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

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

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Genomic microarrays in mental retardation: A practical workflow for diagnostic applications von Koolen, David A, Pfundt, Rolph, de Leeuw, Nicole, Hehir-Kwa, Jayne Y, Nillesen, Willy M, Neefs, Ineke, Scheltinga, Ine, Sistermans, Erik, Smeets, Dominique, Brunner, Han G, van Kessel, Ad Geurts, Veltman, Joris A, de Vries, Bert B.A

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Novel genetic causes for cerebral visual impairment von 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

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

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Novel genetic causes for cerebral visual impairment von Bosch, Daniëlle G M, Boonstra, F Nienke, de Leeuw, Nicole, Pfundt, Rolph, Nillesen, Willy M, de Ligt, Joep, Gilissen, Christian, Jhangiani, Shalini, Lupski, James R, Cremers, Frans P M, de Vries, Bert B A

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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway von KLEEFSTRA, Tjitske, WORTMANN, Saskia B, LAMMENS, Martin, SMEITINK, Jan Am, VAN DER BURGT, Ineke, MORAVA, Eva, RODENBURG, Richard Jt, BONGERS, Ernie Mhf, HADZSIEV, Kinga, NOORDAM, Cees, VAN DEN HEUVEL, Lambert P, NILLESEN, Willy M, HOLLODY, Katalin, GILLESSEN-KAESBACH, Gabrielle

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Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma von Jongmans, Marjolijn C. J., Hoogerbrugge, Peter M., Hilkens, Linda, Flucke, Uta, van der Burgt, Ineke, Noordam, Kees, Ruiterkamp-Versteeg, Martina, Yntema, Helger G., Nillesen, Willy M., Ligtenberg, Marjolijn J. L., van Kessel, Ad Geurts, Kuiper, Roland P., Hoogerbrugge, Nicoline

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Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability von Willemsen, Marjolein H, Vallès, Astrid, Kirkels, Laurens A M H, Mastebroek, Mathilde, Olde Loohuis, Nikkie, Kos, Aron, Wissink-Lindhout, Willemijn M, de Brouwer, Arjan P M, Nillesen, Willy M, Pfundt, Rolph, Holder-Espinasse, Muriel, Vallée, Louis, Andrieux, Joris, Coppens-Hofman, Marjolein C, Rensen, Hanneke, Hamel, Ben C J, van Bokhoven, Hans, Aschrafi, Armaz, Kleefstra, Tjitske

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Genotypic and phenotypic characterization of Noonan syndrome: New data and review of the literature von Jongmans, Marjolijn, Sistermans, Erik A., Rikken, Alwin, Nillesen, Willy M., Tamminga, Rienk, Patton, Michael, Maier, Esther M., Tartaglia, Marco, Noordam, Kees, van der Burgt, Ineke

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The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies von Shen, Wei, Heeley, Jennifer M., Carlston, Colleen M., Acuna‐Hidalgo, Rocio, Nillesen, Willy M., Dent, Karin M., Douglas, Ganka V., Levine, Kara L., Bayrak‐Toydemir, Pinar, Marcelis, Carlo L., Shinawi, Marwan, Carey, John C.

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

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Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome von Vissers, Lisenka E L M, 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

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Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation von JONGMANS, Marjolijn C. J, VAN DER BURGT, Ineke, KIEMENEY, Lambertus A. L. M, HOOGERBRUGGE, Nicoline, HOOGERBRUGGE, Peter M, NOORDAM, Kees, YNTEMA, Helger G, NILLESEN, Willy M, KUIPER, Roland P, LIGTENBERG, Marjolijn J. L, VAN KESSEL, Ad Geurts, VAN KRIEKEN, J. Han J. M

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

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A cytogenetic study in a large population of intellectually disabled Indonesians von Mundhofir, Farmaditya E P, Winarni, Tri Indah, van Bon, Bregje W, Aminah, Siti, Nillesen, Willy M, Merkx, Gerard, Smeets, Dominique, Hamel, Ben C J, Faradz, Sultana M H, Yntema, Helger G

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GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila von Willemsen, Marjolein H, Nijhof, Bonnie, Fenckova, Michaela, Nillesen, Willy M, Bongers, Ernie M H F, Castells-Nobau, Anna, Asztalos, Lenke, Viragh, Erika, van Bon, Bregje W M, Tezel, Emre, Veltman, Joris A, Brunner, Han G, de Vries, Bert B A, de Ligt, Joep, Yntema, Helger G, van Bokhoven, Hans, Isidor, Bertrand, Le Caignec, Cédric, Lorino, Elsa, Asztalos, Zoltan, Koolen, David A, Vissers, Lisenka E L M, Schenck, Annette, Kleefstra, Tjitske

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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, 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, OUDAKKER, Astrid R, GECZ, Jozef, HAMEL, Ben C. J, VAN BOKHOVEN, Hans, DE BROUWER, Arjan P. M, NILLESEN, Willy M, YNTEMA, Helger G, TZSCHACH, Andreas, RAYNAUD, Martine, RATING, Dietz, JOURNEL, Hubert, CHELLY, Jamel

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

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

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