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Dr. rer. nat. Hermann-Josef Lüdecke

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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

  • Schmetz, Ariane; Schaper, Jörg; Thelen, Simon; Rana, Majeed; Klenzner, Thomas; Schaumann, Katharina; Beygo, Jasmin; Surowy, Harald; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family
    In: Genes Jg. 14 (2023) Nr. 3,
    Online Volltext: dx.doi.org/ (Open Access)
  • Tolchin, Dara; Yeager, Jessica P.; Prasad, Priya; Dorrani, Naghmeh; Russi, Alvaro Serrano; Martinez-Agosto, Julian A.; Haseeb, Abdul; Angelozzi, Marco; Santen, Gijs Willem Eduard; Ruivenkamp, Claudia; Mercimek-Andrews, Saadet; Depienne, Christel; Küchler, Alma; Mikat, Barbara; Ludecke, Hermann-Josef; Bilan, Frederic; Le Guyader, Gwenael; Gilbert-Dussardier, Brigitte; Keren, Boris; Heide, Solveig; Haye, Damien; Van Esch, Hilde; Keldermans, Liesbeth; Ortiz, Damara; Lancaster, Emily; Krantz, Ian D.; Krock, Bryan L.; Pechter, Kieran B.; Arkader, Alexandre; Medne, Livija; DeChene, Elizabeth T.; Calpena, Eduardo; Melistaccio, Giada; Wilkie, Andrew O.M.; Suri, Mohnish; Foulds, Nicola; Genomics England Research Consortium; Begtrup, Amber; Henderson, Lindsay B.; Forster, Cara; Reed, Patrick; McDonald, Marie T.; McConkie-Rosell, Allyn; Thevenon, Julien; Le Tanno, Pauline; Coutton, Charles; Tsai, Anne C.H.; Stewart, Sarah; Maver, Ales; Gorazd, Rudolf; Pichon, Olivier; Nizon, Mathilde; Cogné, Benjamin; Isidor, Bertrand; Martin-Coignard, Dominique; Stoeva, Radka; Lefebvre, Véronique; Le Caignec, Cédric
    De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
    In: The American Journal of Human Genetics Jg. 106 (2020) Nr. 6, S. 830 - 845
    Online Volltext: dx.doi.org/ (Open Access)
  • Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Küchler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann-Josef; Guida, Valentina; Krumbiegel, Mandy; Lonardo, Fortunato; Novelli, Antonio; Albrecht, Beate; Perria, Chiara; Scarano, Gioacchino; Spielmann, Malte; Nardone, Annamaria M.; Battaglia, Agatino; Brancati, Francesco; Bernardini, Laura
    Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes
    In: Clinical Genetics Jg. 96 (2019) Nr. 3, S. 246 - 253
    Online Volltext: dx.doi.org/
  • Jachimowicz, Ron D.; Beleggia, Filippo; Isensee, Jörg; Velpula, Bhagya Bhavana; Goergens, Jonas; Bustos, Matias A.; Doll, Markus A.; Shenoy, Anjana; Checa-Rodriguez, Cintia; Wiederstein, Janica Lea; Baranes-Bachar, Keren; Bartenhagen, Christoph; Hertwig, Falk; Teper, Nizan; Nishi, Tomohiko; Schmitt, Anna; Distelmaier, Felix; Lüdecke, Hermann-Josef; Albrecht, Beate; Krüger, Marcus; Schumacher, Björn; Geiger, Tamar; Hoon, Dave S.B.; Huertas, Pablo; Fischer, Matthias; Hucho, Tim; Peifer, Martin; Ziv, Yael; Reinhardt, H. Christian; Wieczorek, Dagmar; Shiloh, Yosef
    UBQLN4 Represses Homologous Recombination and Is Overexpressed in Aggressive Tumors
    In: Cell Jg. 176 (2019) Nr. 3, S. 505 - 519.e22
    Online Volltext: dx.doi.org/ (Open Access)
  • Lessel, Davor; Gehbauer, Christina; Bramswig, Nuria C.; Schluth-Bolard, Caroline; Venkataramanappa, Sathish; van Gassen, Koen L. I.; Hempel, Maja; Haack, Tobias B.; Baresic, Anja; Genetti, Casie A.; Funari, Mariana F. A.; Lessel, Ivana; Kuhlmann, Leonie; Simon, Ruth; Liu, Pentao; Denecke, Jonas; Küchler, Alma; De Kruijff, Ineke; Shoukier, Moneef; Lek, Monkol; Mullen, Thomas; Lüdecke, Hermann-Josef; Lerario, Antonio M.; Kobbe, Robin; Krieger, Thorsten; Demeer, Benedicte; Lebrun, Marine; Keren, Boris; Nava, Caroline; Buratti, Julien; Afenjar, Alexandra; Shinawi, Marwan; Guillen Sacoto, Maria J.; Gauthier, Julie; Hamdan, Fadi F.; Laberge, Anne-Marie; Campeau, Philippe M.; Louie, Raymond J.; Cathey, Sara S.; Prinz, Immo; Jorge, Alexander A. L.; Terhal, Paulien A.; Lenhard, Boris; Wieczorek, Dagmar; Strom, Tim M.; Agrawal, Pankaj B.; Britsch, Stefan; Tolosa, Eva; Kubisch, Christian
    BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
    In: Brain: A Journal of Neurology Jg. 141 (2018) Nr. 8, S. 2299 - 2311
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Reijnders, Margot R.F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A.C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B.A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A.L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W.E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P.A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M.A.; Douzgou, Sofia; Wall, Steven A.; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R.F.; Mathijssen, Irene M.J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O.M.
    De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder
    In: The American Journal of Human Genetics Jg. 102 (2018) Nr. 6, S. 1195 - 1203
    Online Volltext: dx.doi.org/ (Open Access)
  • Bramswig, Nuria C.; Bertoli-Avella, Aida M.; Albrecht, Beate; Al Aqeel, Aida I.; Alhashem, Amal; Al-Sannaa, Nouriya; Bah, Maissa; Bröhl, Katharina; Depienne, Christel; Dorison, Nathalie; Doummar, Diane; Ehmke, Nadja; Elbendary, Hasnaa M.; Gorokhova, Svetlana; Héron, Delphine; Horn, Denise; James, Kiely; Keren, Boris; Küchler, Alma; Ismail, Samira; Issa, Mahmoud Y.; Marey, Isabelle; Mayer, Michèle; McEvoy-Venneri, Jennifer; Megarbane, Andre; Mignot, Cyril; Mohamed, Sarar; Nava, Caroline; Philip, Nicole; Ravix, Cecile; Rolfs, Arndt; Sadek, Abdelrahim Abdrabou; Segebrecht, Lara; Stanley, Valentina; Trautman, Camille; Valence, Stephanie; Villard, Laurent; Wieland, Thomas; Engels, Hartmut; Strom, Tim M.; Zaki, Maha S.; Gleeson, Joseph G.; Lüdecke, Hermann-Josef; Bauer, Peter; Wieczorek, Dagmar
    Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
    In: Human Genetics Jg. 137 (2018) Nr. 9, S. 753 - 768
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Vasileiou, Georgia; Vergarajauregui, Silvia; Endele, Sabine; Popp, Bernt; Büttner, Christian; Ekici, Arif B.; Gerard, Marion; Bramswig, Nuria C.; Albrecht, Beate; Clayton-Smith, Jill; Morton, Jenny; Tomkins, Susan; Low, Karen; Weber, Astrid; Wenzel, Maren; Altmüller, Janine; Li, Yun; Wollnik, Bernd; Hoganson, George; Plona, Maria-Renée; Cho, Megan T.; Thiel, Christian T.; Lüdecke, Hermann-Josef; Strom, Tim M.; Calpena, Eduardo; Wilkie, Andrew O.M.; Wieczorek, Dagmar; Engel, Felix B.; Reis, André
    Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
    In: The American Journal of Human Genetics Jg. 102 (2018) Nr. 3, S. 468 - 479
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Kumar, Raman; Gardner, Alison; Homan, Claire C.; Douglas, Evelyn; Mefford, Heather; Wieczorek, Dagmar; Lüdecke, Hermann-Josef; Stark, Zornitza; Sadedin, Simon; Nowak, Catherine Bearce; Douglas, Jessica; Parsons, Gretchen; Mark, Paul; Loidi, Lourdes; Herman, Gail E.; Mihalic Mosher, Theresa; Gillespie, Meredith K.; Brady, Lauren; Tarnopolsky, Mark; Madrigal, Irene; Eiris, Jesús; Domènech Salgado, Laura; Rabionet, Raquel; Strom, Tim M.; Ishihara, Naoko; Inagaki, Hidehito; Kurahashi, Hiroki; Dudding-Byth, Tracy; Palmer, Elizabeth E.; Field, Michael; Gecz, Jozef
    Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
    In: Human Mutation Jg. 39 (2018) Nr. 8, S. 1126 - 1138
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Küchler, Alma; Czeschik, Johanna Christina; Graf, Elisabeth; Grasshoff, Ute; Hüffmeier, Ulrike; Busa, Tiffany; Beck-Woedl, Stefanie; Faivre, Laurence; Rivière, Jean-Baptiste; Bader, Ingrid; Koch, Johannes; Reis, André; Hehr, Ute; Rittinger, Olaf; Sperl, Wolfgang; Haack, Tobias B.; Wieland, Thomas; Engels, Hartmut; Prokisch, Holger; Strom, Tim M.; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3 : A recognizable condition
    In: European Journal of Human Genetics Jg. 25 (2017) Nr. 2, S. 183 - 191
    Online Volltext: dx.doi.org/ (Open Access)
  • Fryssira, Helena; Psoni, Stavroula; Amenta, Styliani; Tsoutsou, Eirini; Sofocleous, Christalena; Manolakos, Emmanouil; Gavra, Maria; Lüdecke, Hermann-Josef; Czeschik, Johanna-Christina
    Cantú Syndrome Associated with Ovarian Agenesis
    In: Molecular Syndromology Jg. 8 (2017) Nr. 4, S. 206 - 210
    Online Volltext: dx.doi.org/ (Open Access)
  • Dennert, Nicola; Engels, Hartmut; Cremer, Kirsten; Becker, Jessica; Wohlleber, Eva; Albrecht, Beate; Ehret, Julia K.; Lüdecke, Hermann-Josef; Suri, Mohnish; Carignani, Giulia; Renieri, Alessandra; Kukuk, Guido M.; Wieland, Thomas; Andrieux, Joris; Strom, Tim M.; Wieczorek, Dagmar; Dieux-Coëslier, Anne; Zink, Alexander M.
    De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
    In: American Journal of Medical Genetics, Part A Jg. 173 (2017) Nr. 2, S. 435 - 443
    Online Volltext: dx.doi.org/
  • Bramswig, Nuria C.; Caluseriu, O.; Lüdecke, Hermann-Josef; Bolduc, F.V.; Noel, N.C.L.; Wieland, T.; Surowy, H.M.; Christen, H.-J.; Engels, H.; Strom, T.M.; Wieczorek, Dagmar
    Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
    In: Human Genetics Jg. 136 (2017) Nr. 3, S. 297 - 305
    Online Volltext: dx.doi.org/
  • Bramswig, Nuria C.; Lüdecke, Hermann-Josef; Hamdan, Fadi F.; Altmüller, Janine; Beleggia, Filippo; Elcioglu, Nursel H.; Freyer, Catharine; Gerkes, Erica H.; Demirkol, Yasemin Kendir; Knupp, Kelly G.; Küchler, Alma; Li, Yun; Lowenstein, Daniel H.; Michaud, Jacques L.; Park, Kristen; Stegmann, Alexander P.A.; Veenstra-Knol, Hermine E.; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M.; Kleefstra, Tjitske; Wieczorek, Dagmar
    Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
    In: Human Genetics Jg. 136 (2017) Nr. 7, S. 821 - 834
    Online Volltext: dx.doi.org/
  • Bramswig, Nuria C.; Lüdecke, Hermann-Josef; Pettersson, M.; Albrecht, Beate; Bernier, R.A.; Cremer, K.; Eichler, E.E.; Falkenstein, D.; Gerdts, J.; Jansen, S.; Kuechler, A.; Kvarnung, M.; Lindstrand, A.; Nilsson, D.; Nordgren, A.; Pfundt, R.; Spruijt, L.; Surowy, H.M.; de Vries, B.B.A.; Wieland, T.; Engels, H.; Strom, T.M.; Kleefstra, T.; Wieczorek, Dagmar
    Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
    In: Human Genetics Jg. 136 (2017) Nr. 2, S. 179 - 192
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • 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
    Online Volltext: dx.doi.org/
  • Redler, Silke; Strom, Tim M; Wieland, Thomas; Cremer, Kirsten; Engels, Hartmut; Distelmaier, Felix; Schaper, Jörg; Küchler, Alma; Lemke, Johannes R; Jeschke, Stephanie; Schreyer, Nicole; Sticht, Heinrich; Koch, Margarete; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
    In: European Journal of Human Genetics Jg. 25 (2017) Nr. 7, S. 889 - 893
    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 Jg. 24 (2016) S. 1280 - 1286
    Online Volltext: dx.doi.org/ (Open Access)
  • Parenti, Ilaria; Gervasini, Cristina Giovanna; Pozojevic, Jelena; Wendt, Kerstin S.; Watrin, Erwan; Azzollini, Jacopo; Braunholz, Diana; Buiting, Karin; Cereda, Anna; Engels, Hartmut; Garavelli, Livia; Glazar, Renata; Graffmann, Barbara; Larizza, Lidia; Lüdecke, Hermann-Josef; Mariani, Milena; Masciadri, Maura; Pié, Juan; Ramos, Feliciano J.; Russo, Silvia; Selicorni, Angelo; Stefanova, Margarita; Strom, Tim Matthias; Werner, Rolf Günter; Wierzba, Jolanta; Zampino, Giuseppe; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Kaiser, Frank J.
    Expanding the clinical spectrum of the 'HDAC8-phenotype' : Implications for molecular diagnostics, counseling and risk prediction
    In: Clinical Genetics Jg. 89 (2016) Nr. 5, S. 564 - 573
    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
    Online Volltext: dx.doi.org/
  • Fryssira, Helen; Amenta, Stella; Kanber, Deniz; Sofocleous, Christalena; Lykopoulou, Evangelia; Kanaka-Gantenbein, Christina; Cerrato, Flavia; Lüdecke, Hermann-Josef; Bens, Susanne; Riccio, Andrea; Buiting, Karin
    A novel large deletion of the ICR1 region including H19 and putative enhancer elements
    In: BMC Medical Genetics Jg. 16 (2015) S. 30
    Online Volltext: dx.doi.org/ (Open Access)
  • Küchler, Alma; Willemsen, Marjolein H.; Albrecht, Beate; Bacino, Carlos A.; Bartholomew, Dennis W.; Bokhoven, Hans van; Boogaard, Marie Jose H. van den; Bramswig, Nuria; Büttner, Christian; Cremer, Kirsten; Czeschik, Johanna Christina; Engels, Hartmut; Gassen, Koen van; Graf, Elisabeth; Haelst, Mieke van; He, Weimin; Hogue, Jacob S.; Kempers, Marlies; Koolen, David; Monroe, Glen; Munnik, Sonja de; Pastore, Matthew; Reis, André; Reuter, Miriam S.; Tegay, David H.; Veltman, Joris; Visser, Gepke; Hasselt, Peter van; Smeets, Eric E. J.; Vissers, Lisenka; Wieland, Thomas; Wissink, Willemijn; Yntema, Helger; Zink, Alexander Michael; Strom, Tim M.; Lüdecke, Hermann-Josef; Kleefstra, Tjitske; Wieczorek, Dagmar
    De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability : expanding the mutational and clinical spectrum
    In: Human genetics Jg. 134 (2015) Nr. 1, S. 97 - 109
    Online Volltext: dx.doi.org/
  • Bramswig, Nuria C; Lüdecke, Hermann-Josef; Alanay, Yasemin; Albrecht, Beate; Barthelmie, Alexander; Boduroglu, Koray; Braunholz, Diana; Caliebe, Almuth; Chrzanowska, Krystyna H; Czeschik, Johanna Christina; Endele, Sabine; Graf, Elisabeth; Guillén-Navarro, Encarna; Kiper, Pelin Özlem Simsek; López-González, Vanesa; Parenti, Ilaria; Pozojevic, Jelena; Utine, Gulen Eda; Wieland, Thomas; Kaiser, Frank J; Wollnik, Bernd; Strom, Tim M; Wieczorek, Dagmar
    Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
    In: Human Genetics Jg. 134 (2015) Nr. 6, S. 553 - 568
    Online Volltext: dx.doi.org/
  • Kuechler, Alma; Zink, Alexander Michael; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Salviati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine U.; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim Matthias; Novarino, Gaia; Engels, Hartmut
    Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
    In: European Journal of Human Genetics Jg. 23 (2015) Nr. 6, S. 753 - 760
    Online Volltext: dx.doi.org/ (Open Access)
  • Maas, Saskia M.; Shaw, Adam C.; Bikker, Hennie; Lüdecke, Hermann-Josef; van der Tuin, Karin; Badura-Stronka, Magdalena; Belligni, Elga; Biamino, Elisa; Bonati, Maria Teresa; Carvalho, Daniel R.; Cobben, JanMaarten; de Man, Stella A.; Den Hollander, Nicolette S.; Di Donato, Nataliya; Garavelli, Livia; Grønborg, Sabine; Herkert, Johanna C.; Hoogeboom, A. Jeannette M.; Jamsheer, Aleksander; Latos-Bielenska, Anna; Maat-Kievit, Anneke; Magnani, Cinzia; Marcelis, Carlo; Mathijssen, Inge B.; Nielsen, Maartje; Otten, Ellen; Ousager, Lilian B.; Pilch, Jacek; Plomp, Astrid; Poke, Gemma; Poluha, Anna; Posmyk, Renata; Rieubland, Claudine; Silengo, Margharita; Simon, Marleen; Steichen, Elisabeth; Stumpel, Connie; Szakszon, Katalin; Polonkai, Edit; van den Ende, Jenneke; van der Steen, Antony; van Essen, Ton; van Haeringen, Arie; van Hagen, Johanna M.; Verheij, Joke B.G.M.; Mannens, Marcel M.; Hennekam, Raoul C.
    Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
    In: European Journal of Medical Genetics (EJMG) Jg. 58 (2015) Nr. 5, S. 279 - 292
    Online Volltext: dx.doi.org/ (Open Access)
  • Bramswig, Nuria C.; Ockeloen, Charlotte W.; Czeschik, Johanna Christina; van Essen, Antoni J.; Pfundt, Rolph; Smeitink, Jan; Poll-The, Bwee Tien; Engels, Hartmut; Strom, Tim Matthias; Wieczorek, Dagmar; Kleefstra, Tjitske; Lüdecke, Hermann-Josef
    Splitting versus lumping : Temple–Baraitser and Zimmermann–Laband syndromes
    In: Human genetics Jg. 134 (2015) Nr. 10, S. 1089 - 1097
    Online Volltext: dx.doi.org/
  • Czeschik, J. C.; Albrecht, Beate; Kayserili, H.; Küchler, Alma; Wagner, N.; Wieczorek, Dagmar; Lüdecke, Hermann-Josef
    A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndrome
    In: Clinical Dysmorphology Jg. 23 (2014) Nr. 2, S. 67 - 70
    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: The American Journal of Human Genetics Jg. 95 (2014) Nr. 6, S. 698 - 707
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Tasic, Velibor; Gucev, Zoran; Ristoska-Bojkovska, Nadica; Janchevska, Aleksandra; Lüdecke, Hermann-Josef
    Tricho-rhino-phalangeal syndrome in a 13-year-old girl with chronic renal failure and severe growth retardation
    In: Renal Failure Jg. 36 (2014) Nr. 4, S. 619 - 622
    Online Volltext: dx.doi.org/ (Open Access)
  • Czeschik, J. C.; Hehr, U.; Hartmann, B.; Lüdecke, Hermann-Josef; Rosenbaum, T.; Schweiger, Bernd; Wieczorek, Dagmar
    160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
    In: European Journal of Medical Genetics (EJMG) Jg. 56 (2013) Nr. 12, S. 689 - 694
    Online Volltext: dx.doi.org/
  • Wieczorek, Dagmar; Bögershausen, Nina; Beleggia, Filippo; Steiner-Haldenstätt, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmüller, Janine; Alanay, Yasemin; Kayserili, Hülya; Klein-Hitpaß, Ludger; Böhringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cristofoli, Francesca; Czeschik, Johanna Christina; Devriendt, Koenraad; Dotti, Maria Teresa; Elcioglu, Nursel; Gener, Blanca; Goecke, Timm O.; Krajewska-Walasek, Małgorzata; Guillén-Navarro, Encarnación; Hayek, Joussef; Houge, Gunnar; Kilic, Esra; Simsek-Kiper, Pelin Özlem; López-González, Vanesa; Küchler, Alma; Lyonnet, Stanislas; Mari, Francesca; Marozza, Annabella; Dramard, Michèle Mathieu; Mikat, Barbara; Morin, Gilles; Morice-Picard, Fanny; Özkinay, Ferda; Rauch, Anita; Renieri, Alessandra; Tinschert, Sigrid; Eda Utine, G.; Vilain, Catheline; Vivarelli, Rossella; Zweier, Christiane; Nürnberg, Peter; Rahmann, Sven; Vermeesch, Joris; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wollnik, Bernd
    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies abroad molecular and clinical spectrum converging on altered chromatin remodelingremodeling
    In: Human Molecular Genetics Jg. 22 (2013) Nr. 25, S. 5121 - 5135
    Online Volltext: dx.doi.org/
  • Zweier, Christiane; Kraus, Cornelia; Brueton, Louise; Cole, Trevor; Degenhardt, Franziska; Engels, Hartmut; Gillessen-Kaesbach, Gabriele; Graul-Neumann, Luitgard; Horn, Denise; Hoyer, Juliane; Just, Walter; Rauch, Anita; Reis, André; Wollnik, Bernd; Zeschnigk, Michael; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    A new face of Borjeson-Forssman-Lehmann syndrome? : De novo mutations in PHF6 in seven females with a distinct phenotype
    In: Journal of Medical Genetics (eJMG) Jg. 50 (2013) Nr. 12, S. 838 - 847
    Online Volltext: dx.doi.org/
  • Czeschik, Christina; Voigt, C.; Alanay, Y.; Albrecht, Beate; Avci, S.; Fitzpatrick, D.; Goudie, D.R.; Hehr, U.; Hoogeboom, A.J.; Kayserili, H.; Simsek-Kiper, P.O.; Klein-Hitpaß, Ludger; Küchler, Alma; López-González, V.; Martin, M.; Rahmann, Sven; Schweiger, Bernd; Splitt, M.; Wollnik, B.; Lüdecke, Hermann-Josef; Zeschnigk, Michael; Wieczorek, Dagmar
    Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
    In: Human Genetics Jg. 132 (2013) Nr. 8, S. 885 - 898
    Online Volltext: dx.doi.org/
  • Voigt, Claudia; Mégarbané, André; Neveling, Kornelia; Czeschik, Johanna Christina; Albrecht, Beate; Callewaert, Bert; Von Deimling, Florian; Hehr, Andreas; Falkenberg Smeland, Marie; König, Rainer; Küchler, Alma; Marcelis, Carlo; Puiu, Maria; Reardon, Willie; Riise Stensland, Hilde Monica Frostad; Schweiger, Bernd; Steehouwer, Marloes; Teller, Christopher; Martin, Marcel; Rahmann, Sven; Hehr, Ute; Brunner, Han G; Lüdecke, Hermann-Josef; Wieczorek, Dagmar
    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutations
    In: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 110
    Online Volltext: dx.doi.org/ (Open Access)
  • Czeschik, Johanna Christina; Voigt, Claudia; Goecke, Timm O.; Lüdecke, Hermann-Josef; Wagner, Nicholas; Küchler, Alma; Wieczorek, Dagmar
    Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
    In: American Journal of Medical Genetics, Part A Jg. 161 (2013) Nr. 2, S. 295 - 300
    Online Volltext: dx.doi.org/
  • Czeschik, Johanna Christina; Bauer, Peter; Buiting, Karin; Dufke, Claudia; Guillén-Navarro, Encarna; Johnson, Diana S; Koehler, Udo; López-González, Vanesa; Lüdecke, Hermann-Josef; Male, Alison; Morrogh, Deborah; Rieß, Angelika; Tzschach, Andreas; Wieczorek, Dagmar; Küchler, Alma
    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
    In: Orphanet Journal of Rare Diseases Jg. 8 (2013) Nr. 1, S. 146
    Online Volltext: dx.doi.org/ (Open Access)
  • Küchler, Alma; Hentschel, J; Kurth, Isabella; Stephan, B; Prott, E-C; Schweiger, Bernd; Schuster, A; Wieczorek, Dagmar; Lüdecke, Hermann-Josef
    A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
    In: Molecular Syndromology Jg. 3 (2012) Nr. 5, S. 223 - 229
    Online Volltext: dx.doi.org/
  • Beygo, J; Buiting, Karin; Seland, S; Lüdecke, Hermann-Josef; Hehr, U; Lich, C; Prager, B; Lohmann, Dietmar; Wieczorek, Dagmar
    First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome
    In: Molecular Syndromology Jg. 2 (2012) Nr. 2, S. 53 - 59
    Online Volltext: dx.doi.org/
  • Deardorff, Matthew A.; Wilde, Jonathan J.; Albrecht, Melanie; Dickinson, Emma; Tennstedt, Stephanie; Braunholz, Diana; Mönnich, Maren; Yan, Yuqian; Xu, Weizhen; Gil-Rodríguez, María Concepcion; Clark, Dinah; Hakonarson, Hakon; Halbach, Sara; Michelis, Laura Daniela; Rampuria, Abhinav; Rossier, Eva; Spranger, Stephanie; Van Maldergem, Lionel; Lynch, Sally Ann; Gillessen-Kaesbach, Gabriele; Lüdecke, Hermann-Josef; Ramsay, Robert G.; McKay, Michael J.; Krantz, Ian D.; Xu, Huiling; Horsfield, Julia A.; Kaiser, Frank J.
    RAD21 mutations cause a human cohesinopathy
    In: American Journal of Human Genetics Jg. 90 (2012) Nr. 6, S. 1014 - 1027
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • Rué, Marjory; Lüdecke, Hermann-Josef; Sibon, Igor; Richez, Christophe; Taine, Laurence; Foubert-Samier, Alexandra; Arveiler, Benoit; Schaeverbeke, Thierry; Lacombe, Didier; Tison, François; Goizet, Cyril
    Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
    In: European Journal of Medical Genetics (EJMG) Jg. 54 (2011) Nr. 4, S. e405 - e408
    Online Volltext: dx.doi.org/
  • Sendi-Naderi, Aresu; Lüdecke, Hermann-Josef; Unger, Sheila L.; Kern, Johannes Steffen; Wolff, Gerhard; Bruckner-Tuderman, Leena K.; Nashan, Dorothée
    A familial case of tricho-rhino-phalangeal syndrome type III with a novel missense mutation in exon 6 of the TRPS1 gene : Letter to the Editor
    In: Journal of the European Academy of Dermatology and Venereology Jg. 24 (2010) Nr. 5, S. 612 - 614
    Online Volltext: dx.doi.org/
  • Mitter, Diana; Delle Chiaie, Barbara; Lüdecke, Hermann-Josef; Gillessen-Kaesbach, Gabriele; Bohring, Axel; Kohlhase, Jürgen; Caliebe, Almuth; Siebert, Reiner; Röpke, Albrecht; Ramos-Arroyo, Maria A.; Nieva, Beatriz; Menten, Björn; Loeys, Bart; Mortier, Geert; Wieczorek, Dagmar; Chiaie, Barbara Delle
    Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
    In: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 5, S. 1213 - 1224
    Online Volltext: dx.doi.org/
  • Cremer, Kirsten; Lüdecke, Hermann-Josef; Ruhr, Frauke; Wieczorek, Dagmar
    Left-ventricular non-compaction (LVNC) : a clinical feature more often observed in terminal deletion 1p36 than previously expected
    In: European Journal of Medical Genetics (EJMG) Jg. 51 (2008) Nr. 6, S. 685 - 688
    Online Volltext: dx.doi.org/
  • Kantaputra, P.; Miletich, I.; Lüdecke, Hermann-Josef; Suzuki, E. Y.; Praphanphoj, V.; Shivdasani, R.; Wülling, Manuela; Vortkamp, Andrea; Napierala, D.; Sharpe, P. T.
    Tricho-rhino-phalangeal syndrome with supernumerary teeth
    In: Journal of Dental Research: JDR Online Jg. 87 (2008) Nr. 11, S. 1027 - 1031
    Online Volltext: dx.doi.org/

    • Abstracts

  • Jachimowicz, R. D.; Beleggia, F.; Isensee, J.; Velpula, B. B.; Goergens, J.; Bustos, M. A.; Doll, M. A.; Shenoy, A.; Checa-Rodriguez, C.; Wiederstein, J. L.; Baranes-Bachar, K.; Bartenhagen, C.; Hertwig, F.; Teper, N.; Nishi, T.; Schmitt, A.; Distelmaier, F.; Lüdecke, Hermann-Josef; Albrecht, Beate; Krüger, M.; Schumacher, B.; Geiger, T.; Hoon, D. S. B.; Huertas, P.; Fischer, M.; Hucho, T.; Peifer, M.; Ziv, Y.; Reinhardt, H. C.; Wieczorek, Dagmar; Shiloh, Y.;
    UBQLN4 represses homologous recombination and is overexpressed in aggressive tumors
    Jahrestagung der Deutschen, Österreichischen und Schweizerischen Gesellschaften für Hämatologie und Medizinische Onkologie, 11. - 14. Oktober 2019, Berlin, Germany,
    In: Oncology Research and Treatment Jg. 42 (2019) Nr. Supplement 4: Abstracts, S. 25 - 26
    Online Volltext: dx.doi.org/ (Open Access)
  • Ristoska-Bojkovska, Nadica; Tasic, Velibor; Gucev, Zoran; Lozanovski, Vladimir J.; Wieczorek, Dagmar; Lüdecke, Hermann-Josef;
    Tricho-rhino-phalangeal syndrome in girl with chronic renal failure and severe growth deficiency
    15th Congress of the International Pediatric Nephrology Association ; 29 August – 2 September, 2010, New York, NY, USA,
    In: Pediatric Nephrology Jg. 25 (2010) Nr. 9, S. 1919
    Online Volltext: dx.doi.org/