Vertical heterogeneity in physiological characteristics of Ulva spp. mats von MALTA, E, RIJSTENBIL, J. W, BROUWER, P. E. M, KROMKAMP, J. C

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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome von Koolen, David A, Kramer, Jamie M, Neveling, Kornelia, Nillesen, Willy M, Moore-Barton, Heather L, Elmslie, Frances V, Toutain, Annick, Amiel, Jeanne, Malan, Valérie, Tsai, Anne Chun-Hui, Cheung, Sau Wai, Gilissen, Christian, Verwiel, Eugene T P, Martens, Sarah, Feuth, Ton, Bongers, Ernie M H F, de Vries, Petra, Scheffer, Hans, Vissers, Lisenka E L M, de Brouwer, Arjan P M, Brunner, Han G, Veltman, Joris A, Schenck, Annette, Yntema, Helger G, de Vries, Bert B A

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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome von Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.

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Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability von Kleefstra, Tjitske, Kramer, Jamie M., Neveling, Kornelia, Willemsen, Marjolein H., Koemans, Tom S., Vissers, Lisenka E.L.M., Wissink-Lindhout, Willemijn, Fenckova, Michaela, van den Akker, Willem M.R., Kasri, Nael Nadif, Nillesen, Willy M., Prescott, Trine, Clark, Robin D., Devriendt, Koenraad, van Reeuwijk, Jeroen, de Brouwer, Arjan P.M., Gilissen, Christian, Zhou, Huiqing, Brunner, Han G., Veltman, Joris A., Schenck, Annette, van Bokhoven, Hans

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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness von Wortmann, Saskia B, Vaz, Frédéric M, Gardeitchik, Thatjana, Vissers, Lisenka E L M, Renkema, G Herma, Schuurs-Hoeijmakers, Janneke H M, Kulik, Wim, Lammens, Martin, Christin, Christin, Kluijtmans, Leo A J, Rodenburg, Richard J, Nijtmans, Leo G J, Grünewald, Anne, Klein, Christine, Gerhold, Joachim M, Kozicz, Tamas, van Hasselt, Peter M, Harakalova, Magdalena, Kloosterman, Wigard, Barić, Ivo, Pronicka, Ewa, Ucar, Sema Kalkan, Naess, Karin, Singhal, Kapil K, Krumina, Zita, Gilissen, Christian, van Bokhoven, Hans, Veltman, Joris A, Smeitink, Jan A M, Lefeber, Dirk J, Spelbrink, Johannes N, Wevers, Ron A, Morava, Eva, de Brouwer, Arjan P M

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Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly von Giannandrea, Maila, Bianchi, Veronica, Mignogna, Maria Lidia, Sirri, Alessandra, Carrabino, Salvatore, D'Elia, Errico, Vecellio, Matteo, Russo, Silvia, Cogliati, Francesca, Larizza, Lidia, Ropers, Hans-Hilger, Tzschach, Andreas, Kalscheuer, Vera, Oehl-Jaschkowitz, Barbara, Skinner, Cindy, Schwartz, Charles E., Gecz, Jozef, Van Esch, Hilde, Raynaud, Martine, Chelly, Jamel, de Brouwer, Arjan P.M., Toniolo, Daniela, D'Adamo, Patrizia

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OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin von Coene, Karlien L.M., Roepman, Ronald, Doherty, Dan, Afroze, Bushra, Kroes, Hester Y., Letteboer, Stef J.F., Ngu, Lock H., Budny, Bartlomiej, van Wijk, Erwin, Gorden, Nicholas T., Azhimi, Malika, Thauvin-Robinet, Christel, Veltman, Joris A., Boink, Mireille, Kleefstra, Tjitske, Cremers, Frans P.M., van Bokhoven, Hans, de Brouwer, Arjan P.M.

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PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment von de Brouwer, Arjan P.M., van Bokhoven, Hans, Nabuurs, Sander B., Arts, Willem Frans, Christodoulou, John, Duley, John

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Identification and Characterization of an Inborn Error of Metabolism Caused by Dihydrofolate Reductase Deficiency von Banka, Siddharth, Blom, Henk J., Walter, John, Aziz, Majid, Urquhart, Jill, Clouthier, Christopher M., Rice, Gillian I., de Brouwer, Arjan P.M., Hilton, Emma, Vassallo, Grace, Will, Andrew, Smith, Desirée E.C., Smulders, Yvo M., Wevers, Ron A., Steinfeld, Robert, Heales, Simon, Crow, Yanick J., Pelletier, Joelle N., Jones, Simon, Newman, William G.

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The Applicability of the International Classification of Functioning, Disability, and Health to Study Lifestyle and Quality of Life of Colorectal Cancer Survivors von VAN ROEKEL, Eline H, BOURS, Martijn J. L, DE BROUWER, Carin P. M, NAPEL, Huib Ten, SANDULEANU, Silvia, BEETS, Geerard L, KANT, Ijmert, WEIJENBERG, Matty P

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Intellectual disability and bleeding diathesis due to deficient CMP–sialic acid transport von Mohamed, Miski, Ashikov, Angel, Guillard, Mailys, Robben, Joris H, Schmidt, Samuel, van den Heuvel, B, de Brouwer, Arjan P.M, Gerardy-Schahn, Rita, Deen, Peter M.T, Wevers, Ron A, Lefeber, Dirk J, Morava, Eva

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A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism von Morava, Eva, Wevers, Ron A., Cantagrel, Vincent, Hoefsloot, Lies H., Al-Gazali, Lihadh, Schoots, Jeroen, van Rooij, Arno, Huijben, Karin, van Ravenswaaij-Arts, Connie M. A., Jongmans, Marjolein C. J., Sykut-Cegielska, Jolanta, Hoffmann, Georg F., Bluemel, Peter, Adamowicz, Maciej, van Reeuwijk, Jeroen, Ng, Bobby G., Bergman, Jorieke E. H., van Bokhoven, Hans, Körner, Christian, Babovic-Vuksanovic, Dusica, Willemsen, Michel A., Gleeson, Joseph G., Lehle, Ludwig, de Brouwer, Arjan P. M., Lefeber, Dirk J.

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UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome von Nascimento, Rafaella M.P., Otto, Paulo A., de Brouwer, Arjan P.M., Vianna-Morgante, Angela M.

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Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy von Lugtenberg, Dorien, Kleefstra, Tjitske, Oudakker, Astrid R, Nillesen, Willy M, Yntema, Helger G, Tzschach, Andreas, Raynaud, Martine, Rating, Dietz, Journel, Hubert, Chelly, Jamel, Goizet, Cyril, Lacombe, Didier, Pedespan, Jean-Michel, Echenne, Bernard, Tariverdian, Gholamali, O'Rourke, Declan, King, Mary D, Green, Andrew, van Kogelenberg, Margriet, Van Esch, Hilde, Gecz, Jozef, Hamel, Ben C J, van Bokhoven, Hans, de Brouwer, Arjan P M

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Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1 von de Brouwer, Arjan P.M., Williams, Kelly L., Duley, John A., van Kuilenburg, André B.P., Nabuurs, Sander B., Egmont-Petersen, Michael, Lugtenberg, Dorien, Zoetekouw, Lida, Banning, Martijn J.G., Roeffen, Melissa, Hamel, Ben C.J., Weaving, Linda, Ouvrier, Robert A., Donald, Jennifer A., Wevers, Ron A., Christodoulou, John, van Bokhoven, Hans

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A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone-Rod Synaptic Disorder von Littink, Karin W, van Genderen, Maria M, Collin, Rob W. J, Roosing, Susanne, de Brouwer, Arjan P. M, Riemslag, Frans C. C, Venselaar, Hanka, Thiadens, Alberta A. H. J, Hoyng, Carel B, Rohrschneider, Klaus, den Hollander, Anneke I, Cremers, Frans P. M, van den Born, L. Ingeborgh

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A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation von Zanni, Ginevra, van Esch, Hilde, Bensalem, Anissa, Saillour, Yoann, Poirier, Karine, Castelnau, Laetitia, Ropers, Hans Hilger, de Brouwer, Arjan P. M., Laumonnier, Fréderic, Fryns, Jean-Pierre, Chelly, Jamel

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Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS‐I von Moran, Rocio, Kuilenburg, André B.P., Duley, John, Nabuurs, Sander B., Retno‐Fitri, Aditia, Christodoulou, John, Roelofsen, Jeroen, Yntema, Helger G., Friedman, Neil R., van Bokhoven, Hans, de Brouwer, Arjan P.M.

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Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism von KOOLEN, David A, DUPONT, Juliette, DE VRIES, Bert B. A, PARKER, Michael J, DE LEEUW, Nicole, VISSERS, Lisenka E. L. M, VAN DEN HEUVEL, Simone P. A, BRADBURY, Alyson, STEER, James, DE BROUWER, Arjan P. M, TEN KATE, Leo P, NILLESEN, Willy M

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Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH von Lugtenberg, D, de Brouwer, A P M, Kleefstra, T, Oudakker, A R, Frints, S G M, Schrander-Stumpel, C T R M, Fryns, J P, Jensen, L R, Chelly, J, Moraine, C, Turner, G, Veltman, J A, Hamel, B C J, de Vries, B B A, van Bokhoven, H, Yntema, H G

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