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Prof. Dr. rer. nat. Bernhard Horsthemke

Institut für Humangenetik am Universitätsklinikum Essen
Anschrift
Hufelandstraße 55
45122 Essen
Telefon
0201/7234560
Telefax
0201/7235900
E-Mail
bernhard.horsthemke@uni-due.de
Webseite
http://www.uk-essen.de/humangenetik/

Funktionen

  • Direktor, Institut für Humangenetik

Die folgenden Publikationen sind in der Online-Universitätsbibliographie der Universität Duisburg-Essen verzeichnet. Weitere Informationen finden Sie gegebenenfalls auch auf den persönlichen Webseiten der Person.

    Artikel in Zeitschriften

  • Kühnel, Theresa; Heinz, Helena Sophie Barbara; Utz, Nadja; Božić, Tanja; Horsthemke, Bernhard; Steenpass, Laura
    A human somatic cell culture system for modelling gene silencing by transcriptional interference
    In: Heliyon Jg. 6 (2020) Nr. 1, S. e03261
    ISSN: 2405-8440
    Online Volltext: dx.doi.org/
  • Petri, Theresa; Dankert, Debora; Demond, Hannah; Wennemuth, Gunther; Horsthemke, Bernhard; Grümmer, Ruth
    In vitro postovulatory oocyte aging affects H3K9 trimethylation in two-cell embryos after IVF
    In: Annals of Anatomy: official organ of the Anatomische Gesellschaft Jg. 227 (2020)
    ISSN: 1618-0402; 0940-9602
    Online Volltext: dx.doi.org/
  • Kalmbach, Alexander; Schröder, Christopher; Klein-Hitpaß, Ludger; Nordström, Karl; Ulz, Peter; Heitzer, Ellen; Speicher, Michael R.; Rahmann, Sven; Wieczorek, Dagmar; Horsthemke, Bernhard; Bramswig, Nuria C.
    Genome-wide analysis of the nucleosome landscape in individuals with coffin-siris syndrome
    In: Cytogenetic and Genome Research Jg. 159 (2019) S. 1 - 11
    ISSN: 1424-859X; 1424-8581
    Online Volltext: dx.doi.org/
  • Zeschnigk, Michael; Horsthemke, Bernhard
    Next-Generation-Sequencing in der Epigenetik
    In: Medizinische Genetik Jg. 31 (2019) Nr. 2, S. 205 - 211
    ISSN: 1863-5490; 0936-5931
    Online Volltext: dx.doi.org/
  • Florian, Rahel T.; Kraft, Florian; Leitão, Elsa; Kaya, Sabine; Klebe, Stephan; Magnin, Eloi; van Rootselaar, Anne-Fleur; Buratti, Julien; Kühnel, Theresa; Schröder, Christopher; Giesselmann, Sebastian; Tschernoster, Nikolai; Altmueller, Janine; Lamiral, Anaide; Keren, Boris; Nava, Caroline; Bouteiller, Delphine; Forlani, Sylvie; Jornea, Ludmila; Kubica, Regina; Ye, Tao; Plassard, Damien; Jost, Bernard; Meyer, Vincent; Deleuze, Jean-François; Delpu, Yannick; Avarello, Mario D. M.; Vijfhuizen, Lisanne S.; Rudolf, Gabrielle; Hirsch, Edouard; Kroes, Thessa; Reif, Philipp S.; Rosenow, Felix; Ganos, Christos; Vidailhet, Marie; Thivard, Lionel; Mathieu, Alexandre; Bourgeron, Thomas; Kurth, Ingo; Rafehi, Haloom; Steenpass, Laura; Horsthemke, Bernhard; Berkovic, Samuel F.; Bisulli, Francesca; Brancati, Francesco; Canafoglia, Laura; Casari, Giorgio; Guerrini, Renzo; Ishiura, Hiroyuki; Licchetta, Laura; Mei, Davide; Pippucci, Tommaso; Sadleir, Lynette; Scheffer, Ingrid E.; Striano, Pasquale; Tinuper, Paolo; Tsuji, Shoji; Zara, Federico; LeGuern, Eric; Klein, Karl Martin; Labauge, Pierre; Bennett, Mark F.; Bahlo, Melanie; Gecz, Jozef; Corbett, Mark A.; Tijssen, Marina A. J.; van den Maagdenberg, Arn M. J. M.; Depienne, Christel
    Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
    In: Nature Communications Jg. 10 (2019) Nr. 1, S. 4919
    ISSN: 2041-1723
    Online Volltext: dx.doi.org/ Online Volltext
  • Horsthemke, Bernhard
    A critical view on transgenerational epigenetic inheritance in humans
    In: Nature Communications Jg. 9 (2018) Nr. 1, S. 2973
    ISSN: 2041-1723
    Online Volltext: dx.doi.org/
  • Bramswig, Nuria C.; Buiting, Karin; Bechtel, Natalie; Horsthemke, Bernhard; Rostasy, Kevin; Wieczorek, Dagmar
    Angelman Syndrome-Affected Individual with a Numerically Normal Karyotype and Isodisomic Paternal Uniparental Disomy of Chromosome 15 due to Maternal Robertsonian Translocation (14;15) by Monosomy Rescue
    In: Cytogenetic and Genome Research Jg. 156 (2018) Nr. 1, S. 9 - 13
    ISSN: 1424-859X; 1424-8581; 0301-0171; 1421-9816
    Online Volltext: dx.doi.org/
  • Dóra, Ács Orsolya; Bálint, Péterfia; Péter, Hollósi; Irén, Haltrich; Ágnes, Sallai; Andrea, Luczay; Buiting, Karin; Horsthemke, Bernhard; Dóra, Török; András, Szabó; György, Fekete
    Rapid first-tier genetic diagnosis in patients with Prader-Willi syndrome
    In: Orvosi Hetilap Jg. 159 (2018) Nr. 2, S. 64 - 69
    ISSN: 1788-6120; 0030-6002
    Online Volltext: dx.doi.org/
  • Beygo, Jasmin; Mertel, Claudia; Kaya, Sabine; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas; Horsthemke, Bernhard; Buiting, Karin
    The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders
    In: Epigenetics Jg. 13 (2018) Nr. 8, S. 822 - 828
    ISSN: 1559-2308; 1559-2294
    Online Volltext: dx.doi.org/
  • Beygo, Jasmin; Küchler, Alma; Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eckle, Jonas; Eggermann, Thomas; Gellhaus, Alexandra; Kanber, Deniz; Kordaß, Ulrike; Lüdecke, Hermann-Josef; Purmann, Sabine; Rossier, Eva; van de Nes, Johannes; Van Der Werf, Ilse M; Wenzel, Maren; Wieczorek, Dagmar; Horsthemke, Bernhard; Buiting, Karin
    New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
    In: European Journal of Human Genetics Jg. 25 (2017) Nr. 8, S. 935 - 945
    ISSN: 1476-5438; 1018-4813
    Online Volltext: dx.doi.org/
  • Schröder, Christopher; Leitão, Elsa; Wallner, Stefan; Schmitz, Gerd; Klein-Hitpaß, Ludger; Sinha, Anupam; Jöckel, Karl-Heinz; Heilmann-Heimbach, Stefanie; Hoffmann, Per; Nöthen, Markus M.; Steffens, Michael; Ebert, Peter; Rahmann, Sven; Horsthemke, Bernhard
    Regions of common inter-individual DNA methylation differences in human monocytes: Genetic basis and potential function
    In: Epigenetics & Chromatin Jg. 10 (2017) Nr. 1, S. 37
    ISSN: 1756-8935
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    The inheritance of epigenetic defects : ein persönlicher Bericht
    In: Medizinische Genetik Jg. 29 (2017) Nr. 1, S. 1 - 7
    ISSN: 1863-5490; 0936-5931
    Online Volltext: dx.doi.org/
  • Beygo, Jasmin; Joksić, Ivana D.; Strom, Tim M.; Lüdecke, Hermann-Josef; Kolarova, Julia; Siebert, Reiner; Miković, Željko M.; Horsthemke, Bernhard; Buiting, Karin
    A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrom
    In: European journal of human genetics: EJHG Jg. 24 (2016)
    ISSN: 1018-4813
    Online Volltext: dx.doi.org/
  • Buiting, Karin; Williams, Charles; Horsthemke, Bernhard
    Angelman syndrome-insights into a rare neurogenetic disorder
    In: Nature Reviews Neurology Jg. 12 (2016) Nr. 10, S. 584 - 593
    ISSN: 1759-4766; 1759-4758
    Online Volltext: dx.doi.org/
  • Wallner, Stefan; Schröder, Christopher; Leitão, Elsa; Berulava, Tea; Haak, Claudia; Beisser, Daniela; Rahmann, Sven; Richter, Andreas S.; Manke, Thomas; Bönisch, Ulrike; Arrigoni, Laura; Fröhler, Sebastian; Klironomos, Filippos; Chen, Wei; Rajewsky, Nikolaus; Müller, Fabian; Ebert, Peter; Lengauer, Thomas; Barann, Matthias; Rosenstiel, Philip; Gasparoni, Gilles; Nordström, Karl; Walter, Jörn; Brors, Benedikt; Zipprich, Gideon; Felder, Bärbel; Klein-Hitpaß, Ludger; Attenberger, Corinna; Schmitz, Gerd; Horsthemke, Bernhard
    Epigenetic dynamics of monocyte-to-macrophage differentiation
    In: Epigenetics and Chromatin Jg. 9 (2016) S. 33
    ISSN: 1756-8935
    Online Volltext: dx.doi.org/
  • Grothaus, Katrin; Horsthemke, Bernhard; Wieczorek, Dagmar; Siebert, Reiner; Kolarova, Julia; Mikat, Barbara; Gellhaus, Alexandra; Kanber, Deniz
    Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment
    In: Epigenetics Jg. 11 (2016) Nr. 3, S. 216 - 226
    ISSN: 1559-2308; 1559-2294
    Online Volltext: dx.doi.org/
  • van der Werf, Ilse M; Buiting, Karin; Czeschik, Christina; Reyniers, Edwin; Vandeweyer, Geert; Vanhaesebrouck, Piet; Lüdecke, Hermann-Josef; Wieczorek, Dagmar; Horsthemke, Bernhard; Mortier, Geert; Leroy, Jules G; Kooy, R Frank
    Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
    In: European Journal of Human Genetics Jg. 24 (2016) Nr. 12, S. 1724 - 1729
    ISSN: 1018-4813
    Online Volltext: dx.doi.org/
  • Bens, Susanne; Kolarova, Julia; Beygo, Jasmin; Buiting, Karin; Caliebe, Almuth; Eggermann, Thomas; Gillessen-Kaesbach, Gabriele; Prawitt, Dirk; Thiele-Schmitz, Susanne; Begemann, Matthias; Enklaar, Thorsten; Gutwein, Jana; Haake, Andrea; Paul, Ulrike; Richter, Julia; Soellner, Lukas; Vater, Inga; Monk, David; Horsthemke, Bernhard; Ammerpohl, Ole; Siebert, Reiner
    Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances
    In: Epigenomics Jg. 8 (2016) Nr. 6, S. 801 - 816
    ISSN: 1750-1911
  • Trapphoff, Tom; Eichenlaub-Ritter, Ursula; Horsthemke, Bernhard; Grümmer, Ruth; Arnold, Georg J.; Fröhlich, Thomas; Deutsch, Daniela R.; Demond, Hannah; Dankert, Deborah; Heiligentag, Martyna
    Postovulatory aging affects dynamics of mRNA, expression and localization of maternal effect proteins, spindle integrity and pericentromeric proteins in mouse oocytes
    In: Human Reproduction Jg. 31 (2016) Nr. 1, S. 133 - 149
    ISSN: 1460-2350; 0268-1161
    Online Volltext: dx.doi.org/
  • Demond, Hannah; Trapphoff, Tom; Dankert, Deborah; Heiligentag, Martyna; Grümmer, Ruth; Horsthemke, Bernhard; Eichenlaub-Ritter, Ursula
    Preovulatory Aging In Vivo and In Vitro Affects Maturation Rates, Abundance of Selected Proteins, Histone Methylation Pattern and Spindle Integrity in Murine Oocytes
    In: PLoS One Jg. 11 (2016) Nr. 9, S. e0162722
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Stunnenberg, Hendrik G; Hirst, Martin; Abrignani, Sergio; Adams, David; de Almeida, Melanie; Altucci, Lucia; Amin, Viren; Amit, Ido; Antonarakis, Stylianos E; Aparicio, Samuel; Arima, Takahiro; Arrigoni, Laura; Arts, Rob; Asnafi, Vahid; Esteller, Manel; Bae, Jae-Bum; Bassler, Kevin; Beck, Stephan; Berkman, Benjamin; Bernstein, Bradley E; Bilenky, Mikhail; Bird, Adrian; Bock, Christoph; Boehm, Bernhard; Bourque, Guillaume; Breeze, Charles E; Brors, Benedikt; Bujold, David; Burren, Oliver; Bussemakers, Marion J; Butterworth, Adam; Campo, Elias; Carrillo-de-Santa-Pau, Enrique; Chadwick, Lisa; Chan, Kui Ming; Chen, Wei; Cheung, Tom H; Chiapperino, Luca; Choi, Nak Hyen; Chung, Ho-Ryun; Clarke, Laura; Connors, Joseph M; Cronet, Philippe; Danesh, John; Dermitzakis, Manolis; Drewes, Gerard; Durek, Pawel; Dyke, Stephanie; Dylag, Tomasz; Eaves, Connie J; Ebert, Peter; Eils, Roland; Eils, Jürgen; Ennis, Catherine A; Enver, Tariq; Feingold, Elise A; Felder, Bärbel; Ferguson-Smith, Anne; Fitzgibbon, Jude; Flicek, Paul; Foo, Roger S-Y; Fraser, Peter; Frontini, Mattia; Furlong, Eileen; Gakkhar, Sitanshu; Gasparoni, Nina; Gasparoni, Gilles; Geschwind, Daniel H; Gla?ar, Petar; Graf, Thomas; Grosveld, Frank; Guan, Xin-Yuan; Guigo, Roderic; Gut, Ivo G; Hamann, Alf; Han, Bok-Ghee; Harris, R Alan; Heath, Simon; Helin, Kristian; Hengstler, Jan G; Heravi-Moussavi, Alireza; Herrup, Karl; Hill, Steven; Hilton, Jason A; Hitz, Benjamin C; Horsthemke, Bernhard; Hu, Ming; Hwang, Joo-Yeon; Ip, Nancy Y; Ito, Takashi; Javierre, Biola-Maria; Jenko, Sasa; Jenuwein, Thomas; Joly, Yann; Jones, Steven J M; Kanai, Yae; Kang, Hee Gyung; Karsan, Aly; Kiemer, Alexandra K; Kim, Song Cheol; Kim, Bong-Jo; Kim, Hyeon-Hoe; Kimura, Hiroshi; Kinkley, Sarah; Klironomos, Filippos; Koh, In-Uk; Kostadima, Myrto; Kressler, Christopher; Kreuzhuber, Roman; Kundaje, Anshul; Küppers, Ralf; Larabell, Carolyn; Lasko, Paul; Lathrop, Mark; Lee, Daniel H S; Lee, Suman; Lehrach, Hans; Leitão, Elsa; Lengauer, Thomas; Lernmark, Åke; Leslie, R David; Leung, Gilberto K K; Leung, Danny; Loeffler, Markus; Ma, Yussanne; Mai, Antonello; Manke, Thomas; Marcotte, Eric R; Marra, Marco A; Martens, Joost H A; Martin-Subero, Jose Ignacio; Maschke, Karen; Merten, Christoph; Milosavljevic, Aleksandar; Minucci, Saverio; Mitsuyama, Totai; Moore, Richard A; Müller, Fabian; Mungall, Andrew J; Netea, Mihai G; Nordström, Karl; Norstedt, Irene; Okae, Hiroaki; Onuchic, Vitor; Ouellette, Francis; Ouwehand, Willem; Pagani, Massimiliano; Pancaldi, Vera; Pap, Thomas; Pastinen, Tomi; Patel, Ronak; Paul, Dirk S; Pazin, Michael J; Pelicci, Pier Giuseppe; Phillips, Anthony G; Polansky, Julia; Porse, Bo; Pospisilik, J Andrew; Prabhakar, Shyam; Procaccini, Dena C; Radbruch, Andreas; Rajewsky, Nikolaus; Rakyan, Vardham; Reik, Wolf; Ren, Bing; Richardson, David; Richter, Andreas; Rico, Daniel; Roberts, David J; Rosenstiel, Philip; Rothstein, Mark; Salhab, Abdulrahman; Sasaki, Hiroyuki; Satterlee, John S; Sauer, Sascha; Schacht, Claudia; Schmidt, Florian; Schmitz, Gerd; Schreiber, Stefan; Schröder, Christopher; Schübeler, Dirk; Schultze, Joachim L; Schulyer, Ronald P; Schulz, Marcel; Seifert, Martin; Shirahige, Katsuhiko; Siebert, Reiner; Sierocinski, Thomas; Siminoff, Laura; Sinha, Anupam; Soranzo, Nicole; Spicuglia, Salvatore; Spivakov, Mikhail; Steidl, Christian; Strattan, J Seth; Stratton, Michael; Südbeck, Peter; Sun, Hao; Suzuki, Narumi; Suzuki, Yutaka; Tanay, Amos; Torrents, David; Tyson, Frederick L; Ulas, Thomas; Ullrich, Sebastian; Ushijima, Toshikazu; Valencia, Alfonso; Vellenga, Edo; Vingron, Martin; Wallace, Chris; Wallner, Stefan; Walter, Jörn; Wang, Huating; Weber, Stephanie; Weiler, Nina; Weller, Andreas; Weng, Andrew; Wilder, Steven; Wiseman, Sam M; Wu, Angela R; Wu, Zhenguo; Xiong, Jieyi; Yamashita, Yasuhiro; Yang, Xinyi; Yap, Desmond Y; Yip, Kevin Y; Yip, Stephen; Yoo, Jae-Il; Zerbino, Daniel; Zipprich, Gideon
    The International Human Epigenome Consortium : A Blueprint for Scientific Collaboration and Discovery
    In: Cell Jg. 167 (2016) Nr. 5, S. 1145 - 1149
    ISSN: 0092-8674
    Online Volltext: dx.doi.org/
  • Grosser, Christian; Wagner, Nicholas; Grothaus, Katrin; Horsthemke, Bernhard
    Altering TET dioxygenase levels within physiological range affects DNA methylation dynamics of HEK293 cells
    In: Epigenetics Jg. 10 (2015) Nr. 9, S. 819 - 833
    ISSN: 1559-2294
    Online Volltext: dx.doi.org/ Online Volltext
  • Elbracht, Miriam; Buiting, Karin; Bens, Susanne; Siebert, Reiner; Horsthemke, Bernhard; Gillessen-Kaesbach, Gabriele; Eggermann, Thomas
    Chromosom 14-assoziierte Imprintingsyndrome – Temple- und Kagami-Ogata-Syndrome : ein klinisches und molekulares Update
    In: Medizinische Genetik Jg. 27 (2015) Nr. 2, S. 247 - 253
    ISSN: 1863-5490; 0936-5931
    Online Volltext: dx.doi.org/
  • Buiting, Karin; Clayton-Smith, Jill; Driscoll, Daniel J.; Gillessen-Kaesbach, Gabriele; Kanber, Deniz; Schwinger, Eberhard; Williams, Charles A.; Horsthemke, Bernhard
    Clinical utility gene card for : Angelman syndrome
    In: European journal of human genetics Jg. 23 (2015) Nr. 2, S. e1 - e3
    ISSN: 1018-4813
    Online Volltext: dx.doi.org/
  • Laurentino, Sandra; Beygo, Jasmin; Nordhoff, Verena; Kliesch, Sabine; Wistuba, Joachim; Borgmann, Jennifer; Buiting, Karin; Horsthemke, Bernhard; Gromoll, Jörg
    Epigenetic germline mosaicism in infertile men
    In: Human Molecular Genetics Jg. 24 (2015) Nr. 5, S. 1295 - 1304
    ISSN: 0964-6906; 1460-2083
    Online Volltext: dx.doi.org/
  • Laurentino, S.; Beygo, J.; Nordhoff, V.; Kliesch, S.; Wistuba, J.; Borgmann, J.; Buiting, Karin; Horsthemke, Bernhard; Gromoll, J.
    Epigenetic heterogeneity in sperm of infertile men
    In: Human Reproduction Jg. 30 1 (2015) S. 104 - 104
    ISSN: 0268-1161; 1460-2350
  • Docherty, Louise E.; Rezwan, Faisal I.; Poole, Rebecca L.; Turner, Claire L. S.; Kivuva, Emma; Maher, Eamonn R.; Smithson, Sarah F.; Hamilton-Shield, Julian P.; Patalan, Michael; Gizewska, Maria; Peregud-Pogorzelski, Jaroslaw; Beygo, Jasmin; Buiting, Karin; Horsthemke, Bernhard; Soellner, Lukas; Begemann, Matthias; Eggermann, Thomas; Baple, Emma; Mansour, Sahar; Temple, I. Karen; MacKay, Deborah J. G.
    Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans
    In: Nature Communications Jg. 6 (2015) S. 8086
    ISSN: 2041-1723
    Online Volltext: dx.doi.org/
  • Berulava, Tea; Rahmann, Sven; Rademacher, Katrin; Klein-Hitpass, Ludgar; Horsthemke, Bernhard
    N6-Adenosine Methylation in MiRNAs
    In: PLoS One Jg. 10 (2015) Nr. 2, S. e0118438
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Caliebe, Almuth; Richter, Julia; Ammerpohl, Ole; Kanber, Deniz; Beygo, Jasmin; Bens, Susanne; Haake, Andrea; Jüttner, Eva; Korn, Bernhard; Mackay, Deborah J G; Martin-Subero, José I.; Nagel, Inga; Sebire, Neil J.; Seidmann, Larissa; Vater, Inga; Kaisenberg von, Constantin Sylvius; Temple, Karen; Horsthemke, Bernhard; Buiting, Karin; Siebert, Reiner
    A familial disorder of altered DNA-methylation
    In: Journal of Medical Genetics Jg. 51 (2014) Nr. 6, S. 407 - 412
    ISSN: 0022-2593
    Online Volltext: dx.doi.org/
  • Balliu, Brunilda; Würtz, Rolf P; Horsthemke, Bernhard; Wieczorek, Dagmar; Böhringer, Stefan
    Classification and visualization based on derived image features : application to genetic syndromes
    In: PLoS One Jg. 9 (2014) Nr. 11, S. e109033
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Buiting, Karin; Donato, Nataliya Di; Beygo, Jasmin; Bens, Susanne; Hagen, Maya von der; Hackmann, Karl; Horsthemke, Bernhard
    Clinical phenotypes of MAGEL2 mutations and deletions
    In: Orphanet Journal of Rare Diseases Jg. 9 (2014) Nr. 1, S. 40
    ISSN: 1750-1172
    Online Volltext: dx.doi.org/
  • Buiting, Karin; Cassidy, Suzanne B.; Driscoll, Daniel J.; Gillessen-Kaesbach, Gabriele; Kanber, Deniz; Tauber, Maithé; Schwinger, Eberhard; Horsthemke, Bernhard
    Clinical utility gene card for : Prader-Willi Syndrome
    In: European Journal of Human Genetics Jg. 22 (2014) Nr. 9, S. 1153
    ISSN: 1018-4813; 1476-5438
    Online Volltext: dx.doi.org/
  • Wieczorek, Dagmar; Newman, William G.; Wieland, Thomas; Berulava, Tea; Kaffe, Maria; Falkenstein, Daniela; Beetz, Christian; Graf, Elisabeth; Schwarzmayr, Thomas; Douzgou, Sofia; Clayton-Smith, Jill; Daly, Sarah B.; Williams, Simon G.; Bhaskar, Sanjeev S.; Urquhart, Jill E.; Anderson, Beverley H.; O'Sullivan, James B.; Boute, Odile; Gundlach, Jasmin; Czeschik, Johanna C. H.; Van Essen, Anthonie J.; Hazan, Filiz; Park, Sarah; Hing, Anne; Küchler, Alma; Lohmann, Dietmar; Ludwig, Kerstin U.; Mangold, Elisabeth; Steenpaß, Laura; Zeschnigk, Michael; Lemke, Johannes R.; Lourenço, Charles M. A.; Hehr, Ute; Prott, Eva C.; Waldenberger, Melanie; Böhmer, Anne C.; Horsthemke, Bernhard; O'Keefe, Raymond T.; Meitinger, Thomas A.; Burn, John; Lüdecke, Hermann-Josef; Strom, Tim M.
    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
    In: American journal of human genetics Jg. 95 (2014) Nr. 6, S. 698 - 707
    ISSN: 0002-9297
    Online Volltext: dx.doi.org/ Online Volltext
  • Rademacher, Katrin; Schröder, Christopher; Kanber, Deniz; Klein-Hitpaß, Ludger; Wallner, Stefan; Zeschnigk, Michael; Horsthemke, Bernhard
    Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse
    In: Genome Biology and Evolution Jg. 6 (2014) Nr. 7, S. 1579 - 1588
    ISSN: 1759-6653
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    Grußwort des Tagungspräsidenten
    In: Medizinische Genetik Jg. 26 (2014) Nr. 1, S. 53 - 54
    ISSN: 1863-5490; 0936-5931
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    In brief : genomic imprinting and imprinting diseases
    In: Journal of pathology Jg. 232 (2014) Nr. 5, S. 485 - 487
    ISSN: 0022-3417; 1096-9896
    Online Volltext: dx.doi.org/
  • Claussnitzer, Melina; Dankel, Simon Nitter; Klocke, Bernward; Grallert, Harald; Glunk, Viktoria; Berulava, Tea; Lee, Heekyoung; Oskolkov, Nikolay; Fadista, Joao; Ehlers, Kerstin; Wahl, Simone; Hoffmann, Christoph; Qian, Kun; Rönn, Tina; Riess, Helene; Müller-Nurasyid, Martina; Bretschneider, Nancy; Schroeder, Timm; Skurk, Thomas; Horsthemke, Bernhard; Spieler, Derek; Klingenspor, Martin; Seifert, Martin; Kern, Michael J.; Mejhert, Niklas; Dahlman, Ingrid; Hansson, Ola; Hauck, Stefanie M.; Blüher, Matthias; Arner, Peter; Groop, Leif; Illig, Thomas; Suhre, Karsten; Hsu, Yi-Hsiang; Mellgren, Gunnar; Hauner, Hans; Laumen, Helmut
    Leveraging Cross-Species Transcription Factor Binding Site Patterns : From Diabetes Risk Loci to Disease Mechanisms
    In: Cell Jg. 156 (2014) Nr. 1-2, S. 343 - 358
    ISSN: 0092-8674
    Online Volltext: dx.doi.org/
  • Grosser, Christian; Neumann, Lisa; Horsthemke, Bernhard; Zeschnigk, Michael; van de Nes, Johannes
    Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patients
    In: Neuroscience Letters Jg. 566 (2014) S. 241 - 246
    ISSN: 1872-7972
    Online Volltext: dx.doi.org/
  • Dankert, Debora; Demond, Hannah; Trapphoff, Tom; Heiligentag, Martyna; Rademacher, Katrin; Eichenlaub-Ritter, Ursula; Horsthemke, Bernhard; Grümmer, Ruth
    Pre- and Postovulatory Aging of Murine Oocytes Affect the Transcript Level and Poly(A) Tail Length of Maternal Effect Genes
    In: PLoS One Jg. 9 (2014) Nr. 10, S. e108907
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Neumann, Lisa C.; Feiner, Nathalie; Meyer, Axel; Buiting, Karin; Horsthemke, Bernhard
    The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes
    In: Genome Biology and Evolution Jg. 6 (2014) Nr. 2, S. 344 - 351
    ISSN: 1759-6653
    Online Volltext: dx.doi.org/
  • Beygo, Jasmin; Ammerpohl, Ole; Gritzan, Daniela; Heitmann, Melanie; Rademacher, Katrin; Richter, Julia; Caliebe, Almuth; Siebert, Reiner; Horsthemke, Bernhard; Buiting, Karin
    Deep Bisulfite Sequencing of Aberrantly Methylated Loci in a Patient with Multiple Methylation Defects
    In: PLoS One Jg. 8 (2013) Nr. 10, S. e76953
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Martin, Marcel; Maßhöfer, Lars; Temming, Petra; Rahmann, Sven; Metz, Claudia; Bornfeld, Norbert; van de Nes, Johannes; Klein-Hitpaß, Ludger; Hinnebusch, Alan G.; Horsthemke, Bernhard; Lohmann, Dietmar; Zeschnigk, Michael
    Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3
    In: Nature Genetics Jg. 45 (2013) Nr. 8, S. 933 - 936
    ISSN: 1061-4036; 1546-1718
    Online Volltext: dx.doi.org/
  • Berulava, Tea; Ziehe, Matthias; Klein-Hitpaß, Ludger; Mladenov, Emil; Thomale, Jürgen; Rüther, Ulrich; Horsthemke, Bernhard
    FTO levels affect RNA modification and the transcriptome
    In: European Journal of Human Genetics Jg. 21 (2013) Nr. 3, S. 317 - 323
    ISSN: 1018-4813; 1476-5438
    Online Volltext: dx.doi.org/
  • Steenpass, Laura; Kanber, Deniz; Hiber, Michaela; Buiting, Karin; Horsthemke, Bernhard; Lohmann, Dietmar
    Human PPP1R26P1 Functions as cis-Repressive Element in Mouse Rb1
    In: PLoS ONE Jg. 8 (2013) Nr. 9, S. e74159
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Eggermann, Thomas; Soellner, Lukas; Bens, Susanne; Spengler, Sabrina; Siebert, Reiner; Buiting, Karin; Horsthemke, Bernhard; Begemann, Matthias
    Molekulargenetische Diagnostik von Imprinting-Erkrankungen
    In: Biospektrum Jg. 19 (2013) Nr. 7, S. 753 - 758
    ISSN: 0947-0867; 1868-6249
    Online Volltext: dx.doi.org/
  • Eggermann, Thomas; Begemann, Matthias; Soellner, Lukas; Elbracht, Miriam; Buiting, Karin; Horsthemke, Bernhard; Spengler, Sabrina
    Molekulargenetische Diagnostik von Imprintingerkrankungen : Relevanz von Multilocusmethylierungsdefekten
    In: Medizinische Genetik Jg. 25 (2013) Nr. 1, S. 5 - 14
    ISSN: 1863-5490; 0936-5931
    Online Volltext: dx.doi.org/
  • Kanber, Deniz; Buiting, Karin; Roos, Christian; Gromoll, Jörg; Kaya, Sabine; Horsthemke, Bernhard; Lohmann, Dietmar
    The Origin of the RB1 Imprint
    In: PLoS One Jg. 8 (2013) Nr. 11, S. e81502
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Beygo, Jasmin; Citro, Valentina; Sparago, Angela; Crescenzo, Agostina de; Cerrato, Flavia; Heitmann, Melanie; Rademacher, Katrin; Guala, Andrea; Enklaar, Thorsten; Anichini, Cecilia; Cirillo Silengo, Margherita; Graf, Notker; Prawitt, Dirk; Cubellis, Maria Vittoria; Horsthemke, Bernhard; Buiting, Karin; Riccio, Andrea
    The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites
    In: Human Molecular Genetics: HMG online Jg. 22 (2013) Nr. 3, S. 544 - 557
    ISSN: 1460-2083; 0964-6906
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    Weichenstellungen im Genom : Die Epigenetik erklärt, wie uns frühe Entwicklungsereignisse dauerhaft prägen
    In: Unikate: Berichte aus Forschung und Lehre (2013) Nr. 44: Medizin: 50 Jahre Universitätsklinikum Essen, S. 12 - 21
    ISBN: 978-3-934359-44-4 ISSN: 0944-6060; 1869-3881
    Online Volltext: dx.doi.org/ Online Volltext
  • Kuehnen, Peter; Mischke, Mona; Wiegand, Susanna; Sers, Christine; Horsthemke, Bernhard; Lau, Susanne; Keil, Thomas; Lee, Young-Ae; Grueters, Annette; Krude, Heiko
    An Alu Element–Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity
    In: PLoS Genetics Jg. 8 (2012) Nr. 3,
    ISSN: 1553-7390; 1553-7404
    Online Volltext: dx.doi.org/
  • Grasemann, Corinna; Devlin, Maureen J.; Rzeczkowska, Paulina A.; Herrmann, Ralf; Horsthemke, Bernhard; Hauffa, Berthold; Grynpas, Marc; Alm, Christina; Bouxsein, Mary L.; Palmert, Mark R.
    Parental Diabetes : The Akita Mouse as a Model of the Effects of Maternal and Paternal Hyperglycemia in Wildtype Offspring
    In: PLoS One Jg. 7 (2012) Nr. 11, S. e50210
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Neumann, Lisa; Markaki, Yolanda; Mladenov, Emil; Hoffmann, Daniel; Buiting, Karin; Horsthemke, Bernhard
    The imprinted NPAP1/C15orf2 gene in the Prader-Willi syndrome region encodes a nuclear pore complex associated protein
    In: Human Molecular Genetics Jg. 21 (2012) Nr. 18, S. 4038 - 4048
    ISSN: 1460-2083; 0964-6906
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    Waddington's epigenetic landscape and post-Darwinian biology
    In: BioEssays Jg. 34 (2012) Nr. 8, S. 711 - 712
    ISSN: 0265-9247; 1521-1878
    Online Volltext: dx.doi.org/
  • Eidson, Maggie; Wahlstrom, Justin; Beaulieu, Aimee M.; Zaidi, Bushra; Carsons, Steven E.; Crow, Peggy K.; Yuan, Jianda; Wolchok, Jedd D.; Horsthemke, Bernhard; Wieczorek, Dagmar; Sant'Angelo, Derek B.
    Altered development of NKT cells, γδ T cells, CD8 T cells and NK cells in a PLZF deficient patient
    In: PLoS ONE Jg. 6 (2011) Nr. 9,
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/
  • Böhringer, Stefan; Guenther, Manuel; Sinigerova, Stella; Wurtz, Rolf P.; Horsthemke, Bernhard; Wieczorek, Dagmar
    Automated syndrome detection in a set of clinical facial photographs
    In: American Journal of Medical Genetics. Part A Jg. 155 (2011) Nr. 9, S. 2161 - 2169
    ISSN: 1552-4833; 1096-8628; 1552-4825; 0148-7299
    Online Volltext: dx.doi.org/
  • Neumann, Lisa C.; Weinhäusel, Andreas; Thomas, Stefanie; Horsthemke, Bernhard; Lohmann, Dietmar; Zeschnigk, Michael
    EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation
    In: BMC Cancer Jg. 11 (2011) S. 380
    ISSN: 1471-2407
    Online Volltext: dx.doi.org/ Online Volltext
  • Arweiler-Harbeck, Diana; Horsthemke, Bernhard; Jahnke, Klaus; Hennies, Hans Christian
    Genetic aspects of familial Ménière's disease
    In: Otology & Neurotology Jg. 32 (2011) Nr. 4, S. 695 - 700
    ISSN: 1531-7129; 1537-4505
    Online Volltext: dx.doi.org/
  • Boehringer, Stefan; Van Der Lijn, Fedde; Liu, Fan; Günther, Manuel; Sinigerova, Stella; Nowak, Stefanie; Ludwig, Kerstin U.; Herberz, Ruth; Klein, Stefan; Hofman, Albert; Uitterlinden, Andre G.; Niessen, Wiro J.; Breteler, Monique M.B.; Van Der Lugt, Aad; Würtz, Rolf P.; Nöthen, Markus M.; Horsthemke, Bernhard; Wieczorek, Dagmar; Mangold, Elisabeth; Kayser, Manfred
    Genetic determination of human facial morphology : Links between cleft-lips and normal variation
    In: European Journal of Human Genetics Jg. 19 (2011) Nr. 11, S. 1192 - 1197
    ISSN: 1476-5438
    Online Volltext: dx.doi.org/
  • Bittner, Ann-Kathrin; Horsthemke, Bernhard; Winterhager, Elke; Grümmer, Ruth
    Hormone-induced delayed ovulation affects early embryonic development
    In: Fertility and Sterility Jg. 95 (2011) Nr. 7, S. 2390 - 2394
    ISSN: 0015-0282; 1556-5653
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard; Wawrzik, Michaela; Groß, Stephanie; Lich, Christina; Sauer, Birgitta; Rost, Imma; Krasemann, Ernst; Kosyakowa, Nadezda; Liehr, Thomas; Weise, Anja; Dybowski, Jan Nikolaj; Hoffmann, Daniel; Wieczorek, Dagmar
    Parental origin and functional relevance of a de novo UBE3A variant
    In: European Journal of Medical Genetics Jg. 54 (2011) Nr. 1, S. 19 - 24
    ISSN: 1769-7212
    Online Volltext: dx.doi.org/
  • Khandanpour, Cyrus; Möröy, Tarik; Dührsen, Ulrich; Lowenberg, Bob; Ehninger, Gerhard; Kroschinsky, Frank; Peeters, Justine K.; Schnittger, Susanne; Afshar, Khashayar; Schackert, Hans K.; Jansen, Joop H.; Slovak, Marilyn L.; Maharry, Kati; Marcucci, Guido; Bloomfield, Clara D.; Grzeschik, Karl-Heinz; Neubauer, Andreas; Siffert, Winfried; Horsthemke, Bernhard; Lohmann, Dietmar; Nückel, Holger; Sharif-Askari, Ehssan; Thiede, Christian; Valk, Peter J.M.
    A variant allele of the gene Growth factor independence 1 (Gfi1) is associated with Acute myeloid leukemia
    In: Blood Jg. 115 (2010) Nr. 12, S. 2462 - 2472
    ISSN: 0006-4971; 1528-0020
    Online Volltext: dx.doi.org/
  • Kosubek, Anna; Klein-Hitpaß, Ludger; Rademacher, Katrin; Horsthemke, Bernhard; Ryffel, Gerhart U.
    Aging of Xenopus tropicalis Eggs Leads to Deadenylation of a Specific Set of Maternal mRNAs and Loss of Developmental Potential
    In: PLoS One Jg. 5 (2010) Nr. 10, S. e13532
    ISSN: 1932-6203
    Online Volltext: dx.doi.org/ Online Volltext
  • Kuechler, Amla; Hauffa, Berthold; Köninger, Angela; Kleinau, Gunnar; Albrecht, Beate; Horsthemke, Bernhard; Gromoll, Jörg
    An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
    In: European Journal of Human Genetics Jg. 18 (2010) Nr. 6, S. 656 - 661
    ISSN: 1018-4813; 1476-5438
    Online Volltext: dx.doi.org/
  • Berulava, Tea; Horsthemke, Bernhard
    Comment on: Jowett et al. (2010) Genetic variation at the FTO locus influences RBL2 gene expression. Diabetes;59:726-732
    In: Diabetes Jg. 59 (2010) Nr. 7,
    ISSN: 0012-1797; 1939-327X
    Online Volltext: dx.doi.org/
  • Pechlivanis, Sonali; Scherag, Andre; Mühleisen, Thomas W.; Möhlenkamp, Stefan; Horsthemke, Bernhard; Boes, Tanja; Bröcker-Preuß, Martina; Mann, Klaus; Erbel, Raimund; Jöckel, Karl-Heinz; Nöthen, Markus M.; Moebus, Susanne
    Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the heinz nixdorf recall cohort
    In: Arteriosclerosis, Thrombosis, and Vascular Biology Jg. 30 (2010) Nr. 9, S. 1867 - 1872
    ISSN: 1079-5642; 1524-4636
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    Genomisches Imprinting und Imprintingfehler
    In: Medizinische Genetik Jg. 22 (2010) Nr. 4, S. 385 - 391
    ISSN: 1863-5490; 0936-5931
    Online Volltext: dx.doi.org/
  • Poplinski, Andreas; Tüttelmann, Frank; Kanber, Deniz; Horsthemke, Bernhard; Gromoll, Jörg
    Idiopathic male infertility is strongly associated with aberrant methylation of MEST and IGF2/H19 ICR1
    In: International Journal of Andrology Jg. 33 (2010) Nr. 4, S. 642 - 649
    ISSN: 1365-2605; 0105-6263
    Online Volltext: dx.doi.org/
  • Buiting, Karin; Kanber, Deniz; Horsthemke, Bernhard; Lohmann, Dietmar
    Imprinting of RB1 (the new kid on the block)
    In: Briefings in Functional Genomics and Proteomics Jg. 9 (2010) Nr. 4, S. 347 - 353
    ISSN: 2041-2657; 1477-4062
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    Mechanisms of imprint dysregulation
    In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Jg. 154 (2010) Nr. 3, S. 321 - 328
    ISSN: 1552-4876; 1552-4868
    Online Volltext: dx.doi.org/
  • Wawrzik, Michaela; Unmehopa, Unga Arifa; Swaab, Dick Frans; van de Nes, Johannes; Buiting, Karin; Horsthemke, Bernhard
    The C15orf2 gene in the Prader-Willi syndrome region is subject to genomic imprinting and positive selection
    In: Neurogenetics Jg. 11 (2010) Nr. 2, S. 153 - 161
    ISSN: 1364-6753; 1364-6745
    Online Volltext: dx.doi.org/
  • Berulava, Tea; Horsthemke, Bernhard
    The obesity-associated SNPs in intron 1 of the FTO gene affect primary transcript levels
    In: European Journal of Human Genetics Jg. 18 (2010) Nr. 9, S. 1054 - 1056
    ISSN: 1476-5438; 1018-4813
    Online Volltext: dx.doi.org/
  • Passarge, Eberhard; Horsthemke, Bernhard
    Altern und Sterblichkeit : eine Perspektive der Genetik und Evolution
    In: Unikate : Berichte aus Forschung und Lehre (2009) Nr. 35 : Natur-/Geisteswissenschaften – Sterben, Tod – und dann?, S. 8 - 19
    ISSN: 0944-6060
    Online Volltext
  • Fischer, Sven; Kohlhase, Jürgen; Böhm, Detlef; Schweiger, Bernd; Hoffmann, Daniel; Heitmann, Melanie; Horsthemke, Bernhard; Wieczorek, Dagmar
    Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia
    In: Journal of Medical Genetics Jg. 45 (2008) Nr. 11, S. 731 - 737
    ISSN: 0022-2593; 1468-6244
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    DNS-Diagnosen für Risiko-Familien : Gespräch
    In: Unikate : Berichte aus Forschung und Lehre (1992) Nr. 1 : Medizin – Krebsforschung, S. 54 - 58
    ISSN: 0944-6060
    Online Volltext
  • Horsthemke, Bernhard
    Gespräch mit Bernhard Horsthemke : DNS-Diagnosen für Risiko-Familien
    In: Essener Unikate: Berichte aus Forschung und Lehre (1992) Nr. 1: Medizin - Krebsforschung, S. 54 - 58
    ISSN: 1869-3881
    Online Volltext
  • Horsthemke, Bernhard
    Notwendig für die Regulation des Zellzyklus : die Rolle des RB1-Anti-Onkogens bei der Entstehung von Retinoblastomen
    In: Unikate : Berichte aus Forschung und Lehre (1992) Nr. 1 : Medizin – Krebsforschung, S. 46 - 53
    ISSN: 0944-6060
    Online Volltext
  • Horsthemke, Bernhard
    Notwendig für die Regulation des Zellzyklus - Diagnose und Therapie des Retinoblastoms
    In: Essener Unikate: Berichte aus Forschung und Lehre (1992) Nr. 1: Medizin - Krebsforschung, S. 46 - 53
    ISSN: 1869-3881
    Online Volltext

    • Abstracts

  • Dankert, D.; Demond, H.; Horsthemke, Bernhard; Grummer, R.
    Impact of postovulatory oocyte aging on initiation of genome activation in murine 2-cell embryos
    In: Human Reproduction Jg. 30 (2015) Nr. S 1, S. 237 - 237
    ISSN: 0268-1161; 1460-2350
    Online Volltext: dx.doi.org/

    • Beiträge in Sammelwerken und Tagungsbänden

  • Leitão, Elsa; Beygo, Jasmin; Zeschnigk, Michael; Klein-Hitpaß, Ludger; Bargull, Marcel; Rahmann, Sven; Horsthemke, Bernhard
    Locus-specific DNA methylation analysis by targeted deep bisulfite sequencing
    In: Epigenome Editing: Methods and Protocols 2018, S. 351 - 366
    ISBN: 978-1-4939-7773-4; 978-1-4939-7774-1
    Online Volltext: dx.doi.org/
  • Horsthemke, Bernhard
    Epigenetics
    In: Vogel and motulsky's human genetics: problems and approaches / Motulsky, Arno G.; Speicher, Michael R.; Antonarakis, Stylianos E. (Hrsg.), 2010, S. 299 - 318
    ISBN: 9783540376545; 9783540376538
    Online Volltext: dx.doi.org/