ATP5PO levels regulate enteric nervous system development in zebrafish, linking Hirschsprung disease to Down Syndrome
Kuil, L.E., Chauhan, R.K., de Graaf, B.M., Cheng, W.W., Kakiailatu, N.J.M., Lasabuda, R., Verhaeghe, C., Windster, J.D., Schriemer, D., Azmani, Z., Brooks, A.S., Edie, S., Reeves, R.H., Eggen, B.J.L., Shepherd, I.T., Burns, A.J., Hofstra, R.M.W., Melotte, V., Brosens, E., Alves, M.M.
Published in Biochimica et biophysica acta. Molecular basis of disease (01.03.2024)
Published in Biochimica et biophysica acta. Molecular basis of disease (01.03.2024)
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Journal Article
OC11.04: The vertebral pattern in children with esophageal atresia and anorectal malformations
Schut, P.C., Eggink, A., Boersma, M., Tibboel, D., Wijnen, R.M., Brosens, E., Dremmen, M.H., Cohen‐Overbeek, T.E.
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
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Journal Article
Nimbus: a design-driven analyses suite for amplicon-based NGS data
Brouwer, R W W, van den Hout, M C G N, Kockx, C E M, Brosens, E, Eussen, B, de Klein, A, Sleutels, F, van IJcken, W F J
Published in Bioinformatics (15.08.2018)
Published in Bioinformatics (15.08.2018)
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OC11.05: Abnormal vertebral pattern in genetically heterogeneous deceased fetuses and neonates: evidence of selection against variations
Schut, P.C., Brosens, E., Galis, F., Ten Broek, C.M., Baijens, I.M., Dremmen, M.H., Tibboel, D., Klein, A., Schol, M.P., Eggink, A., Cohen‐Overbeek, T.E.
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
Published in Ultrasound in obstetrics & gynecology (01.10.2019)
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Journal Article
VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
Brosens, E., Eussen, H., van Bever, Y., van der Helm, R.M., Ijsselstijn, H., Zaveri, H.P., Wijnen, R., Scott, D.A., Tibboel, D., de Klein, A.
Published in Molecular syndromology (01.02.2013)
Published in Molecular syndromology (01.02.2013)
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Journal Article
Structure and function of a novel purine specific nucleoside hydrolase from Trypanosoma vivax
Versées, W., Decanniere, K., Pellé, R., Depoorter, J., Brosens, E., Parkin, D.W., Steyaert, J.
Published in Journal of molecular biology (13.04.2001)
Published in Journal of molecular biology (13.04.2001)
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Journal Article
Recommendations for whole genome sequencing in diagnostics for rare diseases
Souche, Erika, Beltran, Sergi, Brosens, Erwin, Belmont, John W, Fossum, Magdalena, Riess, Olaf, Gilissen, Christian, Ardeshirdavani, Amin, Houge, Gunnar, van Gijn, Marielle, Clayton-Smith, Jill, Synofzik, Matthis, de Leeuw, Nicole, Deans, Zandra C, Dincer, Yasemin, Eck, Sebastian H, van der Crabben, Saskia, Balasubramanian, Meena, Graessner, Holm, Sturm, Marc, Firth, Helen, Ferlini, Alessandra, Nabbout, Rima, De Baere, Elfride, Liehr, Thomas, Macek, Milan, Matthijs, Gert, Scheffer, Hans, Bauer, Peter, Yntema, Helger G, Weiss, Marjan M
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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DOZ047.32: Infantile hypertrophic pyloric stenosis in patients with esophageal atresia: proposal for a causative seesaw model
Ten Kate, C A, Brouwer, R W W, van Bever, Y, Martens, V K, Brands, T, van Beelen, N W G, Brooks, A S, Huigh, D, Eussen, H, van IJcken, W F J, IJsselstijn, H, Tibboel, D, Wijnen, R M H, de Klein, A, Hofstra, R M W, Brosens, E
Published in Diseases of the esophagus (01.06.2019)
Published in Diseases of the esophagus (01.06.2019)
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Journal Article
The Conserved Active Site Proline Determines the Reducing Power of Staphylococcus aureus Thioredoxin
Roos, Goedele, Garcia-Pino, Abel, Van belle, Karolien, Brosens, Elke, Wahni, Khadija, Vandenbussche, Guy, Wyns, Lode, Loris, Remy, Messens, Joris
Published in Journal of molecular biology (04.05.2007)
Published in Journal of molecular biology (04.05.2007)
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First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
Gehlen, Jan, Giel, Ann-Sophie, Köllges, Ricarda, Haas, Stephan L., Zhang, Rong, Trcka, Jiri, Sungur, Ayse Ö., Renziehausen, Florian, Bornholdt, Dorothea, Jung, Daphne, Hoyer, Paul D., Nordenskjöld, Agneta, Tibboel, Dick, Vlot, John, Spaander, Manon C.W., Smigiel, Robert, Patkowski, Dariusz, Roeleveld, Nel, van Rooij, Iris ALM, de Blaauw, Ivo, Hölscher, Alice, Pauly, Marcus, Leutner, Andreas, Fuchs, Joerg, Niethammer, Joel, Melissari, Maria-Theodora, Jenetzky, Ekkehart, Zwink, Nadine, Thiele, Holger, Hilger, Alina Christine, Hess, Timo, Trautmann, Jessica, Marks, Matthias, Baumgarten, Martin, Bläss, Gaby, Landén, Mikael, Fundin, Bengt, Bulik, Cynthia M., Pennimpede, Tracie, Ludwig, Michael, Ludwig, Kerstin U., Mangold, Elisabeth, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Herrmann, Bernhard G., Alsabeah, Kristina, Burgos, Carmen M., Lilja, Helene E., Azodi, Sahar, Stenström, Pernilla, Arnbjörnsson, Einar, Frybova, Barbora, Lebensztejn, Dariusz M., Debek, Wojciech, Kolodziejczyk, Elwira, Kozera, Katarzyna, Kierkus, Jaroslaw, Kaliciński, Piotr, Stefanowicz, Marek, Socha-Banasiak, Anna, Kolejwa, Michal, Piaseczna-Piotrowska, Anna, Czkwianianc, Elzbieta, Nöthen, Markus M., Grote, Phillip, Rygl, Michal, Reinshagen, Konrad, Spychalski, Nicole, Ludwikowski, Barbara, Hubertus, Jochen, Heydweiller, Andreas, Ure, Benno, Muensterer, Oliver J., Aubert, Ophelia, Gosemann, Jan-Hendrik, Lacher, Martin, Degenhardt, Petra, Boemers, Thomas M., Mokrowiecka, Anna, Małecka-Panas, Ewa, Wöhr, Markus, Knapp, Michael, Seitz, Guido, de Klein, Annelies, Oracz, Grzegorz, Brosens, Erwin, Reutter, Heiko, Schumacher, Johannes
Published in HGG advances (14.04.2022)
Published in HGG advances (14.04.2022)
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Small noncoding differentially methylated copy-number variants, including IncRNA genes, cause a lethal lung developmental disorder
Szafranski, P, Dharmadhikari, A V, Brosens, E, Gurha, P, Kolodziejska, KE, Zhishuo, O, Dittwald, P, Majewski, T, Mohan, K N, Chen, B, Person, R E, Tibboel, D, de Klein, A, Stankiewicz, P
Published in Genome research (01.01.2013)
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Published in Genome research (01.01.2013)
Journal Article
The fimbrial adhesin F17‐G of enterotoxigenic Escherichia coli has an immunoglobulin‐like lectin domain that binds N‐acetylglucosamine
Buts, Lieven, Bouckaert, Julie, De Genst, Erwin, Loris, Remy, Oscarson, Stefan, Lahmann, Martina, Messens, Joris, Brosens, Elke, Wyns, Lode, De Greve, Henri
Published in Molecular microbiology (01.08.2003)
Published in Molecular microbiology (01.08.2003)
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Journal Article
All Intermediates of the Arsenate Reductase Mechanism, Including an Intramolecular Dynamic Disulfide Cascade
Messens, Joris, Martins, José C., Van Belle, Karolien, Brosens, Elke, Desmyter, Aline, De Gieter, Marjan, Wieruszeski, Jean-Michel, Willem, Rudolph, Wyns, Lode, Zegers, Ingrid
Published in Proceedings of the National Academy of Sciences - PNAS (25.06.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (25.06.2002)
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Journal Article
Interplay Between Ion Binding and Catalysis in the Thioredoxin-coupled Arsenate Reductase Family
Roos, Goedele, Buts, Lieven, Van Belle, Karolien, Brosens, Elke, Geerlings, Paul, Loris, Remy, Wyns, Lode, Messens, Joris
Published in Journal of molecular biology (21.07.2006)
Published in Journal of molecular biology (21.07.2006)
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Solving the phase problem for carbohydrate-binding proteins using selenium derivatives of their ligands: a case study involving the bacterial F17-G adhesin
Buts, Lieven, Loris, Remy, De Genst, Erwin, Oscarson, Stefan, Lahmann, Martina, Messens, Joris, Brosens, Elke, Wyns, Lode, De Greve, Henri, Bouckaert, Julie
Published in Acta crystallographica. Section D, Biological crystallography. (01.06.2003)
Published in Acta crystallographica. Section D, Biological crystallography. (01.06.2003)
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Purification of an oxidation-sensitive enzyme, pI258 arsenate reductase from Staphylococcus aureus
Messens, Joris, Martins, José C., Zegers, Ingrid, Van Belle, Karolien, Brosens, Elke, Wyns, Lode
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (25.06.2003)
Published in Journal of chromatography. B, Analytical technologies in the biomedical and life sciences (25.06.2003)
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Development of a downstream process for the isolation of Staphylococcus aureus arsenate reductase overproduced in Escherichia coli
Messens, Joris, Hayburn, Gaynor, Brosens, Elke, Laus, Georges, Wyns, Lode
Published in Journal of chromatography. B, Biomedical sciences and applications (14.01.2000)
Published in Journal of chromatography. B, Biomedical sciences and applications (14.01.2000)
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