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PD Dr. med. Dagmar Wieczorek

E-Mail
dagmar.wieczorek@uni-due.de

Funktionen

  • Privatdozent/in, 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

  • 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)
  • Platte, Victoria; Bergmann, Anika; Hildebrandt, Barbara; Wieczorek, Dagmar; Schuler, Esther; Germing, Ulrich; Kaivers, Jennifer; Haas, Rainer; Kobbe, Guido; Schroeder, Thomas; Rautenberg, Christina
    Clinical and Cytogenetic Characterization of Early and Late Relapses in Patients Allografted for Myeloid Neoplasms with a Myelodysplastic Component
    In: Cancers Jg. 14 (2022) Nr. 24, 6244
    Online Volltext: dx.doi.org/ (Open Access)
  • Parenti, Ilaria; Mallozzi, Mark B.; Hüning, Irina; Gervasini, Cristina; Küchler, Alma; Agolini, Emanuele; Albrecht, Beate; Baquero-Montoya, Carolina; Bohring, Axel; Bramswig, Nuria C.; Busche, Andreas; Dalski, Andreas; Guo, Yiran; Hanker, Britta; Hellenbroich, Yorck; Horn, Denise; Innes, A. Micheil; Leoni, Chiara; Li, Yun R.; Lynch, Sally Ann; Mariani, Milena; Medne, Livija; Mikat, Barbara; Milani, Donatella; Onesimo, Roberta; Ortiz-Gonzalez, Xilma; Prott, Eva Christina; Reutter, Heiko; Rossier, Eva; Selicorni, Angelo; Wieacker, Peter; Wilkens, Alisha; Wieczorek, Dagmar; Zackai, Elaine H.; Zampino, Giuseppe; Zirn, Birgit; Hakonarson, Hakon; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.
    ANKRD11 variants : KBG syndrome and beyond
    In: Clinical Genetics Jg. 100 (2021) Nr. 2, S. 187 - 200
    Online Volltext: dx.doi.org/ (Open Access)
  • Schmidt, Julia; Goergens, Jonas; Pochechueva, Tatiana; Kotter, Annika; Schwenzer, Niko; Sitte, Maren; Werner, Gesa; Altmüller, Janine; Thiele, Holger; Nürnberg, Peter; Isensee, Jörg; Li, Yun; Müller, Christian; Leube, Barbara; Reinhardt, Christian; Hucho, Tim; Salinas, Gabriela; Helm, Mark; Jachimowicz, Ron D.; Wieczorek, Dagmar; Kohl, Tobias; Lehnart, Stephan E.; Yigit, Gökhan; Wollnik, Bernd
    Biallelic variants in YRDC cause a developmental disorder with progeroid features
    In: Human Genetics Jg. 140 (2021) Nr. 12, S. 1679 - 1693
    Online Volltext: dx.doi.org/ (Open Access)
  • Brock, Stefanie; Vanderhasselt, Tim; Vermaning, Sietske; Keymolen, Kathelijn; Régal, Luc; Romaniello, Romina; Wieczorek, Dagmar; Storm, Tim Matthias; Schaeferhoff, Karin; Hehr, Ute; Küchler, Alma; Krägeloh-Mann, Ingeborg; Haack, Tobias B.; Kasteleijn, Esmee; Schot, Rachel; Mancini, Grazia Maria Simonetta; Webster, Richard; Mohammad, Shekeeb; Leventer, Richard J.; Mirzaa, Ghayda; Dobyns, William B.; Bahi-Buisson, Nadia; Meuwissen, Marije; Jansen, Anna C.; Stouffs, Katrien
    Defining the phenotypical spectrum associated with variants in TUBB2A
    In: Journal of Medical Genetics (eJMG) Jg. 58 (2021) Nr. 1, S. 33 - 40
    Online Volltext: dx.doi.org/ (Open Access)
  • Gangfuß, Andrea; Yigit, Gökhan; Altmüller, Janine; Nürnberg, Peter; Czeschik, Johanna Christina; Wollnik, Bernd; Bögershausen, Nina; Burfeind, Peter; Wieczorek, Dagmar; Kaiser, Frank; Roos, Andreas; Kölbel, Heike; Schara-Schmidt, Ulrike; Küchler, Alma
    Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation : A clinical longitudinal study
    In: American Journal of Medical Genetics, Part A Jg. 185 (2021) Nr. 4, S. 1216 - 1221
    Online Volltext: dx.doi.org/ (Open Access)
  • Mann, Nina; Mzoughi, Slim; Schneider, Ronen; Kühl, Susanne J.; Schanze, Denny; Klämbt, Verena; Lovric, Svjetlana; Mao, Youying; Shi, Shasha; Tan, Weizhen; Kühl, Michael; Onuchic-Whitford, Ana C.; Treimer, Ernestine; Kitzler, Thomas M.; Kause, Franziska; Schumann, Sven; Nakayama, Makiko; Buerger, Florian; Shril, Shirlee; van der Ven, Amelie T.; Majmundar, Amar J.; Holton, Kristina Marie; Kolb, Amy; Braun, Daniela A.; Rao, Jia; Jobst-Schwan, Tilman; Mildenberger, Eva; Lennert, Thomas; Küchler, Alma; Wieczorek, Dagmar; Gross, Oliver; Ermisch-Omran, Beate; Werberger, Anja; Skalej, Martin; Janecke, Andreas R.; Soliman, Neveen A.; Mane, Shrikant M.; Lifton, Richard P.; Kadlec, Jan; Guccione, Ernesto; Schmeisser, Michael J.; Zenker, Martin; Hildebrandt, Friedhelm
    Mutations in PRDM15 are a novel cause of galloway-mowat syndrome
    In: Journal of the American Society of Nephrology (JASN) Jg. 32 (2021) Nr. 3, S. 580 - 596
    Online Volltext: dx.doi.org/ (Open Access)
  • Zhuang, Yuan; Xu, Haifeng C.; Shinde, Prashant V.; Warfsmann, Jens; Vasilevska, Jelena; Sundaram, Balamurugan; Behnke, Kristina; Huang, Jun; Hoell, Jessica I.; Borkhardt, Arndt; Pfeffer, Klaus; Taha, Mohamed S.; Herebian, Diran; Mayatepek, Ertan; Brenner, Dirk; Ahmadian, Mohammad Reza; Keitel, Verena; Wieczorek, Dagmar; Häussinger, Dieter; Pandyra, Aleksandra A.; Lang, Karl S.; Lang, Philipp A.
    Fragile X mental retardation protein protects against tumour necrosis factor-mediated cell death and liver injury
    In: Gut Jg. 69 (2020) Nr. 1, S. 133 - 145
    Online Volltext: dx.doi.org/ (Open Access)
  • Windheuser, Isabelle C.; Becker, Jessica; Cremer, Kirsten; Hundertmark, Hela; Yates, Laura M.; Mangold, Elisabeth; Peters, Sophia; Degenhardt, Franziska; Ludwig, Kerstin U.; Zink, Alexander M.; Lessel, Davor; Bierhals, Tatjana; Herget, Theresia; Johannsen, Jessika; Denecke, Jonas; Wohlleber, Eva; Strom, Tim M.; Wieczorek, Dagmar; Bertoli, Marta; Colombo, Roberto; Hempel, Maja; Engels, Hartmut
    Nine newly identified individuals refine the phenotype associated with MYT1L mutations
    In: American Journal of Medical Genetics, Part A Jg. 182 (2020) Nr. 5, S. 1021 - 1031
    Online Volltext: dx.doi.org/ (Open Access)
  • Richard, Elodie M.; Polla, Daniel L.; Assir, Muhammad Zaman; Contreras, Minerva; Shahzad, Mohsin; Khan, Asma A.; Razzaq, Attia; Akram, Javed; Tarar, Moazzam N.; Blanpied, Thomas A.; Ahmed, Zubair M.; Abou Jamra, Rami; Wieczorek, Dagmar; van Bokhoven, Hans; Riazuddin, Sheikh; Riazuddin, Saima
    Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly
    In: The American Journal of Human Genetics Jg. 105 (2019) Nr. 4, S. 869 - 878
    Online Volltext: dx.doi.org/ (Open Access)
  • Reynhout, Sara; Jansen, Sandra; Haesen, Dorien; van Belle, Siska; de Munnik, Sonja A.; Bongers, Ernie M.H.F.; Schieving, Jolanda H.; Marcelis, Carlo; Amiel, Jeanne; Rio, Marlène; Mclaughlin, Heather; Ladda, Roger; Sell, Susan; Kriek, Marjolein; Peeters-Scholte, Cacha M.P.C.D.; Terhal, Paulien A.; van Gassen, Koen L.; Verbeek, Nienke; Henry, Sonja; Scott Schwoerer, Jessica; Malik, Saleem; Revencu, Nicole; Ferreira, Carlos R.; Macnamara, Ellen; Braakman, Hilde M.H.; Brimble, Elise; Ruznikov, Maura R.Z.; Wagner, Matias; Harrer, Philip; Wieczorek, Dagmar; Küchler, Alma; Tziperman, Barak; Barel, Ortal; de Vries, Bert B.A.; Gordon, Christopher T.; Janssens, Veerle; Vissers, Lisenka E.L.M.
    De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders
    In: The American Journal of Human Genetics Jg. 104 (2019) Nr. 1, S. 139 - 156
    Online Volltext: dx.doi.org/ (Open Access)
  • Hauer, Nadine N.; Popp, Bernt; Taher, Leila; Vogl, Carina; Dhandapany, Perundurai S.; Büttner, Christian; Uebe, Steffen; Sticht, Heinrich; Ferrazzi, Fulvia; Ekici, Arif B.; De Luca, Alessandro; Klinger, Patrizia; Kraus, Cornelia; Zweier, Christiane; Wiesener, Antje; Jamra, Rami Abou; Kunstmann, Erdmute; Rauch, Anita; Wieczorek, Dagmar; Jung, Anna-Marie; Rohrer, Tilman R.; Zenker, Martin; Doerr, Helmuth-Guenther; Reis, André; Thiel, Christian T.
    Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
    In: European Journal of Human Genetics Jg. 27 (2019) Nr. 7, S. 1061 - 1071
    Online Volltext: dx.doi.org/ (Open Access)
  • Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Herwig, Ralf; Hosseini, Masoumeh; Oppitz, Cornelia; Abedini, Seyedeh Sedigheh; Suckow, Vanessa; Larti, Farzaneh; Beheshtian, Maryam; Lipkowitz, Bettina; Akhtarkhavari, Tara; Mehvari, Sepideh; Otto, Sabine; Mohseni, Marzieh; Arzhangi, Sanaz; Jamali, Payman; Mojahedi, Faezeh; Taghdiri, Maryam; Papari, Elaheh; Soltani Banavandi, Mohammad Javad; Akbari, Saeide; Tonekaboni, Seyed Hassan; Dehghani, Hossein; Ebrahimpour, Mohammad Reza; Bader, Ingrid; Davarnia, Behzad; Cohen, Monika; Khodaei, Hossein; Albrecht, Beate; Azimi, Sarah; Zirn, Birgit; Bastami, Milad; Wieczorek, Dagmar; Bahrami, Gholamreza; Keleman, Krystyna; Vahid, Leila Nouri; Tzschach, Andreas; Gärtner, Jutta; Gillessen-Kaesbach, Gabriele; Varaghchi, Jamileh Rezazadeh; Timmermann, Bernd; Pourfatemi, Fatemeh; Jankhah, Aria; Chen, Wei; Nikuei, Pooneh; Kalscheuer, Vera M.; Oladnabi, Morteza; Wienker, Thomas F.; Ropers, Hans-Hilger; Najmabadi, Hossein
    Genetics of intellectual disability in consanguineous families
    In: Molecular Psychiatry Jg. 24 (2019) Nr. 7, S. 1027 - 1039
    Online Volltext: dx.doi.org/ (Open Access)
  • 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: Cytogenetics and Cell Genetics Jg. 159 (2019) S. 1 - 11
    Online Volltext: dx.doi.org/ (Open Access)
  • Kim, Jung-Hyun; Park, Eun Young; Chitayat, David; Stachura, David L.; Schaper, Jörg; Lindstrom, Kristin; Jewett, Tamison; Wieczorek, Dagmar; Draaisma, Jos M.; Sinnema, Margje; Hoeberigs, Christianne; Hempel, Maja; Bachman, Kristine K.; Seeley, Andrea H.; Stone, Joshua K.; Kong, Hyun Kyung; Vukadin, Lana; Richard, Alexander; Shinde, Deepali N.; McWalter, Kirsty; Si, Yue Cindy; Douglas, Ganka; Lim, Ssang-Taek; Vissers, Lisenka E.L.M.; Lemaire, Mathieu; Ahn, Eun-Young Erin
    SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes
    In: Kidney International (2019)
    Online Volltext: dx.doi.org/ Online Volltext (Open Access)
  • 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)
  • 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: Cytogenetics and Cell Genetics Jg. 156 (2018) Nr. 1, S. 9 - 13
    Online Volltext: dx.doi.org/
  • 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)
  • Hauer, Nadine N.; Popp, Bernt; Schoeller, Eva; Schuhmann, Sarah; Heath, Karen E.; Hisado-Oliva, Alfonso; Klinger, Patricia; Kraus, Cornelia; Trautmann, Udo; Zenker, Martin; Zweier, Christiane; Wiesener, Antje; Abou Jamra, Rami; Kunstmann, Erdmute; Wieczorek, Dagmar; Uebe, Steffen; Ferrazzi, Fulvia; Büttner, Christian; Ekici, Arif B.; Rauch, Anita; Sticht, Heinrich; Dörr, Helmuth-Günther; Reis, André; Thiel, Christian T.
    Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
    In: Genetics in Medicine Jg. 20 (2018) Nr. 6, S. 630 - 638
    Online Volltext: dx.doi.org/ (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)
  • Fritzen, Daniel; Küchler, Alma; Grimmel, Mona; Becker, Jessica; Peters, Sophia; Sturm, Marc; Hundertmark, Hela; Schmidt, Axel; Kreiß, Martina; Strom, Tim M.; Wieczorek, Dagmar; Haack, Tobias B.; Beck-Wödl, Stefanie; Cremer, Kirsten; Engels, Hartmut
    De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies
    In: Human Genetics Jg. 137 (2018) Nr. 5, S. 401 - 411
    Online Volltext: dx.doi.org/
  • Krämer, Markus; Huynh, Quoc Bao; Wieczorek, Dagmar; Balliu, Brunilda; Mikat, Barbara; Boehringer, Stefan
    Distinctive facial features in idiopathic Moyamoya disease in Caucasians : A first systematic analysis
    In: PeerJ Jg. 2018 (2018) Nr. 6, e4740
    Online Volltext: dx.doi.org/ (Open Access)
  • Meester, Josephina A.N.; Sukalo, Maja; Schröder, Kim C.; Schanze, Denny; Baynam, Gareth; Borck, Guntram; Bramswig, Nuria C.; Duman, Duygu; Gilbert-Dussardier, Brigitte; Holder-Espinasse, Muriel; Itin, Peter; Johnson, Diana S.; Joss, Shelagh; Koillinen, Hannele; Mckenzie, Fiona; Morton, Jenny; Nelle, Heike; Reardon, Willie; Roll, Claudia; Salih, Mustafa A.; Savarirayan, Ravi; Scurr, Ingrid; Splitt, Miranda; Thompson, Elizabeth; Titheradge, Hannah; Travers, Colm P.; Van Maldergem, Lionel; Whiteford, Margo; Wieczorek, Dagmar; Vandeweyer, Geert; Trembath, Richard; Van Laer, Lut; Loeys, Bart L.; Zenker, Martin; Southgate, Laura; Wuyts, Wim
    Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort
    In: Human Mutation Jg. 39 (2018) Nr. 9, S. 1246 - 1261
    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)
  • Laugwitz, Lucia; Redler, Silke; Buchert, Rebecca; Sturm, Marc; Zeile, Irene; Schara, Ulrike; Wieczorek, Dagmar; Haack, Tobias; Distelmaier, Felix
    Isolated PREPL deficiency associated with congenital myasthenic syndrome-22
    In: Klinische Pädiatrie Jg. 230 (2018) Nr. 5, S. 281 - 283
    Online Volltext: dx.doi.org/
  • 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)
  • Chatron, Nicolas; Møller, Rikke S.; Champaigne, Neena L.; Schneider, Amy L.; Küchler, Alma; Labalme, Audrey; Simonet, Thomas; Baggett, Lauren; Bardel, Claire; Kamsteeg, Erik-Jan; Pfundt, Rolph; Romano, Corrado; Aronsson, Johan; Alberti, Antonino; Vinci, Mirella; Miranda, Maria J.; Lacroix, Amy; Marjanovic, Dragan; des Portes, Vincent; Edery, Patrick; Wieczorek, Dagmar; Gardella, Elena; Scheffer, Ingrid E.; Mefford, Heather; Sanlaville, Damien; Carvill, Gemma L.; Lesca, Gaetan
    The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
    In: Annals of Neurology Jg. 83 (2018) Nr. 5, S. 926 - 934
    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)
  • Kasper, Burkhard S.; Dörfler, Arnd; Di Donato, Nataliya; Kasper, Ekkehard M.; Wieczorek, Dagmar; Hoyer, Juliane; Zweier, Christiane
    Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome
    In: Epilepsy and Behavior Jg. 69 (2017) S. 104 - 109
    Online Volltext: dx.doi.org/
  • 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/
  • Reuter, Miriam S.; Tawamie, Hasan; Buchert, Rebecca; Gebril, Ola Hosny; Froukh, Tawfiq; Thiel, Christian; Uebe, Steffen; Ekici, Arif B.; Krumbiegel, Mandy; Zweier, Christiane; Hoyer, Juliane; Eberlein, Karolin; Bauer, Judith; Scheller, Ute; Strom, Tim M.; Hoffjan, Sabine; Abdelraouf, Ehab R.; Meguid, Nagwa A.; Abboud, Ahmad; Al Khateeb, Mohammed Ayman; Fakher, Mahmoud; Hamdan, Saber; Ismael, Amina; Muhammad, Safia; Abdallah, Ebtessam; Sticht, Heinrich; Wieczorek, Dagmar; Reis, André; Jamra, Rami Abou
    Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders
    In: JAMA Psychiatry Jg. 74 (2017) Nr. 3, S. 293 - 299
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  • Chatron, N.; Moller, R. S.; Champaigne, N. L.; Küchler, Alma; Labalme, A.; Baggett, L.; Wieczorek, Dagmar; Portes, D. V.; Edery, P.; Gardella, E.; Scheffer, I. E.; Mefford, H.; Sanlaville, D.; Carvill, G. L.; Lesca, G.
    Early-Onser Epilepsy and Severe cognitive Impairment in six Patients with the de NOVO P.GLU590LYS Variantof CUX2
    In: Epilepsia Jg. 58 (2017) Nr. Suppl. 5, S. S65
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  • Hauer, Nadine N.; Sticht, Heinrich; Boppudi, Sangamitra; Büttner, Christian; Kraus, Cornelia; Trautmann, Udo; Zenker, Martin; Zweier, Christiane; Wiesener, Antje; Jamra, Rami Abou; Wieczorek, Dagmar; Kelkel, Jaqueline; Jung, Anna-Maria; Uebe, Steffen; Ekici, Arif. B; Rohrer, Tilman; Reis, André; Dörr, Helmuth-Günther; Thiel, Christian T.
    Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
    In: Scientific Reports Jg. 7 (2017) S. 12225
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  • 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
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  • 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
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  • 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
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  • Deardorff, Matthew A.; Kaiser, Frank J.; Parenti, Ilaria; Pozojevic, Jelena; Teresa-Rodrigo, María E.; Ozkinay, Ferda; Larizza, Lidia; Rittinger, Olaf; Wollnik, Bernd; Bader, Ingrid; Pié, Juan; Pfeiffer, Lutz; Reiz, Benedikt; Baquero-Montoya, Carolina; Wendt, Kerstin; Ruiz Gil, Sara; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Watrin, Erwan; Ramos, Feliciano; Strom, Tim M.; Gervasini, Cristina; Bramswig, Nuria C.; Braunholz, Diana
    Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
    In: Human Genetics Jg. 136 (2017) Nr. 3, S. 307 - 320
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  • Meyer, Esther; Carss, Keren J.; Rankin, Julia; Nichols, John M. E.; Grozeva, Detelina; Joseph, Agnel P.; Mencacci, Niccolo E.; Papandreou, Apostolos; Ng, Joanne; Barral, Serena; Ngoh, Adeline; Ben-Pazi, Hilla; Willemsen, Michel A.; Arkadir, David; Barnicoat, Angela; Bergman, Hagai; Bhate, Sanjay; Boys, Amber; Darin, Niklas; Foulds, Nicola; Gutowski, Nicholas; Hills, Alison; Houlden, Henry; Hurst, Jane A.; Israel, Zvi; Kaminska, Margaret; Limousin, Patricia; Lumsden, Daniel; McKee, Shane; Misra, Shibalik; Mohammed, Shekeeb S.; Nakou, Vasiliki; Nicolai, Joost; Nilsson, Magnus; Pall, Hardev; Peall, Kathryn J.; Peters, Gregory B.; Prabhakar, Prab; Reuter, Miriam S.; Rump, Patrick; Segel, Reeval; Sinnema, Margje; Smith, Martin; Turnpenny, Peter; White, Susan M.; Wieczorek, Dagmar; Wiethoff, Sarah; Wilson, Brian T.; Winter, Gidon; Wragg, Christopher; Pope, Simon; Heales, Simon J. H.; Morrogh, Deborah; Pittman, Alan; Carr, Lucinda J.; Perez-Duenãs, Belen; Lin, Jean-Pierre; Reis, Andre; Gahl, William A.; Toro, Camilo; Bhatia, Kailash P.; Wood, Nicholas W.; Kamsteeg, Erik-Jan; Chong, Wui K.; Gissen, Paul; Topf, Maya; Dale, Russell C.; Chubb, Jonathan R.; Raymond, F. Lucy; Kurian, Manju A.
    Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
    In: Nature Genetics Jg. 49 (2017) Nr. 2, S. 223 - 237
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  • 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
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  • 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
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  • Yigit, Gökhan; Wollnik, Bernd; Nürnberg, Peter; Thiele, Holger; Altmüller, Janine; Möller-Hartmann, Claudia; Beleggia, Filippo; Bögershausen, Nina; Wieczorek, Dagmar
    A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
    In: American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics Jg. 170 (2016) Nr. 3, S. 728 - 733
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  • Zak, J.; Vives, V.; Szumska, D.; Vernet, A.; Schneider, J.E.; Miller, P.; Slee, E.A.; Joss, S.; Lacassie, Y.; Chen, E.; Escobar, L.F.; Tucker, M.; Aylsworth, A.S.; Dubbs, H.A.; Collins, A.T.; Andrieux, J.; Dieux-Coeslier, A.; Haberlandt, E.; Kotzot, D.; Scott, D.A.; Parker, M.J.; Zakaria, Z.; Choy, Y.S.; Wieczorek, Dagmar; Innes, A.M.; Jun, K.R.; Zinner, S.; Prin, F.; Lygate, C.A.; Pretorius, P.; Rosenfeld, J.A.; Mohun, T.J.; Lu, X.
    ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
    In: Cell Death and Differentiation Jg. 23 (2016) Nr. 12, S. 1973 - 1984
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  • Rudnik-Schöneborn, Sabine; Deden, Florian; Eggermann, Katja; Eggermann, Thomas; Wieczorek, Dagmar; Sellhaus, Bernd; Yamoah, Alfred; Goswami, Anand; Claeys, Kristl G.; Weis, Joachim; Zerres, Klaus
    Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
    In: Muscle and Nerve Jg. 54 (2016) Nr. 3, S. 496 - 500
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  • Petrovski, Slavé; Stumpel, Connie T.R.M.; McWalter, Kirsty; Owen, Laurie B.; Myers, Richard M.; MacArthur, Daniel G.; Lessel, Davor; Tang, Sha; Shinde, Deepali N.; Seeley, Andrea H.; de Vries, Bert B.A.; Draaisma, Jos M.; Vogt, Julie; Santoro, Stephanie L.; Belmonte, Rebecca L.; Zhang, Dong-Er; Funari, Tara; Stachura, David L.; Nicolai, Joost; Begtrup, Amber; Brunner, Han G.; Stegmann, Alexander P.A.; Yntema, Helger G.; Schoch, Kelly; Wieczorek, Dagmar; Douglas, Ganka; Vissers, Lisenka E.L.M.; Traver, David; Hempel, Maja; Sinnema, Margje; Shashi, Vandana; Bubulya, Paula A.; Rohena, Luis; Laccone, Franco A.; Gordon, Christopher T.; Jewett, Tamison; El-Khechen, Dima; Hauser, Natalie S.; Kim, Jung-Hyun; Rehder, Helga; Yao, Xu; Reijnders, Margot R.F.; Veltman, Joris A.; Strom, Tim M.; Bosch, Daniëlle G.M.; Lindstrom, Kristin; Stevens, Servi J.C.; Wilson, Gregory R.; Turner, Clesson; Baskin, Berivan; Cho, Megan T.; Behunova, Jana; Neu, Axel; Park, Eun Young; Kortüm, Fanny; Krokosky, Alyson; Bachman, Kristine K.; Bramswig, Nuria; Stone, Joshua K.; Ahn, Eun-Young Erin; Romana, Serge; Rio, Marlène; Mancini, Grazia M.; Lim, Ssang-Taek
    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
    In: The American Journal of Human Genetics Jg. 99 (2016) S. 711 - 719
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  • Schäfgen, Johanna; Cremer, Kirsten; Becker, Jessica; Wieland, Thomas; Zink, Alexander M.; Kim, Sarah; Windheuser, Isabelle C.; Kreiß, Martina; Aretz, Stefan; Strom, Tim M.; Wieczorek, Dagmar; Engels, Hartmut
    De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
    In: European Journal of Human Genetics Jg. 24 (2016) Nr. 12, S. 1739 - 1745
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  • 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
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  • Ansari, Morad; Hertz, Jens Michael; Kohlhase, Juergen; Wieczorek, Dagmar; Willoughby, Colin E.; Stewart, Fiona; Taylor, David S.; Lorenz, Birgit; Franco, Brunella; Fantes, Judy; Meire, Francoise; Bitoun, Pierre; Dollfus, Helene; Clayton-Smith, Jill; Sandilands, Angela; Harewood, Louise; Sharkey, Freddie; Williamson, Kathleen A.; Hanson, Isabel M.; Rainger, Jacqueline
    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
    In: PLoS ONE Jg. 11 (2016) Nr. 4, S. e0153757
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  • 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
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  • Srivastava, Siddharth; Cohen, Julie; Gupta, Siddharth; Zenker, Martin; Wieczorek, Dagmar; Biskup, Saskia; Schubach, Max; Menzel, Moritz; Wieland, Thomas; Cremer, Kirsten; Schanze, Ina; Engels, Hartmut
    Loss-of-function variants in HIVEP2 are a cause of intellectual disability
    In: European Journal of Human Genetics Jg. 24 (2016) Nr. 4, S. 556 - 561
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  • 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
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  • Hackmann, Karl; Rump, Andreas; Haas, Stefan A.; Lemke, Johannes R.; Fryns, Jean-Pierre; Tzschach, Andreas; Wieczorek, Dagmar; Albrecht, Beate; Küchler, Alma; Ripperger, Tim; Kobelt, Albrecht; Oexle, Konrad; Tinschert, Sigrid; Schrock, Evelin; Kalscheuer, Vera M.; Di Donato, Nataliya
    Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?
    In: American Journal of Medical Genetics, Part A Jg. 170 (2016) Nr. 1, S. 94 - 102
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  • Mikat, Barbara; Roll, Claudia; Schindler, Detlev; Gembruch, Ulrich; Klempert, Iris; Buiting, Karin; Bramswig, Nuria C.; Wieczorek, Dagmar
    X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy
    In: Clinical Dysmorphology Jg. 25 (2016) Nr. 2, S. 73 - 76
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  • Dimitrov, B. I.; Ogilvie, C.; Wieczorek, Dagmar; Wakeling, E.; Sikkema-Raddatz, Birgit; van Ravenswaaij-Arts, Conny M. A.; Josifova, Dragana
    3p14 deletion is a rare contiguous gene syndrome : Report of 2 new patients and an overview of 14 patients
    In: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 6, S. 1223 - 1230
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  • Lehalle, Daphné; Wieczorek, Dagmar; Zechi-Ceide, Roseli Maria Aria; Passos-Bueno, Maria Rita Santos; Lyonnet, Stanislas L.; Amiel, Jeanne P.; Gordon, Christopher T.
    A review of craniofacial disorders caused by spliceosomal defects
    In: Clinical Genetics Jg. 88 (2015) Nr. 5, S. 405 - 415
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  • Weaver, K. Nicole; Noack Watt, Kristin E.; Hufnagel, Robert B.; Navajas Acedo, Joaquin; Linscott, Luke L.; Sund, Kristen L.; Bender, Patricia L.; König, Rainer; Lourenco, Charles M.; Hehr, Ute; Hopkin, Robert J.; Lohmann, Dietmar; Trainor, Paul A.; Wieczorek, Dagmar; Saal, Howard M.
    Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction
    In: The American Journal of Human Genetics Jg. 96 (2015) Nr. 5, S. 765 - 774
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  • Hempel, Maja; Cremer, Kirsten; Ockeloen, Charlotte W.; Lichtenbelt, Klaske D.; Herkert, Johanna C.; Denecke, Jonas; Haack, Tobias B.; Zink, Alexander M.; Becker, Jessica; Wohlleber, Eva; Johannsen, Jessika; Alhaddad, Bader; Pfundt, Rolph; Fuchs, Sigrid; Wieczorek, Dagmar; Strom, Tim M.; van Gassen, Koen L.I.; Kleefstra, Tjitske; Kubisch, Christian; Engels, Hartmut; Lessel, Davor
    De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment
    In: American journal of human genetics Jg. 97 (2015) Nr. 3, S. 493 - 500
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  • 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
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  • Haack, Tobias B; Jackson, Christopher B; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M; Alston, Charlotte L; Taylor, Robert W; Rodenburg, Richard J; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M; Hoffmann, Georg F; Mayr, Johannes A; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger; Klopstock, Thomas
    Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
    In: Annals of Clinical and Translational Neurology Jg. 2 (2015) Nr. 5, S. 492 - 509
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  • 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
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  • Gannon, Tamsin; Perveen, Rahat; Schlecht, Hélene; Ramsden, Simon; Anderson, Beverley; Kerr, Bronwyn; Day, Ruth; Banka, Siddharth; Suri, Mohnish; Berland, Siren; Gabbett, Michael; Ma, Alan; Lyonnet, Stan; Cormier-Daire, Valerie; Yilmaz, Rüstem; Borck, Guntram; Wieczorek, Dagmar; Anderlid, Britt-Marie; Smithson, Sarah; Vogt, Julie; Moore-Barton, Heather; Simsek-Kiper, Pelin Ozlem; Maystadt, Isabelle; Destrée, Anne; Bucher, Jessica; Angle, Brad; Mohammed, Shehla; Wakeling, Emma; Price, Sue; Singer, Amihood; Sznajer, Yves; Toutain, Annick; Haye, Damien; Newbury-Ecob, Ruth; Fradin, Melanie; McGaughran, Julie; Tuysuz, Beyhan; Tein, Mark; Bouman, Katelijne; Dabir, Tabib; Van den Ende, Jenneke; Luk, Ho Ming; Pilz, Daniela T; Eason, Jacqueline; Davies, Sally; Reardon, Willie; Garavelli, Livia; Zuffardi, Orsetta; Devriendt, Koen; Armstrong, Ruth; Johnson, Diana; Doco-Fenzy, Martine; Bijlsma, Emilia; Unger, Sheila; Veenstra-Knol, Hermine E; Kohlhase, Jürgen; Lo, Ivan F M; Smith, Janine; Clayton-Smith, Jill
    Further delineation of the KAT6B molecular and phenotypic spectrum
    In: European Journal of Human Genetics Jg. 23 (2015) Nr. 9, S. 1165 - 1170
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  • Bauer, Michael; Kölsch, Uwe; Krüger, Renate; Unterwalder, Nadine; Hameister, Karin; Kaiser, Fabian Marc; Vignoli, Aglaia; Rossi, Rainer; Botella, Maria Pilar; Budisteanu, Magdalena; Rosello, Monica; Orellana, Carmen; Tejada, Maria Isabel; Papuc, Sorina Mihaela; Patat, Oliver; Julia, Sophie; Touraine, Renaud; Gomes, Thusari; Wenner, Kirsten; Xu, Xiu; Afenjar, Alexandra; Toutain, Annick; Philip, Nicole; Jezela-Stanek, Aleksandra; Gortner, Ludwig; Martinez, Francisco; Echenne, Bernard; Wahn, Volker; Meisel, Christian; Wieczorek, Dagmar; El-Chehadeh, Salima; Van Esch, Hilde; von Bernuth, Horst
    Infectious and immunologic phenotype of MECP2 duplication syndrome
    In: Journal of Clinical Immunology Jg. 35 (2015) Nr. 2, S. 168 - 181
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  • 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
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  • Bögershausen, Nina; Tsai, I-Chun; Pohl, Esther; Kiper, Pelin Özlem Simsek; Beleggia, Filippo; Percin, E. Ferda; Keupp, Katharina; Matchan, Angela; Milz, Esther; Alanay, Yasemin; Kayserili, Hülya; Liu, Yicheng; Banka, Siddharth; Kranz, Andrea; Zenker, Martin; Wieczorek, Dagmar; Elcioglu, Nursel; Prontera, Paolo; Lyonnet, Stanislas; Meitinger, Thomas; Francis Stewart, A.; Donnai, Dian; Strom, Tim M.; Boduroglu, Koray; Yigit, Gökhan; Li, Yun; Katsanis, Nicholas; Wollnik, Bernd
    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
    In: The Journal of Clinical Investigation (JCI) Jg. 125 (2015) Nr. 9, S. 3585 - 3599
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  • Günther, Manuel; Böhringer, Stefan; Wieczorek, Dagmar; Würtz, Rolf P.
    Reconstruction of images from Gabor graphs with applications in facial image processing
    In: International Journal of Wavelets, Multiresolution and Information Processing Jg. 13 (2015) Nr. 4, S. 1550019
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  • 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
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  • Vodopiutz, Julia; Seidl, Rainer; Prayer, Daniela; Khan, M. Imran; Mayr, Johannes A.; Streubel, Berthold; Steiß, Jens-Oliver; Hahn, Andreas; Csaicsich, Dagmar; Castro, Christel; Assoum, Mirna; Müller, Thomas; Wieczorek, Dagmar; Mancini, Grazia M. S.; Sadowski, Carolin E.; Lévy, Nicolas; Mégarbané, André; Godbole, Koumudi; Schanze, Denny; Hildebrandt, Friedhelm; Delague, Valérie; Janecke, Andreas R.; Zenker, Martin
    WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
    In: Human mutation Jg. 36 (2015) Nr. 11, S. 1021 - 1028
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  • 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
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  • Schaefer, Elise; Collet, Corinne; Genevieve, David; Vincent, Marie; Lohmann, Dietmar; Sanchez, Elodie; Bolender, Chantal; Eliot, Marie-Madeleine; Nürnberg, Gudrun; Passos-Bueno, Maria-Rita; Wieczorek, Dagmar; van Maldergem, Lionel; Doray, Bérénice
    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome
    In: Genetics in Medicine Jg. 16 (2014) Nr. 9, S. 720 - 724
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  • 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
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  • 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
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  • Campeau, Philippe M.; Hennekam, Raoul C.; Aftimos, A.; Banka, S.; Begleiter, M.L.; Bilo, L.; Blair, E.; Burrage, L.C.; Liu, D.S.; De Bie, I.; Félix, T.M.; Giltay, J.C.; Gibbs, R.A.; Giuliano, F.; Hadzsiev, K.; Hori, M.; Kariminejad, A.; Kayserili, H.; Kerr, B.; Lee, B.H.; Lu, J.T.; Male, A.; Meenakshi, G.; Mey, A.; Murray, M.L.; Nair, L.D.V.; Nampoothiri, S.; Newman, W.G.; Peluso, S.; Peters, H.; Powell, R.; Repetto, G.M.; Rump, P.; Santos-Simarro, F.; Stewart, F.; Van Bever, Y.; Van Den Ende, J.; Wieczorek, Dagmar; Wisniewska, M.; Sisodiya, S.M.
    DOORS syndrome : phenotype, genotype and comparison with coffin-siris syndrome
    In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Jg. 166 (2014) Nr. 3, S. 327 - 332
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  • Mirzaa, Ghayda M; Parry, David A; Fry, Andrew E; Giamanco, Kristin A; Schwartzentruber, Jeremy; Vanstone, Megan; Logan, Clare V.; Roberts, Nicola; Johnson, Colin A.; Singh, Shawn; Kholmanskikh, Stanislav S.; Adams, Carissa; Hodge, Rebecca D.; Hevner, Robert F.; Bonthron, David T.; Braun, Kees P J; Faivre, Laurence; Rivière, Jean-Baptiste; St-Onge, Judith; Gripp, Karen W.; Mancini, Grazia M S; Pang, Ki; Sweeney, Elizabeth; van Esch, Hilde; Verbeek, Nienke; Wieczorek, Dagmar; Steinraths, Michelle; Majewski, Jacek; Boycott, Kim M.; Pilz, Daniela T.; Ross, Elizabeth; Dobyns, William B.; Sheridan, Eamonn G.; Friedman, J.; Michaud, J.; Bernier, F.; Brudno, M.; Fernandez, B.; Knoppers, B.; Samuels, M.; Scherer, S.
    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
    In: Nature Genetics Jg. 46 (2014) Nr. 5, S. 510 - 515
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  • Horn, Denise; Wieczorek, Dagmar; Metcalfe, Kay; Barić, Ivo; Paležac, Lidija; Ćuk, Mario; Petković Ramadža, Danijela; Krüger, Ulrike; Demuth, Stephanie; Heinritz, Wolfram; Linden, Tobias; Koenig, Jens; Robinson, Peter N.; Krawitz, Peter
    Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
    In: European Journal of Human Genetics Jg. 22 (2014) Nr. 6, S. 762 - 767
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  • von der Hagen, Maja; Pivarcsi, Mark; Liebe, J.; von Bernuth, Horst; Didonato, Nataliya; Hennermann, Julia B.; Bührer, Christoph; Wieczorek, Dagmar; Kaindl, Angela M.
    Diagnostic approach to microcephaly in childhood: A two-center study and review of the literature
    In: Developmental Medicine and Child Neurology Jg. 56 (2014) Nr. 8, S. 732 - 741
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  • Mau-Them, Frederic Tran; Willems, Marjolaine; Albrecht, Beate; Sanchez, Elodie; Puechberty, Jacques; Endele, Sabine; Schneider, Anouck; Pallares, Nathalie Ruiz; Missirian, Chantal; Rivier, Francois; Girard, Manon; Holder, Muriel; Manouvrier, Sylvie; Touitou, Isabelle; Lefort, Genevieve; Sarda, Pierre; Moncla, Anne; Drunat, Severine; Wieczorek, Dagmar; Genevieve, David
    Expanding the phenotype of IQSEC2 mutations : Truncating mutations in severe intellectual disability
    In: European Journal of Human Genetics Jg. 22 (2014) Nr. 2, S. 289 - 292
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  • Murray, Jennie E.; Bicknell, Louise S.; Yigit, Gökhan; Duker, Angela L.; van Kogelenberg, Margriet; Haghayegh, Sara; Wieczorek, Dagmar; Kayserili, Hülya; Albert, Michael H.; Wise, Carol A.; Brandon, January; Kleefstra, Tjitske; Warris, Adilia; van der Flier, Michiel; Bamforth, J. Steven; Doonanco, Kurston; Adès, Lesley; Ma, Alan; Field, Michael; Johnson, Diana; Shackley, Fiona; Firth, Helen; Woods, C. Geoffrey; Nürnberg, Peter; Gatti, Richard A.; Hurles, Matthew; Bober, Michael B.; Wollnik, Bernd; Jackson, Andrew P.
    Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
    In: Human Mutation Jg. 35 (2014) Nr. 1, S. 76 - 85
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  • Zweier, Christiane; Rittinger, Olaf; Bader, Ingrid; Berland, Siren; Cole, Trevor; Degenhardt, Franziska; Di Donato, Nataliya; Graul-Neumann, Luitgard; Hoyer, Juliane; Lynch, Sally Ann; Vlasak, Ingrid; Wieczorek, Dagmar
    Females with de novo aberrations in PHF6 : clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome
    In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics Jg. 166 (2014) Nr. 3, S. 290 - 301
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  • Ehmke, Nadja; Caliebe, Almuth; Koenig, Rainer; Kant, Sarina G.; Stark, Zornitza L.; Cormier-Dairé, Valérie; Wieczorek, Dagmar; Gillessen- Kaesbach, Gabriele; Hoff, Kirstin; Kawalia, Amit; Thiele, Holger; Altmüller, Janine; Fischer-Zirnsak, Björn; Knaus, Alexej; Zhu, Na; Heinrich, Verena; Huber, Céline; Harabula, Izabela; Spielmann, Malte; Horn, Denise; Kornak, Uwe; Hecht, Jochen E.; Krawitz, Peter M.; Nürnberg, Peter; Siebert, Reiner; Manzke, Hermann; Mundlos, Stefan
    Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome
    In: American journal of human genetics Jg. 95 (2014) Nr. 6, S. 763 - 770
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  • Borck, Guntram; Vries, Liat de; Wu, Hsin-Jung; Smirin-Yosef, Pola; Nürnberg, Gudrun; Lagovsky, Irina; Ishida, Luis Henrique; Thierry, Patrick; Wieczorek, Dagmar; Nürnberg, Peter; Foley, John; Kubisch, Christian; Basel-Vanagaite, Lina
    Homozygous truncating PTPRF mutation causes athelia
    In: Human Genetics Jg. 133 (2014) Nr. 8, S. 1041 - 1047
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  • Jones, Gabriela E.; Ostergaard, Pia; Moore, Anthony T.; Connell, Fiona C.; Williams, Denise; Quarrell, Oliver; Brady, Angela F.; Spier, Isabel; Hazan, Filiz; Moldovan, Oana; Wieczorek, Dagmar; Mikat, Barbara; Petit, Florence; Coubes, Christine; Saul, Robert A.; Brice, Glen; Gordon, Kristiana; Jeffery, Steve; Mortimer, Peter S.; Vasudevan, Pradeep C.; Mansour, Sahar
    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) : Review of phenotype associated with KIF11 mutations
    In: European Journal of Human Genetics Jg. 22 (2014) Nr. 7, S. 881 - 887
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  • Acuna-Hidalgo, Rocio; Schanze, Denny; Kariminejad, Ariana; Nordgren, Ann; Kariminejad, Mohamad Hasan; Conner, Peter; Grigelioniene, Giedre; Nilsson, Daniel; Nordenskjöld, Magnus; Wedell, Anna; Freyer, Christoph; Wredenberg, Anna; Wieczorek, Dagmar; Gillessen-Kaesbach, Gabriele; Kayserili, Hülya; Elcioglu, Nursel; Ghaderi-Sohi, Siavash; Goodarzi, Payman; Setayesh, Hamidreza; van de Vorst, Maartje; Steehouwer, Marloes; Pfundt, Rolph; Krabichler, Birgit; Curry, Cynthia; MacKenzie, Malcolm G; Boycott, Kym M; Gilissen, Christian; Janecke, Andreas R; Hoischen, Alexander; Zenker, Martin
    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
    In: The American Journal of Human Genetics Jg. 95 (2014) Nr. 3, S. 285 - 293
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  • Campeau, P. M.; Kasperaviciute, D.; Lu, J. T.; Burrage, L. C.; Kim, C.; Hori, M.; Powell, B. R.; Stewart, F.; Félix, T. M.; van~den~Ende,~J.; Wisniewska, M.; Kayserili, H.; Rump, P.; Nampoothiri, S.; Aftimos, S.; Mey, A.; Nair,~L.~D.~V.; Begleiter, M. L.; Bie, I. de; Meenakshi, G.; Murray, M. L.; Repetto, G. M.; Golabi, M.; Blair, E.; Male, A.; Giuliano, F.; Kariminejad, A.; Newman, W. G.; Bhaskar, S. S.; Dickerson, J. E.; Kerr, B.; Banka, S.; Giltay, J. C.; Wieczorek, Dagmar; Tostevin, A.; Wiszniewska, J.; Cheung, S. W.; Hennekam, R. C.; Gibbs, R. A.; Lee, B. H.; Sisodiya, S. M.
    The genetic basis of DOORS syndrome : An exome-sequencing study
    In: The Lancet Neurology Jg. 13 (2014) Nr. 1, S. 44 - 58
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  • 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
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  • 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
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  • 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
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  • Freunscht, Inga; Popp, Bernt; Blank, Rainer; Endele, Sabine; Moog, Ute; Petri, Holger; Prott, Eva-Christina; Reis, Andre; Rübo, Jochen; Zabel, Bernhard; Zenker, Martin; Hebebrand, Johannes; Wieczorek, Dagmar
    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
    In: Behavioral and Brain Functions Jg. 9 (2013) Nr. 1, S. 20
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  • 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
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  • Grasemann, Corinna; Schündeln, Michael; Hövel, Matthias; Schweiger, Bernd; Bergmann, Christoph; Herrmann, Ralf; Wieczorek, Dagmar; Zabel, Bernhard; Wieland, Regina; Hauffa, Berthold
    Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile paget's disease
    In: The Journal of Clinical Endocrinology & Metabolism (JCEM) Jg. 98 (2013) Nr. 8, S. 3121 - 3126
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  • Wieczorek, Dagmar
    Human facial dysostoses
    In: Clinical Genetics Jg. 83 (2013) Nr. 6, S. 499 - 510
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  • Wang, Yongbo; Gogol-Döring, Andreas; Hu, Hao; Fröhler, Sebastian; Ma, Yunxia; Jens, Marvin; Maaskola, Jonas; Murakawa, Yasuhiro; Quedenau, Claudia; Landthaler, Markus; Kalscheuer, Vera; Wieczorek, Dagmar; Wang, Yang; Hu, Yuhui; Chen, Wei
    Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation
    In: EMBO Molecular Medicine Jg. 5 (2013) Nr. 9, S. 1431 - 1442
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  • Bisschoff, Izak J.; Zeschnigk, Christine; Horn, Denise; Wellek, Brigitte; Rieß, Angelika; Wessels, Maja; Willems, Patrick; Jensen, Peter; Busche, Andreas; Bekkebraten, Jens; Chopra, Maya; Hove, Hanne Dahlgaard; Evers, Christina; Heimdal, Ketil; Kaiser, Ann-Sophie; Kunstmann, Erdmut; Robinson, Kristina Lagerstedt; Linné, Maja; Martin, Patricia; McGrath, James; Pradel, Winnie; Prescott, Katrina E; Roesler, Bernd; Rudolf, Gorazd; Siebers-Renelt, Ulrike; Tyshchenko, Nataliya; Wieczorek, Dagmar; Wolff, Gerhard; Dobyns, William B.; Morris-Rosendahl, Deborah J.
    Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome : a study of the extensive clinical variability
    In: Human mutation: variation, databases, and disease Jg. 34 (2013) Nr. 1, S. 237 - 247
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  • 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
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  • Goubau, Christophe; Devriendt, Koen; Van der Aa, Nathalie; Crepel, An; Wieczorek, Dagmar; Kleefstra, Tjitske; Willemsen, Marjolein H; Rauch, Anita; Tzschach, Andreas; de Ravel, Thomy; Leemans, Peter; Van Geet, Chris; Buyse, Gunnar; Freson, Kathleen
    Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12
    In: European Journal of Human Genetics Jg. 21 (2013) Nr. 12, S. 1349 - 1355
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  • Zahnleiter, Diana; Uebe, Steffen; Ekici, Arif B; Hoyer, Juliane; Wiesener, Antje; Wieczorek, Dagmar; Kunstmann, Erdmute; Reis, André; Doerr, Helmuth-Guenther; Rauch, Anita; Thiel, Christian T
    Rare Copy Number Variants Are a Common Cause of Short Stature
    In: PLoS Genetics Jg. 9 (2013) Nr. 3, S. e1003365
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  • 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
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  • 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
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  • Zariwala, Maimoona A.; Gee, Heon Yung; Kurkowiak, Małgorzata; Al-Mutairi, Dalal A.; Leigh, Margaret W.; Hurd, Toby W.; Hjeij, Rim; Dell, Sharon D.; Chaki, Moumita; Dougherty, Gerard W.; Adan, Mohamed; Spear, Philip C.; Esteve-Rudd, Julian; Loges, Niki T.; Rosenfeld, Margaret; Diaz, Katrina A.; Olbrich, Heike; Wolf, Whitney E.; Sheridan, Eamonn; Batten, Trevor F.C.; Halbritter, Jan; Porath, Jonathan D.; Kohl, Stefan; Lovric, Svjetlana; Hwang, Daw-Yang; Pittman, Jessica E.; Burns, Kimberlie A.; Ferkol, Thomas W.; Sagel, Scott D.; Olivier, Kenneth N.; Morgan, Lucy C.; Werner, Claudius; Raidt, Johanna; Pennekamp, Petra; Sun, Zhaoxia; Zhou, Weibin; Airik, Rannar; Natarajan, Sivakumar; Allen, Susan J.; Amirav, Israel; Wieczorek, Dagmar; Landwehr, Kerstin; Nielsen, Kim; Schwerk, Nicolaus; Sertic, Jadranka; Köhler, Gabriele; Washburn, Joseph; Levy, Shawn; Fan, Shuling; Koerner-Rettberg, Cordula; Amselem, Serge; Williams, David S.; Mitchell, Brian J.; Drummond, Iain A.; Otto, Edgar A.; Omran, Heymut; Knowles, Michael R.; Hildebrandt, Friedhelm
    ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
    In: American Journal of Human Genetics Jg. 93 (2013) Nr. 2, S. 336 - 345
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  • 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
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  • Huang, Lingli; Jolly, Lachlan A.; Willis-Owen, Saffron; Gardner, Alison; Kumar, Raman; Douglas, Evelyn; Shoubridge, Cheryl; Wieczorek, Dagmar; Tzschach, Andreas; Cohen, Monika; Hackett, Anna; Field, Michael; Froyen, Guy; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Corbett, Mark A.; Gecz, Jozef; Jolly, Lachlan A.; Haas, Stefan A.; Kalscheuer, Vera M.; Corbett, Mark A.
    A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
    In: American Journal of Human Genetics Jg. 91 (2012) Nr. 4, S. 694 - 702
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  • Longoni, Mauro; Lage, Kasper; Russell, Meaghan K.; Loscertales, Maria; Abdul-Rahman, Omar A.; Baynam, Gareth; Bleyl, Steven B.; Brady, Paul D.; Breckpot, Jeroen; Chen, Chih P.; Devriendt, Koenraad; Gillessen-Kaesbach, Gabriele; Grix, Arthur W.; Rope, Alan F.; Shimokawa, Osamu; Strauss, Bernarda; Wieczorek, Dagmar; Zackai, Elaine H.; Coletti, Caroline M.; Maalouf, Faouzi I.; Noonan, Kristin M.; Park, Ji H.; Tracy, Adam A.; Lee, Charles; Donahoe, Patricia K.; Pober, Barbara R.
    Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks
    In: American Journal of Medical Genetics, Part A Jg. 158 A (2012) Nr. 12, S. 3148 - 3158
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  • 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
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    Haploinsufficiency of ARID1B, a member of the SWI/SNF-A chromatin-remodeling complex, is a frequent cause of intellectual disability
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    Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly
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    Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
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    Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
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    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
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    Mutations in NSUN2 cause autosomal- Recessive intellectual disability
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    Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
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    Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability : An exome sequencing study
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    Treacher Collins syndrome : clinical implications for the paediatrician—a new mutation in a severely affected newborn and comparison with three further patients with the same mutation, and review of the literature
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    A mutation screen in patients with Kabuki syndrome
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    Altered Development of NKT Cells, γδ T Cells, CD8 T Cells and NK Cells in a PLZF Deficient Patient
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    Automated syndrome detection in a set of clinical facial photographs
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    Autosomal recessive mental retardation : Homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
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    Bohring-Opitz (Oberklaid-Danks) syndrome : Clinical study, review of the literature, and discussion of possible pathogenesis
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    CEP152 is a genome maintenance protein disrupted in Seckel syndrome
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    Cohen syndrome diagnosis using whole genome arrays
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    De novo MECP2 duplication in two females with random X-inactivation and moderate mental retardation
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    De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome
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    Deep sequencing reveals 50 novel genes for recessive cognitive disorders
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    Five patients with novel overlapping interstitial deletions in 8q22.2q22.3
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    Genetic determination of human facial morphology : Links between cleft-lips and normal variation
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    Hallermann-Streiff Syndrome : No Evidence for a Link to Laminopathies
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    Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice
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    Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
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    Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome
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    Parental origin and functional relevance of a de novo UBE3A variant
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    Syndrome mit dem Leitsymptom Großwuchs
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    The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
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    A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner Mesomelic Syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb
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    Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome
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    FOXL2 copy number changes in the molecular pathogenesis of BPES : uniquecCohort of 17 deletions
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    Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1
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    Molecular and clinical analysis ofRAF1in Noonan syndrome and related disorders : dephosphorylation of serine 259 as the essential mechanism for mutant activation
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    Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
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    Mutations in ZIC2 in human holoprosencephaly: Description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
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  • Allanson, Judith E.; Bohring, Axel; Dorr, Helmuth-Guenther; Dufke, Andreas; Gillessen-Kaesbach, Gabrielle; Horn, Denise; König, Rainer; Kratz, Christian P.; Kutsche, Kerstin; Pauli, Silke; Raskin, Salmo; Rauch, Anita; Turner, Anne; Wieczorek, Dagmar; Zenker, Martin
    The face of Noonan syndrome : Does phenotype predict genotype
    In: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 8, S. 1960 - 1966
    Online Volltext: dx.doi.org/
  • Bartsch, Oliver; Labont́e, Janette; Albrecht, Beate; Wieczorek, Dagmar; Lechno, Stanislav; Zechner, Ulrich; Haaf, Thomas
    Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
    In: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 1, S. 181 - 184
    Online Volltext: dx.doi.org/
  • 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 (eJMG) Jg. 45 (2008) Nr. 11, S. 731 - 737
    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/
  • Klinge, Lars; Schaper, J.; Wieczorek, Dagmar; Voit, Thomas
    Microlissencephaly in microcephalic osteodysplastic primordial dwarfism : a case report and review of the literature
    In: Neuropediatrics Jg. 33 (2002) Nr. 6, S. 309 - 313
    Online Volltext: dx.doi.org/

    • Abstracts

  • Lopez Gonzalez, Vanesa; Ballesta-Martinez, Mary; Sanchez-Soler, Jose M.; Serrano-Anton, Ana Teresa; Glover-Lopez, Guillermo; Ezquieta-Zubicaray, Begona; Küchler, Alma; Albrecht, Beate; Wieczorek, Dagmar; Zorio, Esther; Lissewski, Christina; Zenker, Martin; Guillen-Navarro, Encarna
    Clinical and molecular characterization of a group of Spanish and German patients with Noonan syndrome
    In: European Journal of Human Genetics Jg. 30 (2022) Nr. Suppl. 1, S. 355 - 356
  • Cremer, K.; Windheuser, I.; Becker, J.; Wieland, T.; Zink, A.; Help, H.; Degenhardt, F.; Mangold, E.; Wieczorek, Dagmar; Engels, H.
    De novo mutations of MYT1L in individuals with intellectual disability
    In: European Journal of Human Genetics Jg. 26 (2019) Nr. Suppl., S. 350
    Online Volltext: dx.doi.org/ (Open Access)
  • Chatron, N.; Moller, R.S.; Champaigne, N.L.; Küchler, Alma; Labalme, A.; Baggett, L.; Wieczorek, Dagmar; Gardella, E.; Scheffer, I.A.
    Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2
    In: European Journal of Human Genetics Jg. 26 (2019) Nr. Suppl., S. 380 - 381
    Online Volltext: dx.doi.org/ (Open Access)
  • 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)
  • Weaver, K. N.; Watt, K. E. N.; Sund, K. L.; Hufnagel, R. B.; Bender, T.; Hopkin, R. J.; Lohmann, Dietmar; Wieczorek, Dagmar; Trainor, P. A.; Saal, H. M.;
    A new mandibulofacial dysostosis syndrome caused by a mutation of POLR1A
    35th Annual David W Smith Workshop on Malformations and Morphogenesis, 25–30 July 2014, Madison, Wisconsin,
    In: American Journal of Medical Genetics, Part A Jg. 167 (2015) Nr. 8, S. 1727 - 1728
    Online Volltext: dx.doi.org/
  • 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/