@article{UBHD-68666339,
  author={Blattmann, Peter Nils and Schuberth, Christian and Pepperkok, Rainer and Runz, Heiko},
  title={RNAi-based functional profiling of loci from blood lipid genome-wide association studies identifies genes with cholesterol-regulatory function},
  year={2013},
  language={eng},
  issn={1553-7404},
  volume={(2020},
  note={Gesehen am 27.11.2020},
  journal={PLoS Genetics},
  doi={10.1371/journal.pgen.1003338},
}
@article{UBHD-68311600,
  author={Connemann, Bernhard J. and Runz, Heiko},
  title={Low ceruloplasmin in a patient with Niemann-Pick Type C disease},
  year={2012},
  pages={620-621},
  language={eng},
  issn={1532-2653},
  volume={19},
  number={4},
  note={Available online 23 January 2012 ; Gesehen am 04.10.2018},
  journal={Journal of clinical neuroscience},
  doi={10.1016/j.jocn.2011.05.038},
}
@article{UBHD-68384297,
  author={Domschke, Gabriele and Linden, Fabian and Hafner, Anna and Akhavanpoor, Mohammadreza and Reymann, J{\"u}rgen and D{\"o}sch, Andreas and Erbel, Christian and Weber, Christian and Katus, Hugo and Erfle, Holger and Gleißner, Christian A. and Runz, Heiko},
  title={Systematic RNA-interference in primary human monocyte-derived macrophages},
  subtitle={A high-throughput platform to study foam cell formation},
  year={2018},
  pages={1-11},
  language={eng},
  issn={2045-2322},
  volume={8},
  number={Artikel-ID 10516},
  note={Gesehen am 03.05.2019},
  journal={Scientific reports},
  doi={10.1038/s41598-018-28790-3},
}
@article{UBHD-68033855,
  author={Ebrahimi-Fakhari, Darius and Maas, Bianca and Hinderhofer, Katrin and Assmann, Birgit and Runz, Heiko},
  title={Disruption of SOX6 is associated with a rapid-onset dopa-responsive movement disorder, delayed development, and dysmorphic features : clinical observations},
  year={2015},
  pages={115-118},
  language={eng},
  issn={1873-5150},
  volume={52},
  number={1},
  note={Available online 17 September 2014 ; Gesehen am 29.09.2015},
  journal={Pediatric neurology},
  doi={10.1016/j.pediatrneurol.2014.08.021},
}
@article{UBHD-68572631,
  author={Ebrahimi-Fakhari, Darius and Wahlster, Lara and Bartz, Fabian and Werenbeck-Ueding, Jennifer and Praggastis, Maria and Zhang, Jessie and Joggerst-Thomalla, Brigitte and Theiß, Susanne and Grimm, Dirk and Ory, Daniel S. and Runz, Heiko},
  title={Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells},
  year={2016},
  pages={3588-3599},
  language={eng},
  issn={1460-2083},
  volume={25},
  number={16},
  note={Gesehen am 04.05.2020},
  journal={Human molecular genetics},
  doi={10.1093/hmg/ddw204},
}
@article{UBHD-68686910,
  author={Ellinghaus, David and Gotthardt, Daniel and Runz, Heiko and Rupp, Christian},
  title={Genome-wide association analysis in primary sclerosing cholangitis and ulcerative colitis identifies risk loci at GPR35 and TCF4},
  year={2013},
  pages={1074-1083},
  language={eng},
  issn={1527-3350},
  volume={58},
  number={3},
  note={First published: 23 July 2012 ; Gesehen am 01.02.2021},
  journal={Hepatology},
  doi={10.1002/hep.25977},
}
@article{UBHD-68718644,
  author={Faßbender, Klaus and Simons, M. and Bergmann, Carina and Stroick, Mark Gregor and L{\"u}tjohann, D. and Keller, P. and Runz, Heiko and K{\"u}hl, Sandra and Bertsch, Thomas and Bergmann, K. von and Hennerici, Michael G. and Beyreuther, Konrad and Hartmann, Tobias},
  title={Simvastatin strongly reduces levels of Alzheimer's disease β-amyloid peptides Aβ42 and Aβ40 in vitro and in vivo},
  year={2001},
  pages={5856-5861},
  language={eng},
  issn={1091-6490},
  volume={98},
  number={10 vom: Mai},
  note={Gesehen am 31.03.2021},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  doi={10.1073/pnas.081620098},
}
@article{UBHD-68241454,
  author={Folseraas, Trine and Gotthardt, Daniel and Runz, Heiko},
  title={Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci},
  year={2012},
  pages={366-375},
  language={eng},
  issn={1600-0641},
  volume={57},
  number={2},
  note={Gesehen am 10.04.2018},
  journal={Journal of hepatology},
  doi={10.1016/j.jhep.2012.03.031},
}
@article{UBHD-68745155,
  author={Friedrich, Kilian and Rupp, Christian and Hov, Johannes Roksund and Steinebrunner, Niels and Weiss, Karl Heinz and Stiehl, Adolf and Brune, Maik and Kloeters, Yvonne and Schaefer, Petra and Schemmer, Peter and Sauer, Peter and Schirmacher, Peter and Runz, Heiko and Karlsen, Tom Hemming and Stremmel, Wolfgang and Gotthardt, Daniel},
  title={A frequent PNPLA3 variant is a sex specific disease modifier in PSC patients with bile duct stenosis},
  year={2013},
  pages={1-7},
  language={eng},
  issn={1932-6203},
  volume={8},
  note={Gesehen am 07.06.2021},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0058734},
}
@article{UBHD-68747886,
  author={Fr{\"u}hmesser, Anne and Blake, Jonathon and Haberlandt, Edda and Baying, Bianka and Raeder, Benjamin and Runz, Heiko and Spreiz, Ana and Fauth, Christine and Benes, Vladimir and Utermann, Gerd and Zschocke, Johannes and Kotzot, Dieter},
  title={Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation},
  year={2013},
  pages={1177-1180},
  language={eng},
  issn={1476-5438},
  volume={21},
  number={10},
  note={Gesehen am 14.06.2021},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2013.18},
}
@article{UBHD-68260393,
  author={Herzog, Andreas and Runz, Heiko},
  title={A cross-sectional single-centre study on the spectrum of Pompe disease, German patients},
  subtitle={molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations},
  year={2012},
  language={eng},
  issn={1750-1172},
  volume={7},
  note={Gesehen am 12.06.2018},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/1750-1172-7-35},
}
@article{UBHD-69067623,
  author={Hov, Johannes R. and Keitel, Verena and Laerdahl, Jon K. and Spomer, Lina and Ellinghaus, Eva and ElSharawy, Abdou and Melum, Espen and Boberg, Kirsten M. and Manke, Thomas and Balschun, Tobias and Schramm, Christoph and Bergquist, Annika and Weism{\"u}ller, Tobias and Gotthardt, Daniel and Rust, Christian and Henckaerts, Liesbet and Onnie, Clive M. and Weersma, Rinse K. and Sterneck, Martina and Teufel, Andreas and Runz, Heiko and Stiehl, Adolf and Ponsioen, Cyriel Y. and Wijmenga, Cisca and Vatn, Morten H. and Stokkers, Pieter C. F. and Vermeire, Severine and Mathew, Christopher G. and Lie, Benedicte A. and Beuers, Ulrich and Manns, Michael P. and Schreiber, Stefan and Schrumpf, Erik and H{\"a}ussinger, Dieter and Franke, Andre and Karlsen, Tom H.},
  title={Mutational characterization of the bile acid receptor TGR5 in primary sclerosing cholangitis},
  year={2010},
  pages={1-13},
  language={eng},
  issn={1932-6203},
  volume={5},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0012403},
}
@article{UBHD-68713704,
  author={ ̇Iskar, Murat and Zeller, Georg F. and Blattmann, Peter Nils and Campillos, Monica and Kuhn, Michael and Kaminska, Katarzyna H. and Runz, Heiko and Gavin, Anne-Claude and Pepperkok, Rainer and Noort, Vera van and Bork, Peer},
  title={Characterization of drug-induced transcriptional modules},
  subtitle={towards drug repositioning and functional understanding},
  year={2013},
  pages={1-13},
  language={eng},
  issn={1744-4292},
  volume={9},
  number={Artikel-ID 662},
  note={Gesehen am 17.03.2021},
  journal={Molecular systems biology},
  doi={10.1038/msb.2013.20},
}
@article{UBHD-68573893,
  author={Jiang, Xuntian and Sidhu, Rohini and Mydock-McGrane, Laurel and Hsu, Fong-Fu and Covey, Douglas F. and Scherrer, David E. and Earley, Brian and Gale, Sarah E. and Farhat, Nicole Y. and Porter, Forbes D. and Dietzen, Dennis J. and Orsini, Joseph J. and Berry-Kravis, Elizabeth and Zhang, Xiaokui and Reunert, Janice and Marquardt, Thorsten and Runz, Heiko and Giugliani, Roberto and Schaffer, Jean E. and Ory, Daniel S.},
  title={Development of a bile acid-based newborn screen for Niemann-Pick disease type C},
  year={2016},
  pages={10 S.},
  language={eng},
  issn={1946-6242},
  volume={8(2016},
  note={Gesehen am 06.05.2020},
  journal={Science translational medicine},
  doi={10.1126/scitranslmed.aaf2326},
}
@article{UBHD-69046897,
  author={Karlsen, Tom H. and Franke, Andre and Melum, Espen and Kaser, Arthur and Hov, Johannes Roksund and Balschun, Tobias and Lie, Benedicte A. and Bergquist, Annika and Schramm, Christoph and Weism{\"u}ller, Tobias J. and Gotthardt, Daniel and Rust, Christian and Philipp, Eva E. R. and Fritz, Teresa and Henckaerts, Liesbet and Weersma, Rinse K. and Stokkers, Pieter and Ponsioen, Cyriel Y. and Wijmenga, Cisca and Sterneck, Martina and Nothnagel, Michael and Hampe, Jochen and Teufel, Andreas and Runz, Heiko and Rosenstiel, Philip and Stiehl, Adolf and Vermeire, Severine and Beuers, Ulrich and Manns, Michael P. and Schrumpf, Erik and Boberg, Kirsten Muri and Schreiber, Stefan},
  title={Genome-wide association analysis in primary sclerosing cholangitis},
  year={2010},
  pages={1102-1111},
  language={eng},
  issn={1528-0012},
  volume={138},
  number={3 vom: M{\"a}rz},
  note={Online ver{\"o}ffentlicht am 26. November 2009 ; Gesehen am 02.03.2023},
  journal={Gastroenterology},
  doi={10.1053/j.gastro.2009.11.046},
}
@article{UBHD-68637648,
  author={Medina, Marisa W. and Bauzon, Frederick and Naidoo, Devesh and Theusch, Elizabeth and Stevens, Kristen and Schilde, Jessica and Schubert, Christian and Mangravite, Lara M. and Rudel, Lawrence L. and Temel, Ryan E. and Runz, Heiko and Krauss, Ronald M.},
  title={Transmembrane protein 55B is a novel regulator of cellular cholesterol metabolism},
  year={2014},
  pages={1917-1923},
  language={eng},
  issn={1524-4636 and 2330-9180 and 2330-9199},
  volume={34},
  number={9},
  note={Gesehen am 16.09.2020},
  journal={Arteriosclerosis, thrombosis, and vascular biology},
  doi={10.1161/ATVBAHA.113.302806},
}
@article{UBHD-68333902,
  author={Mengel, Eugen and Ebinger, Friedrich and Runz, Heiko},
  title={Morbus Niemann-Pick Typ C},
  subtitle={Klinik, Diagnostik und Therapie},
  year={2012},
  pages={47-54},
  language={ger},
  issn={1433-0474},
  volume={160},
  number={1},
  note={First online 23 December 2011 ; Gesehen am 29.11.2018},
  journal={Monatsschrift Kinderheilkunde},
  doi={10.1007/s00112-011-2532-1},
}
@article{UBHD-69074271,
  author={Rauschenberger, Katharina and Sch{\"o}ler, Katja and Sass, J{\"o}rn Oliver and Sauer, Sven and Djuric, Zdenka and Rumig, Cordula and Wolf, Nicole I. and Okun, J{\"u}rgen G. and K{\"o}lker, Stefan and Schwarz, Heinz and Fischer, Christine and Grziwa, Beate and Runz, Heiko and N{\"u}mann, Astrid and Shafqat, Naeem and Kavanagh, Kathryn L. and H{\"a}mmerling, G{\"u}nter J. and Wanders, Ronald J. A. and Shield, Julian P. H. and Wendel, Udo and Stern, David and Nawroth, Peter Paul and Hoffmann, Georg F. and Bartram, Claus R. and Arnold, Bernd and Bierhaus, Angelika and Oppermann, Udo and Steinbeisser, Herbert and Zschocke, Johannes},
  title={A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival},
  year={2010},
  pages={51-62},
  language={eng},
  issn={1757-4684},
  volume={2},
  number={2 vom: Feb.},
  note={Gesehen am 10.05.2023},
  journal={EMBO molecular medicine},
  doi={10.1002/emmm.200900055},
}
@book{UBHD-65963363,
  author={Runz, Heiko},
  title={Einfluss der subzellul{\"a}ren Verteilung von Cholesterin auf die Prozessierung des Alzheimer Amyloid-Vorl{\"a}uferproteins},
  year={2005},
  pages={Getr. Z{\"a}hlung},
  language={ger and eng},
  note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze. - Text teilw. dt., teilw. engl},
  school={Heidelberg, Univ., Diss., 2005},
  library={UB [Signatur: 2005 U 492]},
}
@article{UBHD-69088921,
  author={Runz, Heiko and Fischer, Christine},
  title={Einf{\"u}hrung zum Schwerpunktthema Datenbanken},
  year={2010},
  pages={209-212},
  language={eng},
  issn={1863-5490},
  volume={22},
  number={2},
  note={Gesehen am 23.06.2023},
  journal={Medizinische Genetik},
  doi={10.1007/s11825-010-0224-1},
}
@book{UBHD-67197347,
  author={Runz, Heiko},
  title={Identifizierung und Charakterisierung molekularer Mechanismen zur Regulation des zellul{\"a}ren Cholesterinhaushalts},
  year={2011},
  pages={Getr. Z{\"a}hlung},
  language={ger},
  note={Enth{\"a}lt Zeitschriftenaufs{\"a}tze},
  school={Heidelberg, Univ., Habil.-Schr., 2011},
  library={UB [Signatur: 2012 U 247]},
}
@article{UBHD-68252264,
  author={Runz, Heiko},
  title={Integrated approaches to functionally characterize novel factors in lipoprotein metabolism},
  year={2012},
  pages={104-110},
  language={eng},
  issn={1473-6535},
  volume={23},
  number={2},
  note={Gesehen am 15.05.2018},
  journal={Current opinion in lipidology},
  doi={10.1097/MOL.0b013e328350fc3d},
}
@article{UBHD-68874741,
  author={Runz, Heiko},
  title={Lipids},
  subtitle={new biology and therapeutic targets revealed through human genetics},
  year={2013},
  pages={295-298},
  language={eng},
  issn={1758-4302},
  volume={8},
  number={3},
  note={Published online: 18 Jan 2017 ; Gesehen am 07.02.2022},
  journal={Clinical lipidology},
  doi={10.2217/clp.13.22},
}
@article{UBHD-68261262,
  author={Schwerd, Tobias and Runz, Heiko},
  title={Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann-Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease},
  year={2017},
  pages={1060-1073},
  language={eng},
  issn={1468-3288},
  volume={66},
  number={6},
  note={Published online first 7 March 2016 ; Gesehen am 14.06.2018},
  journal={Gut},
  doi={10.1136/gutjnl-2015-310382},
}
@article{UBHD-68878318,
  author={Stampfer, Miriam and Theiß, Susanne and Amraoui, Yasmina and Jiang, Xuntian and Keller, Sigrid and Ory, Daniel S. and Mengel, Eugen and Fischer, Christine and Runz, Heiko},
  title={Niemann-Pick disease type C clinical database},
  subtitle={cognitive and coordination deficits are early disease indicators},
  year={2013},
  pages={1-11},
  language={eng},
  issn={1750-1172},
  volume={8},
  number={Artikel-ID 35},
  note={Gesehen am 15.02.2022},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/1750-1172-8-35},
}
@article{UBHD-69117949,
  author={Strauss, Katrin and Goebel, Cornelia and Runz, Heiko and M{\"o}bius, Wiebke and Weiss, Sievert and Feussner, Ivo and Simons, Mikael and Schneider, Anja},
  title={Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease},
  year={2010},
  pages={26279-26288},
  language={eng},
  issn={1083-351X},
  volume={285},
  number={34},
  note={Gesehen am 01.09.2023},
  journal={The journal of biological chemistry},
  doi={10.1074/jbc.M110.134775},
}
@article{UBHD-68871347,
  author={S{\"u}rmeli Onay, {\"O}zge and Yakarisik, Selin and Korkmaz, Ayse and Akcoren, Zuhal and Yuce, Aysel and Runz, Heiko and Stampfer, Miriam and Yurdakok, Murat},
  title={Prenatal-onset Niemann-Pick type C disease with nonimmune hydrops fetalis},
  year={2013},
  pages={344-347},
  language={eng},
  issn={2212-1692},
  volume={54},
  number={5},
  note={Gesehen am 27.01.2022},
  journal={Pediatrics and neonatology},
  doi={10.1016/j.pedneo.2013.01.015},
}
@article{UBHD-68976612,
  author={T{\"a}ngemo, Carolina and Weber, Dominik and Theiß, Susanne and Mengel, Eugen and Runz, Heiko},
  title={Niemann-Pick Type C disease},
  subtitle={characterizing lipid levels in patients with variant lysosomal cholesterol storage},
  year={2011},
  pages={813-825},
  language={eng},
  issn={1539-7262},
  volume={52},
  number={4 vom: Apr.},
  note={Gesehen am 20.10.2022},
  journal={Journal of lipid research},
  doi={10.1194/jlr.P013524},
}
@incollection{UBHD-68321220,
  author={Thorm{\"a}len, Aenne Solvejg and Runz, Heiko},
  title={Systematic cell-based phenotyping of missense alleles},
  year={2017},
  pages={215-228},
  language={eng},
  isbn={978-1-4939-6960-9},
  note={Gesehen am 25.10.2018},
  booktitle={Cell Viability Assays},
  editor={Gilbert, Daniel F. and Friedrich, Oliver},
  doi={10.1007/978-1-4939-6960-9_17},
}
@article{UBHD-68606884,
  author={Thorm{\"a}len, Aenne Solvejg and Schuberth, Christian and Blattmann, Peter Nils and Joggerst-Thomalla, Brigitte and Theiß, Susanne and Pepperkok, Rainer and Runz, Heiko},
  title={Systematic cell-based phenotyping of missense alleles empowers rare variant association studies},
  subtitle={a case for LDLR and myocardial infarction},
  year={2015},
  pages={23 S.},
  language={eng},
  issn={1553-7404},
  volume={11(2015},
  note={Gesehen am 02.07.2020},
  journal={PLoS Genetics},
  doi={10.1371/journal.pgen.1004855},
}
@article{UBHD-69131800,
  author={Weiss, Karl Heinz and Runz, Heiko and Noe, Barbara and Gotthardt, Daniel and Merle, Uta and Ferenci, Peter and Stremmel, Wolfgang and F{\"u}llekrug, Joachim},
  title={Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease},
  year={2010},
  pages={233-240},
  language={eng},
  issn={1573-2665},
  volume={33},
  number={S3 vom: Dez.},
  note={Gesehen am 19.10.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-010-9123-5},
}