Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia von Ebrahimi-Fakhari, Darius, Alecu, Julian E., Ziegler, Marvin, Geisel, Gregory, Jordan, Catherine, D'Amore, Angelica, Yeh, Rebecca C., Akula, Shyam K., Saffari, Afshin, Prabhu, Sanjay P., Sahin, Mustafa, Yang, Edward

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Copy-Number Gains of HUWE1 Due to Replication- and Recombination-Based Rearrangements von Froyen, Guy, Belet, Stefanie, Martinez, Francisco, Santos-Rebouças, Cíntia Barros, Declercq, Matthias, Verbeeck, Jelle, Donckers, Lene, Berland, Siren, Mayo, Sonia, Rosello, Monica, Pimentel, Márcia Mattos Gonçalves, Fintelman-Rodrigues, Natalia, Hovland, Randi, Rodrigues dos Santos, Suely, Raymond, F. Lucy, Bose, Tulika, Corbett, Mark A., Sheffield, Leslie, van Ravenswaaij-Arts, Conny M.A., Dijkhuizen, Trijnie, Coutton, Charles, Satre, Veronique, Siu, Victoria, Marynen, Peter

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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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Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map von Feenstra, Ilse, Vissers, Lisenka E.L.M., Orsel, Mirjam, van Kessel, Ad Geurts, Brunner, Han G., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A.

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SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy von Vlaskamp, Danique R.M, Shaw, Benjamin J, Burgess, Rosemary, Mei, Davide, Montomoli, Martino, Xie, Han, Myers, Candace T, Bennett, Mark F, XiangWei, Wenshu, Williams, Danielle, Maas, Saskia M, Brooks, Alice S, Mancini, Grazia M.S, van de Laar, Ingrid M.B.H, van Hagen, Johanna M, Ware, Tyson L, Webster, Richard I, Malone, Stephen, Berkovic, Samuel F, Kalnins, Renate M, Sicca, Federico, Korenke, G Christoph, van Ravenswaaij-Arts, Conny M.A, Hildebrand, Michael S, Mefford, Heather C, Jiang, Yuwu, Guerrini, Renzo, Scheffer, Ingrid E

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Anosmia Predicts Hypogonadotropic Hypogonadism in CHARGE Syndrome von Bergman, Jorieke E.H., MD, Bocca, Gianni, MD, Hoefsloot, Lies H., MD, PhD, Meiners, Linda C., MD, PhD, van Ravenswaaij-Arts, Conny M.A., MD, PhD

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Diagnostic Genome Profiling in Mental Retardation von 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.

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Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C von Auer-Grumbach, Michaela, Olschewski, Andrea, Papić, Lea, Kremer, Hannie, McEntagart, Meriel E, Uhrig, Sabine, Fischer, Carina, Fröhlich, Eleonore, Bálint, Zoltán, Tang, Bi, Strohmaier, Heimo, Lochmüller, Hanns, Schlotter-Weigel, Beate, Senderek, Jan, Krebs, Angelika, Dick, Katherine J, Petty, Richard, Longman, Cheryl, Anderson, Neil E, Padberg, George W, Schelhaas, Helenius J, van Ravenswaaij-Arts, Conny M A, Pieber, Thomas R, Crosby, Andrew H, Guelly, Christian

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De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations von Reijnders, Margot R.F., Zachariadis, Vasilios, Latour, Brooke, Jolly, Lachlan, Mancini, Grazia M., Pfundt, Rolph, Wu, Ka Man, van Ravenswaaij-Arts, Conny M.A., Veenstra-Knol, Hermine E., Anderlid, Britt-Marie M., Wood, Stephen A., Cheung, Sau Wai, Barnicoat, Angela, Probst, Frank, Magoulas, Pilar, Brooks, Alice S., Malmgren, Helena, Harila-Saari, Arja, Marcelis, Carlo M., Vreeburg, Maaike, Hobson, Emma, Sutton, V. Reid, Stark, Zornitza, Vogt, Julie, Cooper, Nicola, Lim, Jiin Ying, Price, Sue, Lai, Angeline Hwei Meeng, Domingo, Deepti, Reversade, Bruno, Gecz, Jozef, Gilissen, Christian, Brunner, Han G., Kini, Usha, Roepman, Ronald, Nordgren, Ann, Kleefstra, Tjitske

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Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity von Witteveen, Josefine S, Willemsen, Marjolein H, Dombroski, Thaís C D, van Bakel, Nick H M, Nillesen, Willy M, van Hulten, Josephus A, Jansen, Eric J R, Verkaik, Dave, Veenstra-Knol, Hermine E, van Ravenswaaij-Arts, Conny M A, Wassink-Ruiter, Jolien S Klein, Vincent, Marie, David, Albert, Le Caignec, Cedric, Schieving, Jolanda, Gilissen, Christian, Foulds, Nicola, Rump, Patrick, Strom, Tim, Cremer, Kirsten, Zink, Alexander M, Engels, Hartmut, de Munnik, Sonja A, Visser, Jasper E, Brunner, Han G, Martens, Gerard J M, Pfundt, Rolph, Kleefstra, Tjitske, Kolk, Sharon M

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome von Rivière, Jean-Baptiste, van Bon, Bregje W M, Hoischen, Alexander, Kholmanskikh, Stanislav S, O'Roak, Brian J, Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T, Christian, Susan L, Abdul-Rahman, Omar A, Atkin, Joan F, Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew E, Fryns, Jean-Pierre, Gripp, Karen W, Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M S, Nowaczyk, Małgorzata J M, van Ravenswaaij-Arts, Conny M A, Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A, Siu, Victoria M, de Vries, Bert B A, Shendure, Jay, Verloes, Alain, Veltman, Joris A, Brunner, Han G, Ross, M Elizabeth, Pilz, Daniela T, Dobyns, William B

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Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities von Vissers, Lisenka E.L.M., de Vries, Bert B.A., Osoegawa, Kazutoyo, Janssen, Irene M., Feuth, Ton, Choy, Chik On, Straatman, Huub, van der Vliet, Walter, Huys, Erik H.L.P.G., van Rijk, Anke, Smeets, Dominique, van Ravenswaaij-Arts, Conny M.A., Knoers, Nine V., van der Burgt, Ineke, de Jong, Pieter J., Brunner, Han G., van Kessel, Ad Geurts, Schoenmakers, Eric F.P.M., Veltman, Joris A.

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The introduction of arrays in prenatal diagnosis: A special challenge von Vetro, Annalisa, Bouman, Katelijne, Hastings, Ros, McMullan, Dominic J., Vermeesch, Joris R., Miller, Konstantin, Sikkema-Raddatz, Birgit, Ledbetter, David H., Zuffardi, Orsetta, van Ravenswaaij-Arts, Conny M.A.

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A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome von Bergman, Jorieke E.H., Janssen, Nicole, van der Sloot, Almer M., de Walle, Hermien E.K., Schoots, Jeroen, Rendtorff, Nanna D., Tranebjærg, Lisbeth, Hoefsloot, Lies H., van Ravenswaaij-Arts, Conny M.A., Hofstra, Robert M.W.

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Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children von Zwanenburg, Renée J, Ruiter, Selma A J, van den Heuvel, Edwin R, Flapper, Boudien C T, Van Ravenswaaij-Arts, Conny M A

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An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2 von van der Zwaag, Paul A, Dijkhuizen, Trijnie, Gerssen-Schoorl, Klasien B.J, Colijn, Anja W, Broens, Paul M.A, Flapper, Boudien C.T, van Ravenswaaij-Arts, Conny M.A

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Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy von Vlaskamp, Danique R.M, Rump, Patrick, Callenbach, Petra M.C, Vos, Yvonne J, Sikkema-Raddatz, Birgit, van Ravenswaaij-Arts, Conny M.A, Brouwer, Oebele F

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Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability von Jongmans, Marjolijn C.J., Hoefsloot, Lies H., van der Donk, Kim P., Admiraal, Ronald J., Magee, Alex, van de Laar, Ingrid, Hendriks, Yvonne, Verheij, Joke B.G.M., Walpole, Ian, Brunner, Han G., van Ravenswaaij, Conny M.A.

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Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans von Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.

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The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies von Gerkes, Erica H, van der Kevie-Kersemaekers, Anne-Marie F, Yakin, Mariam, Smeets, Dominique F.C.M, van Ravenswaaij-Arts, Conny M.A

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