LPS-induced chorioamnionitis and antenatal corticosteroids modulate Shh signaling in the ovine fetal lung

by Collins, Jennifer J. P., Kuypers, Elke, Nitsos, Ilias, Jane Pillow, J., Polglase, Graeme R., Kemp, Matthew W., Newnham, John P., Cleutjens, Jack P., Frints, Suzanna G. M., Kallapur, Suhas G., Jobe, Alan H., Kramer, Boris W.
Published 2012

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

by Dowdle, William E., Robinson, Jon F., Kneist, Andreas, Sirerol-Piquer, M. Salomé, Frints, Suzanna G.M., Corbit, Kevin C., Zaghloul, Norran A., van Lijnschoten, Gesina, Mulders, Leon, Verver, Dideke E., Zerres, Klaus, Reed, Randall R., Attié-Bitach, Tania, Johnson, Colin A., García-Verdugo, José Manuel, Katsanis, Nicholas, Bergmann, Carsten, Reiter, Jeremy F.
Published 2011

Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

by Dowdle, William E., Robinson, Jon F., Kneist, Andreas, Sirerol-Piquer, M. Salomé, Frints, Suzanna G.M., Corbit, Kevin C., Zaghloul, Norann A., van Lijnschoten, Gesina, Mulders, Leon, Verver, Dideke E., Zerres, Klaus, Reed, Randall R., Attié-Bitach, Tania, Johnson, Colin A., García-Verdugo, José Manuel, Katsanis, Nicholas, Bergmann, Carsten, Reiter, Jeremy F.
Published 2011

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

by Vissers, Lisenka ELM, Bonetti, Monica, Paardekooper Overman, Jeroen, Nillesen, Willy M, Frints, Suzanna G M, de Ligt, Joep, Zampino, Giuseppe, Justino, Ana, Machado, José C, Schepens, Marga, Brunner, Han G, Veltman, Joris A, Scheffer, Hans, Gros, Piet, Costa, José L, Tartaglia, Marco, van der Burgt, Ineke, Yntema, Helger G, den Hertog, Jeroen
Published in Eur J Hum Genet (2015)

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31

by Beetz, Christian, Schüle, Rebecca, Deconinck, Tine, Tran-Viet, Khanh-Nhat, Zhu, Hui, Kremer, Berry P. H., Frints, Suzanna G. M., van Zelst-Stams, Wendy A. G., Byrne, Paula, Otto, Susanne, Nygren, Anders O. H., Baets, Jonathan, Smets, Katrien, Ceulemans, Berten, Dan, Bernard, Nagan, Narasimhan, Kassubek, Jan, Klimpe, Sven, Klopstock, Thomas, Stolze, Henning, Smeets, Hubert J. M., Schrander-Stumpel, Constance T. R. M., Hutchinson, Michael, van de Warrenburg, Bart P., Braastad, Corey, Deufel, Thomas, Pericak-Vance, Margaret, Schöls, Ludger, de Jonghe, Peter, Züchner, Stephan
Published 2008

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita

by Frints, Suzanna G.M., Hennig, Friederike, Colombo, Roberto, Jacquemont, Sebastien, Terhal, Paulien, Zimmerman, Holly H., Hunt, David, Mendelsohn, Bryce A., Kordaß, Ulrike, Webster, Richard, Sinnema, Margje, Abdul-Rahman, Omar, Suckow, Vanessa, Fernández-Jaén, Alberto, van Roozendaal, Kees, Stevens, Servi J.C., Macville, Merryn V.E., Al-Nasiry, Salwan, van Gassen, Koen, Utzig, Norbert, Koudijs, Suzanne M., McGregor, Lesley, Maas, Saskia M., Baralle, Diana, Dixit, Abhijit, Wieacker, Peter, Lee, Marcus, Lee, Arthur S., Engle, Elizabeth C., Houge, Gunnar, Gradek, Gyri A., Douglas, Andrew G.L., Longman, Cheryl, Joss, Shelagh, Velasco, Danita, Hennekam, Raoul C., Hirata, Hiromi, Kalscheuer, Vera M.
Published in Hum Mutat (2019)

Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

by Rice, Gillian , Patrick, Teresa , Parmar, Rekha , Taylor, Claire F. , Aeby, Alec , Aicardi, Jean , Artuch, Rafael , Montalto, Simon Attard , Bacino, Carlos A. , Barroso, Bruno , Baxter, Peter , Benko, Willam S. , Bergmann, Carsten , Bertini, Enrico , Biancheri, Roberta , Blair, Edward M. , Blau, Nenad , Bonthron, David T. , Briggs, Tracy , Brueton, Louise A. , Brunner, Han G. , Burke, Christopher J. , Carr, Ian M. , Carvalho, Daniel R. , Chandler, Kate E. , Christen, Hans-Jürgen , Corry, Peter C. , Cowan, Frances M. , Cox, Helen , D’Arrigo, Stefano , Dean, John , De Laet, Corinne , De Praeter, Claudine , Déry, Catherine , Ferrie, Colin D. , Flintoff, Kim , Frints, Suzanna G. M. , Garcia-Cazorla, Angels , Gener, Blanca , Goizet, Cyril , Goutières, Françoise , Green, Andrew J. , Guët, Agnès , Hamel, Ben C. J. , Hayward, Bruce E. , Heiberg, Arvid , Hennekam, Raoul C. , Husson, Marie , Jackson, Andrew P. , Jayatunga, Rasieka , Jiang, Yong-Hui , Kant, Sarina G. , Kao, Amy , King, Mary D. , Kingston, Helen M. , Klepper, Joerg , van der Knaap, Marjo S. , Kornberg, Andrew J. , Kotzot, Dieter , Kratzer, Wilfried , Lacombe, Didier , Lagae, Lieven , Landrieu, Pierre Georges , Lanzi, Giovanni , Leitch, Andrea , Lim, Ming J. , Livingston, John H. , Lourenco, Charles M. , Lyall, E. G. Hermione , Lynch, Sally A. , Lyons, Michael J. , Marom, Daphna , McClure, John P. , McWilliam, Robert , Melancon, Serge B. , Mewasingh, Leena D. , Moutard, Marie-Laure , Nischal, Ken K. , Østergaard, John R. , Prendiville, Julie , Rasmussen, Magnhild , Rogers, R. Curtis , Roland, Dominique , Rosser, Elisabeth M. , Rostasy, Kevin , Roubertie, Agathe , Sanchis, Amparo , Schiffmann, Raphael , Scholl-Bürgi, Sabine , Seal, Sunita , Shalev, Stavit A. , Corcoles, C. Sierra , Sinha, Gyan P. , Soler, Doriette , Spiegel, Ronen , Stephenson, John B. P. , Tacke, Uta , Tan, Tiong Yang , Till, Marianne , Tolmie, John L. , Tomlin, Pam , Vagnarelli, Federica , Valente, Enza Maria , Van Coster, Rudy N. A. , Van der Aa, Nathalie , Vanderver, Adeline , Vles, Johannes S. H. , Voit, Thomas , Wassmer, Evangeline , Weschke, Bernhard , Whiteford, Margo L. , Willemsen, Michel A. A. , Zankl, Andreas , Zuberi, Sameer M. , Orcesi, Simona , Fazzi, Elisa , Lebon, Pierre , Crow, Yanick J. 
Published 2007