De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia von Haijes, Hanneke A., Koster, Maria J.E., Rehmann, Holger, Li, Dong, Hakonarson, Hakon, Cappuccio, Gerarda, Hancarova, Miroslava, Lehalle, Daphne, Reardon, Willie, Schaefer, G. Bradley, Lehman, Anna, van de Laar, Ingrid M.B.H., Tesselaar, Coranne D., Turner, Clesson, Goldenberg, Alice, Patrier, Sophie, Thevenon, Julien, Pinelli, Michele, Brunetti-Pierri, Nicola, Prchalová, Darina, Havlovicová, Markéta, Vlckova, Markéta, Sedláček, Zdeněk, Lopez, Elena, Ragoussis, Vassilis, Pagnamenta, Alistair T., Kini, Usha, Vos, Harmjan R., van Es, Robert M., van Schaik, Richard F.M.A., van Essen, Ton A.J., Kibaek, Maria, Taylor, Jenny C., Sullivan, Jennifer, Shashi, Vandana, Petrovski, Slave, Fagerberg, Christina, Martin, Donna M., van Gassen, Koen L.I., Pfundt, Rolph, Falk, Marni J., McCormick, Elizabeth M., Timmers, H.T. Marc, van Hasselt, Peter M.

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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature von van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

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Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature von van Jaarsveld, Richard H, Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A, Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Bellanger, Severine Audebert, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C, Ciolfi, Andrea, van Essen, Ton A J, Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M, Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A, Lewis, M E Suzanne, Lichty, Angie, Mannens, Marcel M A M, Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A, Yosovich, Keren, Yuskaitis, Christopher J, Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske

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Practical guidelines for interpreting copy number gains detected by high-resolution array CGH in routine diagnostics von van Ravenswaaij-Arts, Conny M.A., Sikkema-Raddatz, Birgit, van Der Vries, Gerben, Dijkhuizen, Trijnie, Hanemaaijer, Nicolien M., Hordijk, Roel, van Essen, Ton J., Veenstra-Knol, Irma (h.) E., Kerstjens-Frederikse, W S, Herkert, J C, Gerkes, Erica, Leegte, Beike (l.) K., Kok, Klaas, Sinke, Richard J.

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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature von Reijnders, Margot R. F, Janowski, Robert, Alvi, Mohsan, Self, Jay E, Essen, Ton J. van, Vreeburg, Maaike, Rouhl, Rob P. W, Stevens, Servi J. C, Stegmann, Alexander P. A, Schieving, Jolanda, Pfundt, Rolph, Dijk, Katinke van, Smeets, Eric, Stumpel, Connie T. R. M, Bok, Levinus A, Cobben, Jan Maarten, Engelen, Marc, Mansour, Sahar, Whiteford, Margo, Chandler, Kate E, Douzgou, Sofia, Cooper, Nicola S, Tan, Ene-Choo, Foo, Roger, Lai, Angeline H. M, Rankin, Julia, Green, Andrew, Loennqvist, Tuula, Isohanni, Pirjo, Williams, Shelley, Ruhoy, Ilene, Carvalho, Karen S, Dowling, James J, Lev, Dorit L, Sterbova, Katalin, Lassuthova, Petra, Neupauerova, Jana, Waugh, Jeff L, Keros, Sotirios, Clayton-Smith, Jill, Smithson, Sarah F, Brunner, Han G, Hoeckel, Ceciel van, Anderson, Mel, Clowes, Virginia E, Siu, Victoria Mok, Selber, Paulo, Leventer, Richard J, Nellaker, Christoffer, Niessing, Dierk, Hunt, David, Baralle, Diana

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Inhibition of complement activation by CD55 overexpression in human induced pluripotent stem cell derived kidney organoids von Gaykema, Lonneke H, van Nieuwland, Rianne Y, Dekkers, Mette C, van Essen, Mieke F, Heidt, Sebastiaan, Zaldumbide, Arnaud, van den Berg, Cathelijne W, Rabelink, Ton J, van Kooten, Cees

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Germline Mutations in the Spindle Assembly Checkpoint Genes BUB1 and BUB3 Are Risk Factors for Colorectal Cancer von de Voer, Richarda M, Geurts van Kessel, Ad, Weren, Robbert D.A, Ligtenberg, Marjolijn J.L, Smeets, Dominique, Fu, Lei, Vreede, Lilian, Kamping, Eveline J, Verwiel, Eugène T.P, Hahn, Marc–Manuel, Ariaans, Maayke, Spruijt, Liesbeth, van Essen, Ton, Houge, Gunnar, Schackert, Hans K, Sheng, Jian Q, Venselaar, Hanka, van Ravenswaaij–Arts, Conny M.A, van Krieken, J. Han J.M, Hoogerbrugge, Nicoline, Kuiper, Roland P

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Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies von Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kevie-Kersemaekers, Anne-Marie, Pfundt, Rolph, Mieloo, Hanneke, van Essen, Ton, de Vries, Bert B A, Green, Andrew, Reardon, Willie, Fryns, Jean-Pierre, Vermeesch, Joris R

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances von Doornbos, Marianne, Sikkema-Raddatz, Birgit, Ruijvenkamp, Claudia A.L, Dijkhuizen, Trijnie, Bijlsma, Emilia K, Gijsbers, Antoinet C.J, Hilhorst-Hofstee, Yvonne, Hordijk, Roel, Verbruggen, Krijn T, Kerstjens-Frederikse, W.S. (Mieke), van Essen, Ton, Kok, Klaas, van Silfhout, Anneke T, Breuning, Martijn, van Ravenswaaij-Arts, Conny M.A

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CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language von Blok, Lot Snijders, Rousseau, Justine, Twist, Joanna, Ehresmann, Sophie, Takaku, Motoki, Venselaar, Hanka, Rodan, Lance H, Nowak, Catherine B, Douglas, Jessica, Swoboda, Kathryn J, Steeves, Marcie A, Sahai, Inderneel, Stumpel, Connie T. R. M, Stegmann, Alexander P. A, Wheeler, Patricia, Willing, Marcia, Fiala, Elise, Kochhar, Aaina, Gibson, William T, Cohen, Ana S. A, Agbahovbe, Ruky, Innes, A. Micheil, Au, P. Y. Billie, Rankin, Julia, Anderson, Ilse J, Skinner, Steven A, Louie, Raymond J, Warren, Hannah E, Afenjar, Alexandra, Keren, Boris, Nava, Caroline, Buratti, Julien, Isapof, Arnaud, Rodriguez, Diana, Lewandowski, Raymond, Propst, Jennifer, van Essen, Ton, Choi, Murim, Lee, Sangmoon, Chae, Jong H, Price, Susan, Schnur, Rhonda E, Douglas, Ganka, Wentzensen, Ingrid M, Zweier, Christiane, Reis, Andre, Bialer, Martin G, Moore, Christine, Koopmans, Marije, Brilstra, Eva H, Monroe, Glen R, van Gassen, Koen L., I, van Binsbergen, Ellen, Newbury-Ecob, Ruth, Bownass, Lucy, Bader, Ingrid, Mayr, Johannes A, Wortmann, Saskia B, Jakielski, Kathy J, Strand, Edythe A, Kloth, Katja, Bierhals, Tatjana, Roberts, John D, Petrovich, Robert M, Machida, Shinichi, Kurumizaka, Hitoshi, Lelieveld, Stefan, Pfundt, Rolph, Jansen, Sandra, Deriziotis, Pelagia, Faive, Laurence, Thevenon, Julien, Assoum, Mirna, Shriberg, Lawrence, Kleefstra, Tjitske, Brunner, Han G, Wade, Paul A, Fisher, Simon E, Campeau, Philippe M

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A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy von de Brouwer, Arjan P M, Nabuurs, Sander B, Verhaart, Ingrid E C, Oudakker, Astrid R, Hordijk, Roel, Yntema, Helger G, Hordijk-Hos, Jannet M, Voesenek, Krysta, de Vries, Bert B A, van Essen, Ton, Chen, Wei, Hu, Hao, Chelly, Jamel, den Dunnen, Johan T, Kalscheuer, Vera M, Aartsma-Rus, Annemieke M, Hamel, Ben C J, van Bokhoven, Hans, Kleefstra, Tjitske

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Molecular study of 33 families with Fraser syndrome new data and mutation review von van Haelst, M.M., Maiburg, M., Baujat, G., Jadeja, S., Monti, E., Bland, E., Pearce, K., Hennekam, R.C., Scambler, P.J.

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Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria von van Haelst, Mieke M., Scambler, Peter J., Hennekam, Raoul C.M.

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La crise écologique et l'éthique théologique von Link, Christian

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Identification of copy number variants associated with BPES-like phenotypes von Gijsbers, Antoinet C. J., D’haene, Barbara, Hilhorst-Hofstee, Yvonne, Mannens, Marcel, Albrecht, Beate, Seidel, Joerg, Witt, David R., Maisenbacher, Melissa K., Loeys, Bart, van Essen, Ton, Bakker, Egbert, Hennekam, Raoul, Breuning, Martijn H., De Baere, Elfride, Ruivenkamp, Claudia A. L.

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FISH and array‐CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions von Dijkhuizen, Trijnie, van Essen, Ton, van der Vlies, Pieter, Verheij, Joke B.G.M., Sikkema‐Raddatz, Birgit, van der Veen, Anneke Y., Gerssen‐Schoorl, Klasien B.J., Buys, Charles H.C.M., Kok, Klaas

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Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation von Kok, Klaas, Dijkhuizen, Trijnie, Swart, Yolanthe E., Zorgdrager, Hanny, van der Vlies, Pieter, Fehrmann, Rudolf, te Meerman, Gerard J., Gerssen-Schoorl, Klasien B.J., van Essen, Ton, Sikkema-Raddatz, Birgit, Buys, Charles H.C.M.

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Autosomal Recessive Disorder Otospondylomegaepiphyseal Dysplasia Is Associated with Loss-of-Function Mutations in the COL11A2 Gene von Melkoniemi, Miia, Brunner, Han G., Manouvrier, Sylvie, Hennekam, Raoul, Superti-Furga, Andrea, Kääriäinen, Helena, Pauli, Richard M., van Essen, Ton, Warman, Matthew L., Bonaventure, Jacky, Miny, Peter, Ala-Kokko, Leena

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Ulysse von Henry Guichard

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Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader―Willi critical region, possibly associated with behavioural disturbances: Emerging Microdeletio... von DOORNBOS, Marianne, SIKKEMA-RADDATZ, Birgit, VAN ESSEN, Ton, KOK, Klaas, VAN SILFHOUT, Anneke T, BREUNING, Martijn, VAN RAVENSWAAIJ-ARTS, Conny M. A, RUIJVENKAMP, Claudia A. L, DIJKHUIZEN, Trijnie, BIJLSMA, Emilia K, GIJSBERS, Antoinet C. J, HILHORST-HOFSTEE, Yvonne, HORDIJK, Roel, VERBRUGGEN, Krijn T, KERSTJENS-FREDERIKSE, W. S

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