Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry

Por Jae, Lucas T., Raaben, Matthijs, Riemersma, Moniek, van Beusekom, Ellen, Blomen, Vincent A., Velds, Arno, Kerkhoven, Ron. M., Carette, Jan E., Topaloglu, Haluk, Meinecke, Peter, Wessels, Marja W., Lefeber, Dirk J., Whelan, Sean P., van Bokhoven, Hans, Brummelkamp, Thijn R.
Publicado em 2013

Familial Syndromic Esophageal Atresia Maps to 2p23-p24

Por Celli, Jacopo, van Beusekom, Ellen, Hennekam, Raoul C. M., Gallardo, M. Esther, Smeets, Dominique F. C. M., de Córdoba, Santiago Rodríguez, Innis, Jeffrey W., Frydman, Moshe, König, Rainer, Kingston, Helen, Tolmie, John, Govaerts, Lutgarde C. P., van Bokhoven, Hans, Brunner, Han G.
Publicado em 2000

Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome

Por Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hülya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesús, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Han G.
Publicado em 2002

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome

Por Buysse, Karen, Riemersma, Moniek, Powell, Gareth, van Reeuwijk, Jeroen, Chitayat, David, Roscioli, Tony, Kamsteeg, Erik-Jan, van den Elzen, Christa, van Beusekom, Ellen, Blaser, Susan, Babul-Hirji, Riyana, Halliday, William, Wright, Gavin J., Stemple, Derek L., Lin, Yung-Yao, Lefeber, Dirk J., van Bokhoven, Hans
Publicado em 2013

Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome

Por 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
Publicado em 2010

De novo mutations in PLXND1 and REV3L cause Möbius syndrome

Por Tomas-Roca, Laura, Tsaalbi-Shtylik, Anastasia, Jansen, Jacob G., Singh, Manvendra K., Epstein, Jonathan A., Altunoglu, Umut, Verzijl, Harriette, Soria, Laura, van Beusekom, Ellen, Roscioli, Tony, Iqbal, Zafar, Gilissen, Christian, Hoischen, Alexander, de Brouwer, Arjan P. M., Erasmus, Corrie, Schubert, Dirk, Brunner, Han, Pérez Aytés, Antonio, Marin, Faustino, Aroca, Pilar, Kayserili, Hülya, Carta, Arturo, de Wind, Niels, Padberg, George W., van Bokhoven, Hans
Publicado no Nat Commun (2015)

p63 Gene Mutations in EEC Syndrome, Limb-Mammary Syndrome, and Isolated Split Hand–Split Foot Malformation Suggest a Genotype-Phenotype Correlation

Por van Bokhoven, Hans, Hamel, Ben C. J., Bamshad, Mike, Sangiorgi, Eugenio, Gurrieri, Fiorella, Duijf, Pascal H. G., Vanmolkot, Kaate R. J., van Beusekom, Ellen, van Beersum, Sylvia E. C., Celli, Jacopo, Merkx, Gerard F. M., Tenconi, Romano, Fryns, Jean Pierre, Verloes, Alain, Newbury-Ecob, Ruth A., Raas-Rotschild, Annick, Majewski, Frank, Beemer, Frits A., Janecke, Andreas, Chitayat, David, Crisponi, Giangiorgio, Kayserili, Hülya, Yates, John R. W., Neri, Giovanni, Brunner, Han G.
Publicado em 2001

Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice

Por Rainger, Joe, van Beusekom, Ellen, Ramsay, Jacqueline K., McKie, Lisa, Al-Gazali, Lihadh, Pallotta, Rosanna, Saponari, Anita, Branney, Peter, Fisher, Malcolm, Morrison, Harris, Bicknell, Louise, Gautier, Philippe, Perry, Paul, Sokhi, Kishan, Sexton, David, Bardakjian, Tanya M., Schneider, Adele S., Elcioglu, Nursel, Ozkinay, Ferda, Koenig, Rainer, Mégarbané, Andre, Semerci, C. Nur, Khan, Ayesha, Zafar, Saemah, Hennekam, Raoul, Sousa, Sérgio B., Ramos, Lina, Garavelli, Livia, Furga, Andrea Superti, Wischmeijer, Anita, Jackson, Ian J., Gillessen-Kaesbach, Gabriele, Brunner, Han G., Wieczorek, Dagmar, van Bokhoven, Hans, FitzPatrick, David R.
Publicado em 2011

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Por Roscioli, Tony, Kamsteeg, Erik-Jan, Buysse, Karen, Maystadt, Isabelle, van Reeuwijk, Jeroen, van den Elzen, Christa, van Beusekom, Ellen, Riemersma, Moniek, Pfundt, Rolph, Vissers, Lisenka E.L.M., Schraders, Margit, Altunoglu, Umut, Buckley, Michael F., Brunner, Han G., Grisart, Bernard, Zhou, Huiqing, Veltman, Joris A., Gilissen, Christian, Mancini, Grazia M.S., Delrée, Paul, Willemsen, Michèl A., Ramadža, Danijela Petković, Chitayat, David, Bennett, Christopher, Sheridan, Eamonn, Peeters, Els A.J., Tan-Sindhunata, Gita M.B., de Die-Smulders, Christine E., Devriendt, Koenraad, Kayserili, Hülya, El-Hashash, Osama Abd El-Fattah, Stemple, Derek L., Lefeber, Dirk J., Lin, Yung-Yao, van Bokhoven, Hans
Publicado em 2012

Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Por Ockeloen, Charlotte W., Khandelwal, Kriti D., Dreesen, Karoline, Ludwig, Kerstin U., Sullivan, Robert, van Rooij, Iris A.L.M., Thonissen, Michelle, Swinnen, Steven, Phan, Milien, Conte, Federica, Ishorst, Nina, Gilissen, Christian, RoaFuentes, Laury, van de Vorst, Maartje, Henkes, Arjen, Steehouwer, Marloes, van Beusekom, Ellen, Bloemen, Marjon, Vankeirsbilck, Bruno, Bergé, Stefaan, Hens, Greet, Schoenaers, Joseph, Poorten, Vincent Vander, Roosenboom, Jasmien, Verdonck, An, Devriendt, Koen, Roeleveldt, Nel, Jhangiani, Shalini N., Vissers, Lisenka E.L.M., Lupski, James R., de Ligt, Joep, Von den Hoff, Johannes W., Pfundt, Rolph, Brunner, Han G., Zhou, Huiqing, Dixon, Jill, Mangold, Elisabeth, van Bokhoven, Hans, Dixon, Michael J., Kleefstra, Tjitske, Hoischen, Alexander, Carels, Carine E.L.
Publicado no Genet Med (2016)