifit{\"a}t / Malaria / Plasmodium / Plasmodium falciparum / Gabun},
}
@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-68373861,
  author={Lenz, Dominic and Staufner, Christian and W{\"a}chter, Selina and G{\"o}hring, Gudrun and K{\"o}lker, Stefan and Hoffmann, Georg F. and Jung-Klawitter, Sabine},
  title={Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS},
  subtitle={DHMCi004-A},
  year={2019},
  pages={4 S.},
  language={eng},
  issn={1876-7753},
  volume={35(2019) Artikel-Nummer 101398},
  number={4 Seiten},
  note={Gesehen am 28.03.2019},
  journal={Stem cell research},
  doi={10.1016/j.scr.2019.101398},
  url={https://doi.org/10.1016/j.scr.2019.101398},
  library={UB},
}
@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 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},
}
@book{UBHD-69103471,
  author={Lenz, Dominic},
  organization={Universit{\"a}t Heidelberg},
  title={Leberversagen im Kindesalter},
  subtitle={Ursachen und Pathophysiologie},
  address={Heidelberg},
  year={2022},
  pages={1 Band (verschiedene Seitenz{\"a}hlungen)},
  language={ger and eng},
  note={Publikationsbasierte Habilitationsschrift bestehend aus einem Text und 7 Zeitschriftenaufs{\"a}tzen},
  school={Habilitationsschrift,  Ruprecht-Karls-Universit{\"a}t Heidelberg,  2023,  Kumulative Habilitationsschrift},
  library={UB [Signatur: 2023 U 650]},
}
@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 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-68022864,
  author={Lenz, Dominic},
  title={Primary cutaneous cryptococcosis in an eight-year-old immunocompetent child},
  subtitle={how to treat?},
  year={2015},
  pages={41-44},
  language={eng and ger},
  issn={1439-3824},
  volume={227},
  number={1},
  note={Gesehen am: 30.08.2016 ; Zusammenfassung und Titel in deutscher {\"U}bersetzung},
  journal={Klinische P{\"a}diatrie},
  doi={10.1055/s-0034-1387775},
}
@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-69007656,
  author={Lurz, Eberhard and Lenz, Dominic and Bufler, Philip and Fichtner, Alexander and Henning, Stephan and Jankofsky, Martin and Kathemann, Simone and Melter, Michael and Oh, Jun and Pfister, Eva Doreen and Sturm, Ekkehard and Knoppke, Birgit and Lainka, Elke},
  title={The recent outbreak of acute severe hepatitis in children of unknown origin - what is known so far},
  year={2022},
  pages={1214-1215},
  language={eng},
  issn={1600-0641},
  volume={77},
  number={4},
  note={Gesehen am 18.01.2023},
  journal={Journal of hepatology},
  doi={10.1016/j.jhep.2022.05.039},
}
@article{UBHD-68807804,
  author={M{\"a}rtner, E.M. Charlotte and Maier, Esther M. and Mengler, Katharina and Thimm, Eva and Schiergens, Katharina A. and Marquardt, Thorsten and Santer, René and Weinhold, Natalie and Marquardt, Iris and Das, Anibh M. and Freisinger, Peter and Gr{\"u}nert, Sarah C. and Vossbeck, Judith and Steinfeld, Robert and Baumgartner, Matthias R. and Beblo, Skadi and Dieckmann, Andrea and N{\"a}ke, Andrea and Lindner, Martin and Heringer-Seifert, Jana and Lenz, Dominic and Hoffmann, Georg F. and M{\"u}hlhausen, Chris and Ensenauer, Regina and Garbade, Sven and K{\"o}lker, Stefan and Boy, Nikolas},
  title={Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1},
  subtitle={a national prospective multi-centre study},
  year={2021},
  pages={629-638},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={3},
  note={First published: 03 December 2020 ; Gesehen am 03.12.2021},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12335},
  url={https://doi.org/10.1002/jimd.12335},
  library={UB},
}
@article{UBHD-69057043,
  author={Mann, Jake P. and Lenz, Dominic and Stamataki, Zania and Kelly, Deirdre},
  title={Common mechanisms in pediatric acute liver failure},
  year={2023},
  pages={228-240},
  language={eng},
  issn={1471-499X},
  volume={29},
  number={3},
  note={Online verf{\"u}gbar 7 Dezember 2022, Artikelversion 15 Februar 2023 ; Gesehen am 28.03.2023},
  journal={Trends in molecular medicine},
  doi={10.1016/j.molmed.2022.11.006},
}
@article{UBHD-69272869,
  author={Peters, Bianca and Dattner, Tal and Schlieben, Lea D. and Sun, Tian and Staufner, Christian and Lenz, Dominic},
  title={Disorders of vesicular trafficking presenting with recurrent acute liver failure},
  subtitle={NBAS, RINT1, and SCYL1 deficiency},
  year={2024},
  pages={1-13},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Gesehen am 12.11.2024 ; Online ver{\"o}ffentlicht: 27 January 2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12707},
}
@article{UBHD-69227553,
  author={Reischl-Hajiabadi, Anna Theresa and Schnabel-Besson, Elena and Gleich, Florian and Mengler, Katharina and Lindner, Martin and Burgard, Peter and Posset, Roland and Lommer-Steinhoff, Svenja and Gr{\"u}nert, Sarah and Thimm, Eva and Freisinger, Peter and Hennermann, Julia B. and Kr{\"a}mer, Johannes and Gramer, Gwendolyn and Lenz, Dominic and Christ, Stine and H{\"o}rster, Friederike and Hoffmann, Georg F. and Garbade, Sven and K{\"o}lker, Stefan and M{\"u}tze, Ulrike},
  title={Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias},
  year={2024},
  pages={674-689},
  language={eng},
  issn={1573-2665},
  volume={47},
  number={4 vom: Juli},
  note={Erstmals ver{\"o}ffentlicht: 02 April 2024 ; Gesehen am 01.07.2024},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12731},
}
@article{UBHD-68867300,
  author={Richard, Elodie M. and Bakhtiari, Somayeh and Marsh, Ashley P. L. and Kaiyrzhanov, Rauan and Wagner, Matias and Shetty, Sheetal and Pagnozzi, Alex and Nordlie, Sandra M. and Guida, Brandon S. and Cornejo, Patricia and Magee, Helen and Liu, James and Norton, Bethany Y. and Webster, Richard I. and Worgan, Lisa and Hakonarson, Hakon and Li, Jiankang and Guo, Yiran and Jain, Mahim and Blesson, Alyssa and Rodan, Lance H. and Abbott, Mary-Alice and Comi, Anne and Cohen, Julie S. and Alhaddad, Bader and Meitinger, Thomas and Lenz, Dominic and Ziegler, Andreas and Kotzaeridou, Urania and Brunet, Theresa and Chassevent, Anna and Smith-Hicks, Constance and Ekstein, Joseph and Weiden, Tzvi and Hahn, Andreas and Zharkinbekova, Nazira and Turnpenny, Peter and Tucci, Arianna and Yelton, Melissa and Horvath, Rita and Gungor, Serdal and Hiz, Semra and Oktay, Yavuz and Lochmuller, Hanns and Zollino, Marcella and Morleo, Manuela and Marangi, Giuseppe and Nigro, Vincenzo and Torella, Annalaura and Pinelli, Michele and Amenta, Simona and Husain, Ralf A. and Grossmann, Benita and Rapp, Marion and Steen, Claudia and Marquardt, Iris and Grimmel, Mona and Grasshoff, Ute and Korenke, Christoph and Owczarek-Lipska, Marta and Neidhardt, John and Radio, Francesca Clementina and Mancini, Cecilia and Claps Sepulveda, Dianela Judith and McWalter, Kirsty and Begtrup, Amber and Crunk, Amy and Guillen Sacoto, Maria J. and Person, Richard and Schnur, Rhonda E. and Mancardi, Maria Margherita and Kreuder, Florian and Striano, Pasquale and Zara, Federico and Chung, Wendy K. and Marks, Warren A. and van Eyk, Clare L. and Webber, Dani L. and Corbett, Mark A. and Harper, Kelly and Berry, Jesia G. and MacLennan, Alastair H. and Gecz, Jozef and Tartaglia, Marco and Salpietro, Vincenzo and Christodoulou, John and Kaslin, Jan and Padilla-Lopez, Sergio and Bilguvar, Kaya and Munchau, Alexander and Ahmed, Zubair M. and Hufnagel, Robert B. and Fahey, Michael C. and Maroofian, Reza and Houlden, Henry and Sticht, Heinrich and Mane, Shrikant M. and Rad, Aboulfazl and Vona, Barbara and Jin, Sheng Chih and Haack, Tobias B. and Makowski, Christine and Hirsch, Yoel and Riazuddin, Saima and Kruer, Michael C.},
  title={Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss},
  year={2021},
  pages={2006-2016},
  language={eng},
  issn={1537-6605},
  volume={108},
  number={10},
  note={Gesehen am 17.01.2022},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2021.08.003},
}
@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-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-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-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-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},
}