Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects

por Runtuwene, Vincent, van Eekelen, Mark, Overvoorde, John, Rehmann, Holger, Yntema, Helger G., Nillesen, Willy M., van Haeringen, Arie, van der Burgt, Ineke, Burgering, Boudewijn, den Hertog, Jeroen
Publicado 2011

Novel genetic causes for cerebral visual impairment

por Bosch, Daniëlle GM, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans PM, de Vries, Bert BA
Publicado en Eur J Hum Genet (2016)

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome

por Beunders, Gea, de Munnik, Sonja A, Van der Aa, Nathalie, Ceulemans, Berten, Voorhoeve, Els, Groffen, Alexander J, Nillesen, Willy M, Meijers-Heijboer, Elizabeth J, Frank Kooy, R, Yntema, Helger G, Sistermans, Erik A
Publicado en Eur J Hum Genet (2015)

Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism

por Koolen, David A, Dupont, Juliette, de Leeuw, Nicole, Vissers, Lisenka ELM, van den Heuvel, Simone PA, Bradbury, Alyson, Steer, James, de Brouwer, Arjan PM, ten Kate, Leo P, Nillesen, Willy M, de Vries, Bert BA, Parker, Michael J
Publicado 2012

Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study

por Mundhofir, Farmaditya E. P., Nillesen, Willy M., Van Bon, Bregje W. M., Smeets, Dominique, Pfundt, Rolph, van de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri I., Hamel, Ben C. J., Yntema, Helger G., Faradz, Sultana M. H.
Publicado 2013

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

por Duvvari, Maheswara R., Saksens, Nicole T.M., van de Ven, Johannes P.H., de Jong-Hesse, Yvonne, Schick, Tina, Nillesen, Willy M., Fauser, Sascha, Hoefsloot, Lies H., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.
Publicado en Mol Vis (2015)

Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation

por Jongmans, Marjolijn C J, van der Burgt, Ineke, Hoogerbrugge, Peter M, Noordam, Kees, Yntema, Helger G, Nillesen, Willy M, Kuiper, Roland P, Ligtenberg, Marjolijn JL, van Kessel, Ad Geurts, van Krieken, J Han JM, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline
Publicado 2011

Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome

por Kleefstra, Tjitske, Brunner, Han G., Amiel, Jeanne, Oudakker, Astrid R., Nillesen, Willy M., Magee, Alex, Geneviève, David, Cormier-Daire, Valérie, van Esch, Hilde, Fryns, Jean-Pierre, Hamel, Ben C. J., Sistermans, Erik A., de Vries, Bert B. A., van Bokhoven, Hans
Publicado 2006

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

por Stevens, Servi J. C., van Essen, Anthonie J., van Ravenswaaij, Conny M. A., Elias, Abdallah F., Haven, Jaclyn A., Lelieveld, Stefan H., Pfundt, Rolph, Nillesen, Willy M., Yntema, Helger G., van Roozendaal, Kees, Stegmann, Alexander P., Gilissen, Christian, Brunner, Han G.
Publicado en Genome Med (2016)

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

por Kleefstra, Tjitske, Wortmann, Saskia B, Rodenburg, Richard J T, Bongers, Ernie M H F, Hadzsiev, Kinga, Noordam, Cees, van den Heuvel, Lambert P, Nillesen, Willy M, Hollody, Katalin, Gillessen-Kaesbach, Gabrielle, Lammens, Martin, Smeitink, Jan A M, van der Burgt, Ineke, Morava, Eva
Publicado 2011

Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings

por Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G
Publicado 2013

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

por 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
Publicado en Eur J Hum Genet (2015)

Diagnostic Genome Profiling in Mental Retardation

por de Vries, Bert B. A., Pfundt, Rolph, Leisink, Martijn, Koolen, David A., Vissers, Lisenka E. L. M., Janssen, Irene M., Reijmersdal, Simon van, Nillesen, Willy M., Huys, Erik H. L. P. G., Leeuw, Nicole de, Smeets, Dominique, Sistermans, Erik A., Feuth, Ton, van Ravenswaaij-Arts, Conny M. A., van Kessel, Ad Geurts, Schoenmakers, Eric F. P. M., Brunner, Han G., Veltman, Joris A.
Publicado 2005

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

por Martinelli, Simone, De Luca, Alessandro, Stellacci, Emilia, Rossi, Cesare, Checquolo, Saula, Lepri, Francesca, Caputo, Viviana, Silvano, Marianna, Buscherini, Francesco, Consoli, Federica, Ferrara, Grazia, Digilio, Maria C., Cavaliere, Maria L., van Hagen, Johanna M., Zampino, Giuseppe, van der Burgt, Ineke, Ferrero, Giovanni B., Mazzanti, Laura, Screpanti, Isabella, Yntema, Helger G., Nillesen, Willy M., Savarirayan, Ravi, Zenker, Martin, Dallapiccola, Bruno, Gelb, Bruce D., Tartaglia, Marco
Publicado 2010

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

por 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 CJ, van Bokhoven, Hans, de Brouwer, Arjan PM
Publicado 2009

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

por 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
Publicado 2009

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

por 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
Publicado 2012

Variants in CUL4B are Associated with Cerebral Malformations

por Vulto-van Silfhout, Anneke T., Nakagawa, Tadashi, Bahi-Buisson, Nadia, Haas, Stefan A., Hu, Hao, Bienek, Melanie, Vissers, Lisenka E.L.M., Gilissen, Christian, Tzschach, Andreas, Busche, Andreas, Müsebeck, Jörg, Rump, Patrick, Mathijssen, Inge B., Avela, Kristiina, Somer, Mirja, Doagu, Fatma, Philips, Anju K., Rauch, Anita, Baumer, Alessandra, Voesenek, Krysta, Poirier, Karine, Vigneron, Jacqueline, Amram, Daniel, Odent, Sylvie, Nawara, Magdalena, Obersztyn, Ewa, Lenart, Jacek, Charzewska, Agnieszka, Lebrun, Nicolas, Fischer, Ute, Nillesen, Willy M., Yntema, Helger G., Järvelä, Irma, Ropers, Hans-Hilger, de Vries, Bert B.A., Brunner, Han G., van Bokhoven, Hans, Raymond, F. Lucy, Willemsen, Michèl A.A.P., Chelly, Jamel, Xiong, Yue, Barkovich, A. James, Kalscheuer, Vera M., Kleefstra, Tjitske, de Brouwer, Arjan P.M.
Publicado en Hum Mutat (2015)

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

por Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publicado en Am J Hum Genet (2017)