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LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort Reytan Miron, Sivan; Kurolap, Alina; Abu-Libdeh, Bassam; Abu-Libdeh, Abdel Salam; Velmans, Clara; Erger, Florian; Riehmer, Vera; Hsieh, Tzung-Chien; Lesmann, Hellen; Reches, Adi; Chai Gadot, Chofit; Mory, Adi; Al-Ashhab, Motee; Netzer, Christian; Damseh, Nadirah; Baris Feldman, Hagit Share Save
ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches Karakaya, Mert; Ragab, Iman; Riehmer, Vera; Erger, Florian; Aly, Nihal Hussien; Ryu, Seung Woo; Seo, Go Hun; Hoemberg, Marc; Schultheis, Anne Maria; Netzer, Christian; Decarolis, Boris Share Save
NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy Birtel, Johannes; Spital, Georg; Book, Marius; Habbig, Sandra; Baeumner, Soeren; Riehmer, Vera; Beck, Bodo B.; Rosenkranz, David; Bolz, Hanno J.; Dahmer-Heath, Mareike; Herrmann, Philipp; Koenig, Jens; Issa, Peter Charbel Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E. Share Save
Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations Kosfeld, Anne; Brand, Frank; Weiss, Anna-Carina; Kreuzer, Martin; Goerk, Michaela; Martens, Helge; Schubert, Stephanie; Schaefer, Anne-Kathrin; Riehmer, Vera; Hennies, Imke; Braesen, Jan Hinrich; Pape, Lars; Amann, Kerstin; Krogvold, Lars; Bjerre, Anna; Daniel, Christoph; Kispert, Andreas; Haffner, Dieter; Weber, Ruthild G. Share Save
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 Boegershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Huelya; Becker, Jutta; Thoenes, Michaela; Simsek-Kiper, Pelin OEzlem; Barat-Houari, Mouna; Elcioglu, Nursel H.; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M.; Fabre, Aurelie; Baynam, Gareth; Sanchez, Elodie; Nuernberg, Gudrun; Altunoglu, Umut; Capri, Yline; Isidor, Bertrand; Lacombe, Didier; Corsini, Carole; Cormier-Daire, Valerie; Sanlaville, Damien; Giuliano, Fabienne; Le Quan Sang, Kim-Hanh; Kayirangwa, Honorine; Nuernberg, Peter; Meitinger, Thomas; Boduroglu, Koray; Zoll, Barbara; Lyonnet, Stanislas; Tzschach, Andreas; Verloes, Alain; Di Donato, Nataliya; Touitou, Isabelle; Netzer, Christian; Li, Yun; Genevieve, David; Yigit, Goekhan; Wollnik, Bernd Share Save
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) Kosfeld, Anne; Kreuzer, Martin; Daniel, Christoph; Brand, Frank; Schaefer, Anne-Kathrin; Chadt, Alexandra; Weiss, Anna-Carina; Riehmer, Vera; Jeanpierre, Cecile; Klintschar, Michael; Braesen, Jan Hinrich; Amann, Kerstin; Pape, Lars; Kispert, Andreas; Al-Hasani, Hadi; Haffner, Dieter; Weber, Ruthild G. Share Save
Molecular classification of diffuse cerebral WHO grade II/III gliomas using genome- and transcriptome-wide profiling improves stratification of prognostically distinct patient groups Weller, Michael; Weber, Ruthild G.; Willscher, Edith; Riehmer, Vera; Hentschel, Bettina; Kreuz, Markus; Felsberg, Joerg; Beyer, Ulrike; Loeffler-Wirth, Henry; Kaulich, Kerstin; Steinbach, Joachim P.; Hartmann, Christian; Gramatzki, Dorothee; Schramm, Johannes; Westphal, Manfred; Schackert, Gabriele; Simon, Matthias; Martens, Tobias; Bostroem, Jan; Hagel, Christian; Sabel, Michael; Krex, Dietmar; Tonn, Joerg C.; Wick, Wolfgang; Noell, Susan; Schlegel, Uwe; Radlwimmer, Bernhard; Pietsch, Torsten; Loeffler, Markus; von Deimling, Andreas; Binder, Hans; Reifenberger, Guido Share Save
MOLECULAR GENETIC DETERMINANTS OF LONG-TERM SURVIVAL WITH GLIOBLASTOMA Weller, Michael; Weber, Ruthild G.; Riehmer, Vera; Kaulich, Kerstin; Willscher, Edith; Wirth, Henry; Gietzelt, Jens; Hentschel, Bettina; Westphal, Manfred; Simon, Matthias; Schackert, Gabriele; Schramm, Johannes; Matschke, Jakob; Sabel, Michael C.; Gramatzki, Dorothee; Felsberg, Joerg; Hartmann, Christian; Steinbach, Joachim P.; Schlegel, Uwe; Wick, Wolfgang; Radlwimmer, Bernhard; Pietsch, Torsten; Tonn, Joerg C.; von Deimling, Andreas; Binder, Hans; Loeffler, Markus; Reifenberger, Guido Share Save
Genomic Profiling Reveals Distinctive Molecular Relapse Patterns in IDH1/2 Wild-Type Glioblastoma Riehmer, Vera; Gietzelt, Jens; Beyer, Ulrike; Hentschel, Bettina; Westphal, Manfred; Schackert, Gabriele; Sabel, Michael C.; Radlwimmer, Bernhard; Pietsch, Torsten; Reifenberger, Guido; Weller, Michael; Weber, Ruthild G.; Loeffler, Markus Share Save
Molecular characterization of long-term survivors of glioblastoma using genome-and transcriptome-wide profiling Reifenberger, Guido; Weber, Ruthild G.; Riehmer, Vera; Kaulich, Kerstin; Willscher, Edith; Wirth, Henry; Gietzelt, Jens; Hentschel, Bettina; Westphal, Manfred; Simon, Matthias; Schackert, Gabriele; Schramm, Johannes; Matschke, Jakob; Sabel, Michael C.; Gramatzki, Dorothee; Felsberg, Joerg; Hartmann, Christian; Steinbach, Joachim P.; Schlegel, Uwe; Wick, Wolfgang; Radlwimmer, Bernhard; Pietsch, Torsten; Tonn, Joerg C.; von Deimling, Andreas; Binder, Hans; Weller, Michael; Loeffler, Markus Share Save
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis Classen, Carl Friedrich; Riehmer, Vera; Landwehr, Christina; Kosfeld, Anne; Heilmann, Stefanie; Scholz, Caroline; Kabisch, Sarah; Engels, Hartmut; Tierling, Sascha; Zivicnjak, Miroslav; Schacherer, Frank; Haffner, Dieter; Weber, Ruthild G. Share Save
Overexpression of Far Upstream Element Binding Proteins: A Mechanism Regulating Proliferation and Migration in Liver Cancer Cells Malz, Mona; Weber, Achim; Singer, Stephan; Riehmer, Vera; Bissinger, Michaela; Riener, Marc-Oliver; Longerich, Thomas; Soll, Christopher; Vogel, Arndt; Angel, Peter; Schirmacher, Peter; Breuhahn, Kai Share Save
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