Outcome of publicly funded nationwide first-tier noninvasive prenatal screening
Van Den Bogaert, Kris, Lannoo, Lore, Brison, Nathalie, Gatinois, Vincent, Baetens, Machteld, Blaumeiser, Bettina, Boemer, François, Bourlard, Laura, Bours, Vincent, De Leener, Anne, De Rademaeker, Marjan, Désir, Julie, Dheedene, Annelies, Duquenne, Armelle, Fieremans, Nathalie, Fieuw, Annelies, Gatot, Jean-Stéphane, Grisart, Bernard, Janssens, Katrien, Janssens, Sandra, Lederer, Damien, Marichal, Axel, Menten, Björn, Meunier, Colombine, Palmeira, Leonor, Pichon, Bruno, Sammels, Eva, Smits, Guillaume, Sznajer, Yves, Vantroys, Elise, Devriendt, Koenraad, Vermeesch, Joris Robert
Published in Genetics in medicine (01.06.2021)
Published in Genetics in medicine (01.06.2021)
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Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci
Betz, Regina C, Petukhova, Lynn, Ripke, Stephan, Huang, Hailiang, Menelaou, Androniki, Redler, Silke, Becker, Tim, Heilmann, Stefanie, Yamany, Tarek, Duvic, Madeliene, Hordinsky, Maria, Norris, David, Price, Vera H, Mackay-Wiggan, Julian, de Jong, Annemieke, DeStefano, Gina M, Moebus, Susanne, Böhm, Markus, Blume-Peytavi, Ulrike, Wolff, Hans, Lutz, Gerhard, Kruse, Roland, Bian, Li, Amos, Christopher I, Lee, Annette, Gregersen, Peter K, Blaumeiser, Bettina, Altshuler, David, Clynes, Raphael, de Bakker, Paul I W, Nöthen, Markus M, Daly, Mark J, Christiano, Angela M
Published in Nature communications (22.01.2015)
Published in Nature communications (22.01.2015)
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Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges
Janicki, Ewa, De Rademaeker, Marjan, Meunier, Colombine, Boeckx, Nele, Blaumeiser, Bettina, Janssens, Katrien
Published in Diagnostics (Basel) (23.02.2023)
Published in Diagnostics (Basel) (23.02.2023)
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Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication
Leroij, Olivier, Van der Veeken, Lennart, Blaumeiser, Bettina, Janssens, Katrien
Published in Reproductive medicine (Basel, Switzerland) (01.09.2021)
Published in Reproductive medicine (Basel, Switzerland) (01.09.2021)
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Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance
Jacquemin, Valerie, Versbraegen, Nassim, Duerinckx, Sarah, Massart, Annick, Soblet, Julie, Perazzolo, Camille, Deconinck, Nicolas, Brischoux-Boucher, Elise, De Leener, Anne, Revencu, Nicole, Janssens, Sandra, Moorgat, Stèphanie, Blaumeiser, Bettina, Avela, Kristiina, Touraine, Renaud, Abou Jaoude, Imad, Keymolen, Kathelijn, Saugier-Veber, Pascale, Lenaerts, Tom, Abramowicz, Marc, Pirson, Isabelle
Published in Human genomics (02.03.2023)
Published in Human genomics (02.03.2023)
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Genome-Wide MicroRNA Analysis Implicates miR-30b/d in the Etiology of Alopecia Areata
Tafazzoli, Aylar, Forstner, Andreas J., Broadley, David, Hofmann, Andrea, Redler, Silke, Petukhova, Lynn, Giehl, Kathrin A., Kruse, Roland, Blaumeiser, Bettina, Böhm, Markus, Bertolini, Marta, Rossi, Alfredo, Garcia Bartels, Natalie, Lutz, Gerhard, Wolff, Hans, Blume-Peytavi, Ulrike, Soreq, Hermona, Christiano, Angela M., Botchkareva, Natalia V., Nöthen, Markus M., Betz, Regina C.
Published in Journal of investigative dermatology (01.03.2018)
Published in Journal of investigative dermatology (01.03.2018)
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Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies
Southgate, Laura, Machado, Rajiv D., Snape, Katie M., Primeau, Martin, Dafou, Dimitra, Ruddy, Deborah M., Branney, Peter A., Fisher, Malcolm, Lee, Grace J., Simpson, Michael A., He, Yi, Bradshaw, Teisha Y., Blaumeiser, Bettina, Winship, William S., Reardon, Willie, Maher, Eamonn R., FitzPatrick, David R., Wuyts, Wim, Zenker, Martin, Lamarche-Vane, Nathalie, Trembath, Richard C.
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients
Wieme, Greet, Kral, Jan, Rosseel, Toon, Zemankova, Petra, Parton, Bram, Vocka, Michal, Van Heetvelde, Mattias, Kleiblova, Petra, Blaumeiser, Bettina, Soukupova, Jana, van den Ende, Jenneke, Nehasil, Petr, Tejpar, Sabine, Borecka, Marianna, Gómez García, Encarna B., Blok, Marinus J., Safarikova, Marketa, Kalousova, Marta, Geboes, Karen, De Putter, Robin, Poppe, Bruce, De Leeneer, Kim, Kleibl, Zdenek, Janatova, Marketa, Claes, Kathleen B. M.
Published in Cancers (02.09.2021)
Published in Cancers (02.09.2021)
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Loss-of-Function Mutations in the Filaggrin Gene and Alopecia Areata: Strong Risk Factor for a Severe Course of Disease in Patients Comorbid for Atopic Disease
Betz, Regina C., Pforr, Jana, Flaquer, Antonia, Redler, Silke, Hanneken, Sandra, Eigelshoven, Sibylle, Kortüm, Anne-Katrin, Tüting, Thomas, Lambert, Julien, De Weert, Jozef, Hillmer, Axel M., Schmael, Christine, Wienker, Thomas F., Kruse, Roland, Lutz, Gerhard, Blaumeiser, Bettina, Nöthen, Markus M.
Published in Journal of investigative dermatology (01.11.2007)
Published in Journal of investigative dermatology (01.11.2007)
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Parent-of-origin Effect in Alopecia Areata: A Large-scale Pedigree Study
Redler, Silke, Basmanav, F Buket Ü, Blaumeiser, Bettina, Bartels, Natalie Garcia, Lutz, Gerhard, Tafazzoli, Aylar, Kruse, Roland, Wolff, Hans, Böhm, Markus, Blume-Peytavi, Ulrike, Becker, Tim, Nöthen, Markus M, Betz, Regina C
Published in Acta dermato-venereologica (06.07.2017)
Published in Acta dermato-venereologica (06.07.2017)
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Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
LUDWIG, Kerstin U, MANGOLD, Elisabeth, BÖHMER, Anne C, MATTHEISEN, Manuel, ALBLAS, Margrieta A, BARTH, Sandra, KLUCK, Nadine, LAUSTER, Carola, BRAUMANN, Bert, REICH, Rudolf H, HEMPRICH, Alexander, PÖTZSCH, Simone, HERMS, Stefan, BLAUMEISER, Bettina, DARATSIANOS, Nikolaos, KREUSCH, Thomas, MURRAY, Jeffrey C, MARAZITA, Mary L, RUCZINSKI, Ingo, SCOTT, Alan F, BEATY, Terri H, KRAMER, Franz-Josef, WIENKER, Thomas F, NOWAK, Stefanie, STEEGERS-THEUNISSEN, Regine P, RUBINI, Michele, MOSSEY, Peter A, HOFFMANN, Per, LANGE, Christoph, CICHON, Sven, PROPPING, Peter, KNAPP, Michael, NÖTHEN, Markus M, REUTTER, Heiko, PAUL, Anna, BECKER, Jessica, HERBERZ, Ruth, ALCHAWA, Taofik, NASSER, Entessar
Published in Nature genetics (01.09.2012)
Published in Nature genetics (01.09.2012)
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Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development
Guillemyn, Brecht, De Saffel, Hanna, Bek, Jan Willem, Tapaneeyaphan, Piyanoot, De Clercq, Adelbert, Jarayseh, Tamara, Debaenst, Sophie, Willaert, Andy, De Rycke, Riet, Byers, Peter H, Rosseel, Toon, Coucke, Paul, Blaumeiser, Bettina, Syx, Delfien, Malfait, Fransiska, Symoens, Sofie
Published in Journal of bone and mineral research (01.11.2023)
Published in Journal of bone and mineral research (01.11.2023)
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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15
Cheng, Hanyin, Gottlieb, Leah, Marchi, Elaine, Kleyner, Robert, Bhardwaj, Puja, Rope, Alan F, Rosenheck, Sarah, Moutton, Sébastien, Philippe, Christophe, Eyaid, Wafaa, Alkuraya, Fowzan S, Toribio, Janet, Mena, Rafael, Prada, Carlos E, Stessman, Holly, Bernier, Raphael, Wermuth, Marieke, Kauffmann, Birgit, Blaumeiser, Bettina, Kooy, R Frank, Baralle, Diana, Mancini, Grazia M S, Conway, Simon J, Xia, Fan, Chen, Zhao, Meng, Linyan, Mihajlovic, Ljubisa, Marmorstein, Ronen, Lyon, Gholson J
Published in Human molecular genetics (01.09.2019)
Published in Human molecular genetics (01.09.2019)
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Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles
Parijs, Ilse, Brison, Nathalie, Vancoillie, Leen, Baetens, Machteld, Blaumeiser, Bettina, Boulanger, Sébastien, Désir, Julie, Dimitrov, Boyan, Fieremans, Nathalie, Janssens, Katrien, Janssens, Sandra, Marichal, Axel, Menten, Björn, Meunier, Colombine, Van Berkel, Kim, Van Den Bogaert, Ann, Devriendt, Koenraad, Van Den Bogaert, Kris, Vermeesch, Joris Robert
Published in European journal of human genetics : EJHG (01.01.2024)
Published in European journal of human genetics : EJHG (01.01.2024)
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