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PD Dr. med. Dagmar Wieczorek

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

Funktionen

  • Privatdozent/in, Institut für Humangenetik

Aktuelle Veranstaltungen

Keine aktuellen Veranstaltungen.

Vergangene Veranstaltungen (max. 10)

Keine vergangenen Veranstaltungen.

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

  • Schlierenkamp, Sarah; Werner, Sandra; Schlesiger, Pauline; Friedrich, Luisa; Abels, Carina; Höfer, Klemens; Best, Dieter; Lubisch, Barbara; Hentschel, Gebhard; Weigel, Franziska; Wieczorek, Dagmar; Marschall, Ursula; Schaff, Christa; Meisel, Bettina; Timmermann, Helene; Neumann, Anja; Walendzik, Anke; Wasem, Jürgen; Neusser, Silke
    Behandlungspfade in der ambulanten Versorgung von Patienten mit Depression : Eine Routinedatenanalyse
    In: Psychiatrische Praxis, Jg. 52, 2025, Nr. 8, S. 442 – 450
    DOI (Open Access)
  • Lessel, Ivana; Baresic, Anja; Chinn, Ivan K.; May, Jonathan; Goenka, Anu; Chandler, Kate E.; Posey, Jennifer E.; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J.; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K.; Gangi, Silvana; George-Abraham, Jaya K.; Gucsavas-Calikoglu, Muge; Haack, Tobias B.; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J.; Jorge, Alexander A.L.; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Kozenko, Mariya; Kubisch, Christian; Kuechler, Alma; Leal, Suzanne M.; Leppälä, Juha; Luu, Sharon M.; Lyon, Gholson J.; Madan-Khetarpal, Suneeta; Mancardi, Margherita; Marchi, Elaine; Mehta, Lakshmi; Menendez, Beatriz; Morel, Chantal F.; Harasink, Sue Moyer; Nevay, Dayna-Lynn; Nigro, Vincenzo; Odent, Sylvie; Oegema, Renske; Pappas, John; Pastore, Matthew T.; Perilla-Young, Yezmin; Platzer, Konrad; Powell-Hamilton, Nina; Rabin, Rachel; Rekab, Aisha; Rezende, Raissa C.; Robert, Leema; Romano, Ferruccio; Scala, Marcello; Poths, Karin; Schrauwen, Isabelle; Sebastian, Jessica; Short, John; Sidlow, Richard; Sullivan, Jennifer; Szakszon, Katalin; Tan, Queenie K.G.; Wagner, Matias; Wieczorek, Dagmar; Yuan, Bo; Maeding, Nicole; Strunk, Dirk; Begtrup, Amber; Banka, Siddharth; Lupski, James R.; Tolosa, Eva; Lessel, Davor; Undiagnosed Diseases Network
    DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
    In: The American Journal of Human Genetics, Jg. 112, 2025, Nr. 2, S. 394 – 413
    DOI (Open Access)
  • Werner, Sandra; Schlierenkamp, Sarah; Zur Nieden, Pauline; Friedrich, Luisa; Abels, Carina; Höfer, Klemens; Walendzik, Anke; Best, Dieter; Lubisch, Barbara; Hentschel, Gebhard; Thumm, Daniel; Wieczorek, Dagmar; Marschall, Ursula; Meisel, Bettina; Schaff, Christa; Timmermann, Helene; Wasem, Jürgen; Neusser, Silke
    Die psychotherapeutische Sprechstunde – Potenzial für eine Steuerungs- und Lotsenfunktion? : Standardisierte Befragung von Psychotherapeut:innen im Kontext des Projektes Eva PT-RL
    In: Psychiatrische Praxis, Jg. 52, 2025, Nr. 7, S. 371 – 378
    DOI (Open Access)
  • 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
    DOI (Open Access)
  • Kampmeier, Antje; Leitão, Elsa; Parenti, Ilaria; Beygo, Jasmin; Depienne, Christel; Bramswig, Nuria C.; Hsieh, Tzung-Chien; Afenjar, Alexandra; Beck-Wödl, Stefanie; Grasshoff, Ute; Haack, Tobias B.; Bijlsma, Emilia K.; Ruivenkamp, Claudia; Lausberg, Eva; Elbracht, Miriam; Haanpää, Maria K.; Koillinen, Hannele; Heinrich, Uwe; Rost, Imma; Jamra, Rami Abou; Popp, Denny; Koch-Hogrebe, Margarete; Rostasy, Kevin; López-González, Vanesa; Sanchez-Soler, María José; Macedo, Catarina; Schmetz, Ariane; Steinborn, Carmen; Weidensee, Sabine; Lesmann, Hellen; Marbach, Felix; Caro, Pilar; Schaaf, Christian P.; Krawitz, Peter; Wieczorek, Dagmar; Kaiser, Frank J.; Kuechler, Alma
    PHIP-associated Chung-Jansen syndrome : Report of 23 new individuals
    In: Frontiers in Cell and Developmental Biology, Jg. 10, 2023, 1020609
    DOI, Online Volltext (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
    DOI (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
    DOI (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, H. 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
    DOI (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
    DOI (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
    DOI (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
    DOI
  • 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
    DOI (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
    DOI (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
    DOI (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
    DOI (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
    DOI (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
    DOI (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
    DOI (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
    DOI, 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
    DOI (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
    DOI
  • 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
    DOI, 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
    DOI (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
    DOI (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
    DOI
  • 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
    DOI (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
    DOI (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
    DOI, 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
    DOI
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    Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome
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    Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
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    The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant
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    Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3 : A recognizable condition
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    Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome
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    De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations
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    Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders
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    Early-Onser Epilepsy and Severe cognitive Impairment in six Patients with the de NOVO P.GLU590LYS Variantof CUX2
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    Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature
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    Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype
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    Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
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    Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism
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    Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes
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    Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
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    New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome
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    Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID
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    A syndrome of microcephaly, short stature, polysyndactyly, and dental anomalies caused by a homozygous KATNB1 mutation
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    ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome
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    Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations
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    De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
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    De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
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    Expanding the clinical spectrum of the 'HDAC8-phenotype' : Implications for molecular diagnostics, counseling and risk prediction
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    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
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    Genome-wide methylation analysis of retrocopy-associated CpG islands and their genomic environment
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    Loss-of-function variants in HIVEP2 are a cause of intellectual disability
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    Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome
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    Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities?
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    X-linked recessive VACTERL-H due to a mutation in FANCB in a preterm boy
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    3p14 deletion is a rare contiguous gene syndrome : Report of 2 new patients and an overview of 14 patients
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    A review of craniofacial disorders caused by spliceosomal defects
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    Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction
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    De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment
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    De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability : expanding the mutational and clinical spectrum
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    Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
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    Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
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    Further delineation of the KAT6B molecular and phenotypic spectrum
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    Infectious and immunologic phenotype of MECP2 duplication syndrome
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    Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
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    RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
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    Reconstruction of images from Gabor graphs with applications in facial image processing
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    Splitting versus lumping : Temple–Baraitser and Zimmermann–Laband syndromes
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    WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
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    A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein–Taybi syndrome
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    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome
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    Classification and visualization based on derived image features : application to genetic syndromes
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    Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome
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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
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    De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
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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
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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
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    Expanding the phenotype of IQSEC2 mutations : Truncating mutations in severe intellectual disability
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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
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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
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    Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome
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    Homozygous truncating PTPRF mutation causes athelia
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    Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) : Review of phenotype associated with KIF11 mutations
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    Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
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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
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    160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker–Warburg syndrome
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    A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies abroad molecular and clinical spectrum converging on altered chromatin remodelingremodeling
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    A new face of Borjeson-Forssman-Lehmann syndrome? : De novo mutations in PHF6 in seven females with a distinct phenotype
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    Behavioral phenotype in five individuals with de novo mutations within the GRIN2B gene
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    Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
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    Effects of RANK-ligand antibody (denosumab) treatment on bone turnover markers in a girl with juvenile paget's disease
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    Human facial dysostoses
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    Integrative analysis revealed the molecular mechanism underlying RBM10-mediated splicing regulation
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    Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome : a study of the extensive clinical variability
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    Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutations
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    Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12
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    Rare Copy Number Variants Are a Common Cause of Short Stature
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    Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9
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    X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity
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    ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
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    A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
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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 SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
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    A mutation screen in patients with Kabuki syndrome
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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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    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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    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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    Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
    In: Nature Genetics, Jg. 42, 2010, Nr. 11, S. 1021 – 1026
    DOI
  • Solomon, Benjamin D.; Lacbawan, Felicitas; Mercier, Sandra; Clegg, Nancy J.; Delgado, Mauricio R.; Rosenbaum, Kenneth; Dubourg, Christèle; David, Veronique; Olney, Ann Haskins; Wehner, Lars-Erik; Hehr, Ute; Bale, Sherri; Paulussen, Aimee; Smeets, Hubert J.; Hardisty, Emily; Tylki-Szymanska, Anna; Pronicka, Ewa; Clemens, Michelle; McPherson, Elizabeth; Hennekam, Raoul C. M.; Hahn, Jin; Stashinko, Elaine; Levey, Eric; Wieczorek, Dagmar; Roeder, Elizabeth; Schell-Apacik, Chayim Can; Booth, Carol W.; Thomas, Ronald L.; Kenwrick, Sue; Cummings, Derek A. T.; Bous, Sophia M.; Keaton, Amelia; Balog, Joan Z.; Hadley, Donald; Zhou, Nan; Long, Robert; Vélez, Jorge I.; Pineda-Alvarez, Daniel E.; Odent, Sylvie; Roessler, Erich; Muenke, Maximilian
    Mutations in ZIC2 in human holoprosencephaly: Description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
    In: Journal of Medical Genetics (eJMG), Jg. 47, 2010, Nr. 8, S. 513 – 524
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI
  • 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
    DOI

    • Abstracts

  • 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. Basingstoke: Nature Publishing Group, Jg. 26, 2019, Nr. Suppl., S. 350
    DOI (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, Hans Christian; 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. Basel: Karger, Jg. 42, 2019, Nr. Supplement 4: Abstracts, S. 25 – 26
    DOI (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. Hoboken: Wiley, Jg. 167, 2015, Nr. 8, S. 1727 – 1728
    DOI
  • 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. Berlin: Springer, Jg. 25, 2010, Nr. 9, S. 1919
    DOI

    • Poster / Posterbeiträge

  • 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
    54th European Society of Human Genetics (ESHG) Conference, August 28-31, 2021, Virtual,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 30, 2022, Nr. Suppl. 1, S. 355 – 356
    Online Volltext (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
    50th European Society of Human Genetics Conference, May 27–30, 2017, Copenhagen, Denmark,
    In: European Journal of Human Genetics. Basingstoke: Nature Publishing Group, Jg. 26, 2019, Nr. Suppl., S. 380 – 381
    DOI (Open Access)