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

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  • 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
  • Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Küchler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann-Josef; Guida, Valentina; Krumbiegel, Mandy; Lonardo, Fortunato; Novelli, Antonio; Albrecht, Beate; Perria, Chiara; Scarano, Gioacchino; Spielmann, Malte; Nardone, Annamaria M.; Battaglia, Agatino; Brancati, Francesco; Bernardini, Laura
    Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes
    In: Clinical Genetics Jg. 96 (2019) Nr. 3, S. 246 - 253
  • 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
  • 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
  • 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
  • Gillessen-Kaesbach, Gabriele; Albrecht, Beate; Eggermann, Thomas; Elbracht, Miriam; Mitter, Diana; Morlot, Susanne; van Ravenswaaij-Arts, Conny; Schulz, Solveig; Strobl-Wildemann, Gertrud; Buiting, Karin; Beygo, Jasmin
    Molecular and clinical studies in 8 patients with Temple syndrome
    In: Clinical Genetics Jg. 93 (2018) Nr. 6, S. 1179 - 1188
  • 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
  • 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
  • Syrbe, Steffen; Harms, Frederike L.; Parrini, Elena; Montomoli, Martino; Mütze, Ulrike; Helbig, Katherine L.; Polster, Tilman; Albrecht, Beate; Bernbeck, Ulrich; Van Binsbergen, Ellen; Biskup, Saskia; Burglen, Lydie; Denecke, Jonas; Heron, Bénédicte; Heyne, Henrike O.; Hoffmann, Georg F.; Hornemann, Frauke; Matsushige, Takeshi; Matsuura, Ryuki; Kato, Mitsuhiro; Korenke, G. Christoph; Küchler, Alma; Lämmer, Constanze; Merkenschlager, Andreas; Mignot, Cyril; Ruf, Susanne; Nakashima, Mitsuko; Saitsu, Hirotomo; Stamberger, Hannah; Pisano, Tiziana; Tohyama, Jun; Weckhuysen, Sarah; Werckx, Wendy; Wickert, Julia; Mari, Francesco; Verbeek, Nienke E.; Møller, Rikke S.; Koeleman, Bobby; Matsumoto, Naomichi; Dobyns, William B.; Lemke, Johannes R.; Kutsche, Kerstin; Battaglia, Domenica; Guerrini, Renzo
    Delineating SPTAN1 associated phenotypes : From isolated epilepsy to encephalopathy with progressive brain atrophy
    In: Brain: A Journal of Neurology Jg. 140 (2017) Nr. 9, S. 2322 - 2336
  • 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
  • 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
  • Eggermann, Thomas; Oehl-Jaschkowitz, Barbara; Dicks, Severin; Thomas, Wolfgang; Kanber, Deniz; Albrecht, Beate; Begemann, Matthias; Kurth, Ingo; Beygo, Jasmin; Buiting, Karin
    The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype” : result of placental trisomy 6 mosaicism?
    In: Molecular Genetics & Genomic Medicine Jg. 5 (2017) Nr. 6, S. 668 - 677
  • Jerber, Julie; Zaki, Maha S.; Al-Aama, Jumana Y.; Rosti, Rasim Ozgur; Ben-Omran, Tawfeg; Dikoglu, Esra; Silhavy, Jennifer L.; Caglar, Caner; Musaev, Damir; Albrecht, Beate; Campbell, Kevin P.; Willer, Tobias; Almuriekhi, Mariam; Çağlayan, Ahmet Okay; Vajsar, Jiri; Bilgüvar, Kaya; Ogur, Gonul; Abou Jamra, Rami; Günel, Murat; Gleeson, Joseph G.
    Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly
    In: American Journal of Human Genetics Jg. 99 (2016) Nr. 5, S. 1181 - 1189
  • Hempel, Annmarie; Kühl, Susanne; Sohal, Aman Singh; Albrecht, Beate; Matsumoto, Naomichi; Kou, Ikuyo; Mansour, Sahar; Blyth, Moira; Pagnamenta, Alistair T
    Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
    In: Journal of medical genetics Jg. 53 (2016) Nr. 3, S. 152 - 162
  • 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
  • Verloes, Alain; Di Donato, Nataliya; Masliah-Planchon, Julien; Jongmans, Marjolijn; Abdul-Raman, Omar; Albrecht, Beate; Allanson, Judith; Brunner, Han; Bertola, Debora; Chassaing, Nicolas; David, Albert; Devriendt, Koen; Eftekhari, Pirayeh; Drouin-Garraud, Valérie; Faravelli, Francesca; Faivre, Laurence; Giuliano, Fabienne; Guion Almeida, Leina; Juncos, Jorge; Kempers, Marlies; Eker, Hatice Koçak; Lacombe, Didier; Lin, Angela; Mancini, Grazia; Melis, Daniela; Lourenço, Charles Marques; Siu, Victoria Mok; Morin, Gilles; Nezarati, Marjan; Nowaczyk, Malgorzata J M; Ramer, Jeanette C; Osimani, Sara; Philip, Nicole; Pierpont, Mary Ella; Procaccio, Vincent; Roseli, Zeichi-Seide; Rossi, Massimiliano; Rusu, Cristina; Sznajer, Yves; Templin, Ludivine; Uliana, Vera; Klaus, Mirjam; Van Bon, Bregje; Van Ravenswaaij, Conny; Wainer, Bruce; Fry, Andrew E; Rump, Andreas; Hoischen, Alexander; Drunat, Séverine; Rivière, Jean-Baptiste; Dobyns, William B; Pilz, Daniela T
    Baraitser-Winter cerebrofrontofacial syndrome : Delineation of the spectrum in 42 cases
    In: European Journal of Human Genetics Jg. 23 (2015) Nr. 3, S. 292 - 301
  • 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
  • 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
  • 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
  • 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
  • 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
  • Malik, Sajid; Percin, Ferda E.; Bornholdt, Dorothea; Albrecht, Beate; Percesepe, Antonio; Koch, Manuela C.; Landi, Antonio; Fritz, Barbara; Khan, Rizwan; Mumtaz, Sara; Akarsu, Nurten A.; Grzeschik, Karl H.
    Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, malik-percin type
    In: American journal of human genetics Jg. 95 (2014) Nr. 6, S. 649 - 659
  • 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
  • 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
  • Weckhuysen, Sarah; Ivanovic, Vanja; Hendrickx, Rik; Van Coster, Rudy; Hjalgrim, Helle; Møller, Rikke S.; Grønborg, Sabine; Schoonjans, An-Sofie; Ceulemans, Berten; Heavin, Sinead B.; Eltze, Christin; Horvath, Rita; Casara, Gianluca; Pisano, Tiziana; Giordano, Lucio; Rostasy, Kevin; Haberlandt, Edda; Albrecht, Beate; Bevot, Andrea; Benkel, Ira; Syrbe, Steffan; Sheidley, Beth; Guerrini, Renzo; Poduri, Annapurna; Lemke, Johannes R.; Mandelstam, Simone; Scheffer, Ingrid; Angriman, Marco; Striano, Pasquale; Marini, Carla; Suls, Arvid; De Jonghe, Peter
    Extending the KCNQ2 encephalopathy spectrum : Clinical and neuroimaging findings in 17 patients
    In: Neurology Jg. 81 (2013) Nr. 19, S. 1697 - 1703
  • Guilherme, R.S.; Klein, E.; Hamid, A.B.; Bhatt, S.; Volleth, M.; Polityko, A.; Kulpanovich, A.; Dufke, A.; Albrecht, Beate; Morlot, S.; Brecevic, L.; Petersen, M.B.; Manolakos, E.; Kosyakova, N.; Liehr, T.
    Human Ring Chromosomes – New Insights for their Clinical Significance
    In: Balkan Journal of Medical Genetics Jg. 16 (2013) Nr. 1, S. 13 - 20
  • 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
  • Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; Hurst, Jane; Kini, Usha; Nowaczyk, Malgorzata J; Afenjar, Alexandra; Albrecht, Beate; Allanson, Judith E; Balestri, Paolo; Ben-Omran, Tawfeg; Brancati, Francesco; Cordeiro, Isabel; da Cunha, Bruna Santos; Delaney, Louisa A; Destrée, Anne; Fitzpatrick, David; Forzano, Francesca; Ghali, Neeti; Gillies, Greta; Harwood, Katerina; Hendriks, Yvonne M; Héron, Delphine; Hoischen, Alexander; Honey, Engela Magdalena; Hoefsloot, Lies H; Ibrahim, Jennifer; Jacob, Claire M; Kant, Sarina G; Kim, Chong Ae; Kirk, Edwin P; Knoers, Nine V; Lacombe, Didier; Lee, Chung; Lo, Ivan F; Lucas, Luiza S; Mari, Francesca; Mericq, Veronica; Moilanen, Jukka S; Møller, Sanne Traasdahl; Moortgat, Stephanie; Pilz, Daniela T; Pope, Kate; Price, Susan; Renieri, Alessandra; Sá, Joaquim; Schoots, Jeroen; Silveira, Elizabeth L; Simon, Marleen E; Slavotinek, Anne; Temple, I Karen; van der Burgt, Ineke; de Vries, Bert B; Weisfeld-Adams, James D; Whiteford, Margo L; Wierczorek, Dagmar; Wit, Jan M; Yee, Connie Fung; Beaulieu, Chandree L; White, Sue M; Bulman, Dennis E; Bongers, Ernie; Brunner, Han; Feingold, Murray; Boycott, Kym M
    The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
    In: Orphanet Journal of Rare Diseases Jg. 8 (2013) S. 63
  • Rivière, Jean-Baptiste; Mirzaa, Ghayda M.; O'Roak, Brian J.; Beddaoui, Margaret; Alcantara, Diana; Conway, Robert L.; St.-Onge, Judith; Schwartzentruber, Jeremy A.; Gripp, Karen W.; Nikkel, Sarah M.; Worthylake, Thea; Sullivan, Christopher T.; Ward, Thomas R.; Butler, Hailly E.; Kramer, Nancy A.; Albrecht, Beate; Armour, Christine M.; Armstrong, Linlea; Caluseriu, Oana; Cytrynbaum, Cheryl; Drolet, Beth A.; Innes, A. Micheil; Lauzon, Julie L.; Lin, Angela E.; Mancini, Grazia M. S.; Meschino, Wendy S.; Reggin, James D.; Saggar, Anand K.; Lerman-Sagie, Tally; Uyanik, Gökhan; Weksberg, Rosanna; Zirn, Birgit; Beaulieu, Chandree L.; Majewski, Jacek; Bulman, Dennis E.; O'Driscoll, Mark; Shendure, Jay; Graham, John M.; Boycott, Kym M.; Dobyns, William B.
    De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
    In: Nature Genetics Jg. 44 (2012) Nr. 8, S. 934 - 940
  • Eggermann, T; Spengler, S; Begemann, M; Binder, G; Buiting, Karin; Albrecht, Beate; Spranger, S
    Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver-Russell syndrome features.
    In: Clinical Genetics Jg. 81 (2012) Nr. 3, S. 298 - 300
  • Nagy, R.; Wang, H.; Albrecht, Beate; Wieczorek, Dagmar; Gillessen-Kaesbach, G.; Haan, E.; Meinecke, P.; de la Chapelle, A.; Westman, J.A.
    Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene
    In: Clinical Genetics Jg. 82 (2012) Nr. 2, S. 140 - 146
  • Hood, Rebecca L.; Lines, Matthew A.; Nikkel, Sarah M.; Schwartzentruber, Jeremy; Beaulieu, Chandree; Nowaczyk, Małgorzata J.M.; Allanson, Judith; Kim, Chong Ae; Wieczorek, Dagmar; Moilanen, Jukka S.; Lacombe, Didier; Gillessen-Kaesbach, Gabriele; Whiteford, Margo L.; Quaio, Caio Robledo D.C.; Gomy, Israel; Bertola, Debora R.; Albrecht, Beate; Platzer, Konrad; McGillivray, George; Zou, Ruobing; McLeod, D. Ross; Chudley, Albert E.; Chodirker, Bernard N.; Marcadier, Janet; Majewski, Jacek; Bulman, Dennis E.; White, Susan M.; Boycott, Kym M.
    Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
    In: American Journal of Human Genetics, The (AJHG) Jg. 90 (2012) Nr. 2, S. 308 - 313
  • Allanson, J.; Smith, A.; Hare, H.; Albrecht, Beate; Bijlsma, E.; Dallapiccola, B.; Donti, E.; Fitzpatrick, D.; Isidor, B.; Lachlan, K.; Le Caignec, C.; Prontera, P.; Raas-Rothschild, A.; Rogaia, D.; van Bon, B.; Aradhya, S.; Crocker, S. F.; Jarinova, O.; McGowan-Jordan, J.; Boycott, K.; Bulman, D.; Fagerberg, C. R.
    Nablus mask-like facial syndrome : deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype
    In: American Journal of Medical Genetics, Part A Jg. 158 (2012) Nr. 9, S. 2091 - 2099
  • Rauch, Anita; Wieczorek, Dagmar; Graf, Elisabeth; Wieland, Thomas; Endele, Sabine; Schwarzmayr, Thomas; Albrecht, Beate; Bartholdi, Deborah; Beygo, Jasmin; Di Donato, Nataliya; Dufke, Andreas; Cremer, Kirsten; Hempel, Maja; Horn, Denise; Hoyer, Juliane; Joset, Pascal; Röpke, Albrecht; Moog, Ute; Riess, Angelika; Thiel, Christian T.; Tzschach, Andreas; Wiesener, Antje; Wohlleber, Eva; Zweier, Christiane; Ekici, Arif B.; Zink, Alexander M.; Rump, Andreas; Meisinger, Christa; Grallert, Harald; Sticht, Heinrich; Schenck, Annette; Engels, Hartmut; Rappold, Gudrun; Schröck, Evelin; Wieacker, Peter; Riess, Olaf; Meitinger, Thomas; Reis, André; Strom, Tim M.
    Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability : An exome sequencing study
    In: The Lancet Jg. 380 (2012) Nr. 9854, S. 1674 - 1682
  • Ghani-Kakhki, M.; Robinson, P. N.; Morlot, S.; Mitter, Diana; Trimborn, M.; Albrecht, Beate; Varon, R.; Sperling, K.; Neitzel, Heidemarie
    Two missense mutations in the primary autosomal recessive microcephaly gene MCPH1 disrupt the function of the highly conserved n-terminal BRCT domain of microcephalin
    In: Molecular Syndromology Jg. 3 (2012) Nr. 1, S. 6 - 13
  • Li, Yun; Bögershausen, Nina; Alanay, Yasemin; Simsek Kiper, Pelin Özlem; Plume, Nadine; Keupp, Katharina; Pohl, Esther; Pawlik, Barbara; Rachwalski, Martin; Milz, Esther; Thoenes, Michaela; Albrecht, Beate; Prott, Eva-Christina; Lehmkühler, Margret; Demuth, Stephanie; Utine, Gülen Eda; Boduroglu, Koray; Frankenbusch, Katja; Borck, Guntram; Gillessen-Kaesbach, Gabriele; Yigit, Gökhan; Wieczorek, Dagmar; Wollnik, Bernd
    A mutation screen in patients with Kabuki syndrome
    In: Human Genetics Jg. 130 (2011) Nr. 6, S. 715 - 724
  • Rivera-Brugués, Nuria; Albrecht, Beate; Wieczorek, Dagmar; Schmidt, Heinrich; Keller, Thomas; Göhring, Ina; Ekici, Arif B.; Tzschach, Andreas; Garshasbi, Masoud; Franke, Kathlen; Klopp, Norman; Wichmann, H-Erich; Meitinger, Thomas; Strom, Tim M.; Hempel, Maja; Wichmann, H.-E.
    Cohen syndrome diagnosis using whole genome arrays
    In: Journal of Medical Genetics (eJMG) Jg. 48 (2011) Nr. 2, S. 136 - 140
  • Gregor, Anne; Albrecht, Beate; Bader, Ingrid; Bijlsma, Emilia K.; Ekici, Arif B.; Engels, Hartmut; Hackmann, Karl; Horn, Denise; Hoyer, Juliane; Klapecki, Jakub; Kohlhase, Jürgen; Maystadt, Isabelle; Nagl, Sandra; Prott, Eva; Tinschert, Sigrid; Ullmann, Reinhard; Wohlleber, Eva; Woods, Geoffrey; Reis, André; Rauch, Anita; Zweier, Christiane
    Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
    In: BMC Medical Genetics Jg. 12 (2011) S. 106
  • Reuss, A; Gerlach, H; Bedow, W; Landt; Kuhn, Ulrich; Stein, Anja; Reschke, M.; Albrecht, Beate; Westrich, V; Trawicki, W; Eiben, B
    Monozygotic twins discordant for trisomy 18
    In: Ultrasound in Obstetrics & Gynecology Jg. 38 (2011) Nr. 6, S. 727 - 728
  • He, Huiling; Liyanarachchi, Sandya; Akagi, Keiko; Nagy, Rebecca; Li, Jingfeng; Dietrich, Rosemary C.; Li, Wei; Sebastian, Nikhil; Wen, Bernard; Xin, Baozhong; Singh, Jarnail; Yan, Pearlly; Alder, Hansjuerg; Haan, Eric; Wieczorek, Dagmar; Albrecht, Beate; Puffenberger, Erik; Wang, Heng; Westman, Judith A.; Padgett, Richard A.; Symer, David E.; De La Chapelle, Albert
    Mutations in U4atac snRNA, a Component of the Minor Spliceosome, in the Developmental Disorder MOPD I
    In: Science Jg. 332 (2011) Nr. 6026, S. 238 - 240
  • Callewaert, Bert; Renard, Marjolijn; Hucthagowder, Vishwanathan; Albrecht, Beate; Hausser, Ingrid; Blair, Edward; Dias, Cristina; Albino, Alice; Wachi, Hiroshi; Sato, Fumiaki; Mecham, Robert P.; Loeys, Bart; Coucke, Paul J.; De Paepe, Anne; Urban, Zsolt
    New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
    In: Human Mutation Jg. 32 (2011) Nr. 4, S. 445 - 455
  • Albayrak, Özgür; Albrecht, Beate; Scherag, Susann; Barth, Nikolaus; Hinney, Anke; Hebebrand, Johannes
    Successful methylphenidate treatment of early onset extreme obesity in a child with a melanocortin-4 receptor gene mutation and attention deficit/hyperactivity disorder
    In: European Journal of Pharmacology Jg. 660 (2011) Nr. 1, S. 165 - 170
  • Küchler, Alma; Hauffa, Berthold; Köninger, Angela; Kleinau, Gunnar; Albrecht, Beate; Horsthemke, Bernhard; Gromoll, Jörg
    An unbalanced translocation unmasks a recessive mutation in the follicle-stimulating hormone receptor (FSHR) gene and causes FSH resistance
    In: European Journal of Human Genetics Jg. 18 (2010) Nr. 6, S. 656 - 661
  • Iqbal, Zafar; Cejudo-Martin, Pilar; de Brouwer, Arjan; van der Zwaag, Bert; Ruiz-Lozano, Pilar; Scimia, M. Cecilia; Lindsey, James D.; Weinreb, Robert; Albrecht, Beate; Megarbane, Andre; Alanay, Yasemin; Ben-Neriah, Ziva; Amenduni, Mariangela; Artuso, Rosangela; Veltman, Joris A.; van Beusekom, Ellen; Oudakker, Astrid; Millán, José Luis; Hennekam, Raoul; Hamel, Ben; Courtneidge, Sara A.; van Bokhoven, Hans
    Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome
    In: American Journal of Human Genetics Jg. 86 (2010) Nr. 2, S. 254 - 261
  • Albrecht, Beate; Brouwer, Arjan P. de; Lefeber, Dirk J.; Cremer, Kirsten; Hausser, Ingrid; Rossen, Nick; Wortmann, Saskia B.; Wevers, Ron A.; Kornak, Uwe; Morava, Eva
    MACS syndrome : A combined collagen and elastin disorder due to abnormal Golgi trafficking : Letter to the editor
    In: American Journal of Medical Genetics, Part A Jg. 152 (2010) Nr. 11, S. 2916 - 2918
  • Albrecht, Beate; Buiting, Karin
    Prader-Willi-Syndrom und Angelman-Syndrom
    In: Medizinische Genetik Jg. 22 (2010) Nr. 4, S. 392 - 398
  • 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
  • Schollen, E.; Grünewald, S.; Keldermans, L.; Albrecht, Beate; Körner, C.; Matthijs, G.
    CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter)
    In: European Journal of Medical Genetics (EJMG) Jg. 48 (2005) Nr. 2, S. 153 - 158
  • 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
  • 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