Points to consider for laboratories reporting results from diagnostic genomic sequencing von Vears, D F, Sénécal, K, Clarke, A J, Jackson, L, Laberge, A M, Lovrecic, L, Piton, A, Van Gassen, K L I, Yntema, H G, Knoppers, B M, Borry, P

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Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations von Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, Bielas, Stephanie L.

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A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome von White, Susan M., Bhoj, Elizabeth, Nellåker, Christoffer, Lachmeijer, Augusta M.A., Marshall, Aren E., Boycott, Kym M., Li, Dong, Smith, Wendy, Hartley, Taila, McBride, Arran, Ernst, Michelle E., May, Alison S., Wieczorek, Dagmar, Abou Jamra, Rami, Koch-Hogrebe, Margarete, Õunap, Katrin, Pajusalu, Sander, van Gassen, K.L.I., Sadedin, Simon, Ellingwood, Sara, Tan, Tiong Yang, Christodoulou, John, Barea, Jaime, Lockhart, Paul J., Nezarati, Marjan M., Kernohan, Kristin D.

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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review von van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.

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Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability von Li, Lin, Ghorbani, Mohammad, Weisz-Hubshman, Monika, Rousseau, Justine, Thiffault, Isabelle, Schnur, Rhonda E., Breen, Catherine, Oegema, Renske, Weiss, Marjan M. M., Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A., Boon, Elles M. J., Basel-Salmon, Lina, Konen, Osnat, Goldberg-Stern, Hadassa, Bazak, Lily, Tzur, Shay, Jin, Jianliang, Bi, Xiuli, Bruccoleri, Michael, McWalter, Kirsty, Cho, Megan T., Scarano, Maria, Schaefer, G. Bradley, Brooks, Susan S., Hughes, Susan Starling, van Gassen, K. L., van Hagen, Johanna M., Pandita, Tej K., Agrawal, Pankaj B., Campeau, Philippe M., Yang, Xiang-Jiao

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Identification of C12orf4 as a gene for autosomal recessive intellectual disability von Philips, A.K., Pinelli, M., de Bie, C.I., Mustonen, A., Määttä, T., Arts, H.H., Wu, K., Roepman, R., Moilanen, J.S., Raza, S., Varilo, T., Scala, G., Cocozza, S., Gilissen, C., van Gassen, K.L.I., Järvelä, I.

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Chronic exposure to the chemokine CCL3 enhances neuronal network activity in rat hippocampal cultures von Kuijpers, M, van Gassen, K.L.I, de Graan, P.N.E, Gruol, D

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Characterization of febrile seizures and febrile seizure susceptibility in mouse inbred strains von Van Gassen, K. L. I., Hessel, E. V. S., Ramakers, G. M. J., Notenboom, R. G. E., Wolterink‐Donselaar, I. G., Brakkee, J. H., Godschalk, T. C., Qiao, X., Spruijt, B. M., Van Nieuwenhuizen, O., De Graan, P. N. E.

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High‐resolution genetic mapping of mammalian motor activity levels in mice von Kas, M. J. H., De Mooij‐van Malsen, J. G., De Krom, M., Van Gassen, K. L. I., Van Lith, H. A., Olivier, B., Oppelaar, H., Hendriks, J., De Wit, M., Groot Koerkamp, M. J. A., Holstege, F. C. P., Van Oost, B. A., De Graan, P. N. E.

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De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy von Tran Mau-Them, F., Guibaud, L., Duplomb, L., Keren, B., Lindstrom, K., Marey, I., Mochel, F., van den Boogaard, M. J., Oegema, R., Nava, C., Masurel, A., Jouan, T., Jansen, F. E., Au, M., Chen, Agnes H., Cho, M., Duffourd, Y., Lozier, E., Konovalov, F., Sharkov, A., Korostelev, S., Urteaga, B., Dickson, P., Vera, M., Martínez-Agosto, Julián A., Begemann, A., Zweier, M., Schmitt-Mechelke, T., Rauch, A., Philippe, C., van Gassen, K., Nelson, S., Graham, J. M., Friedman, J., Faivre, L., Lin, H. J., Thauvin-Robinet, C., Vitobello, A.

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Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures von Van Gassen, K. L. I., Van Der Hel, W. S., Hakvoort, T. B. M., Lamers, W. H., De Graan, P. N. E.

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Phenotyping mouse chromosome substitution strains reveal multiple QTLs for febrile seizure susceptibility von Hessel, E. V. S., Van Gassen, K. L. I., Wolterink‐Donselaar, I. G., Stienen, P. J., Fernandes, C., Brakkee, J. H., Kas, M. J. H., De Graan, P. N. E.

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High‐throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene von Maroteaux, G., Loos, M., Sluis, S., Koopmans, B., Aarts, E., Gassen, K., Geurts, A., Largaespada, D. A., Spruijt, B. M., Stiedl, O., Smit, A. B., Verhage, M.

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The chemokine CCL2 modulates Ca2+ dynamics and electrophysiological properties of cultured cerebellar Purkinje neurons von Van Gassen, K. L. I., Netzeband, J. G., De Graan, P. N. E., Gruol, D. L.

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Untargeted crossomics in a diagnostic setting von Jans, J., Willemsen, M., Haijes, H., Van Hasselt, P., Van De Ham, M., Gerrits, J., Fuchs, S., Van Gassen, K., Prinsen, B., Van Der Velden, M. De Sain, Verhoeven-Duif, N.

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PMD118 - Impact of Whole Exome Sequencing (WES) on Costs and Medical Decision-Making von Middelburg, P, Monroe, G, van Gassen, K, Hovels, A, Knoers, N, Vrijenhoek, T, Frederix, G

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Impact of Whole Exome Sequencing (WES) on Costs and Medical Decision-Making von Middelburg, P, Monroe, G, van Gassen, K, Hovels, A, Knoers, N, Vrijenhoek, T, Frederix, G

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Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission von Guo, Hui, Li, Ying, Shen, Lu, Wang, Tianyun, Jia, Xiangbin, Liu, Lijuan, Xu, Tao, Ou, Mengzhu, Hoekzema, Kendra, Wu, Huidan, Gillentine, Madelyn A, Liu, Cenying, Ni, Hailun, Peng, Pengwei, Zhao, Rongjuan, Zhang, Yu, Phornphutkul, Chanika, Stegmann, Alexander P A, Prada, Carlos E, Hopkin, Robert J, Shieh, Joseph T, McWalter, Kirsty, Monaghan, Kristin G, van Hasselt, Peter M, van Gassen, Koen, Bai, Ting, Long, Min, Han, Lin, Quan, Yingting, Chen, Meilin, Zhang, Yaowen, Li, Kuokuo, Zhang, Qiumeng, Tan, Jieqiong, Zhu, Tengfei, Liu, Yaning, Pang, Nan, Peng, Jing, Scott, Daryl A, Lalani, Seema R, Azamian, Mahshid, Mancini, Grazia M S, Adams, Darius J, Kvarnung, Malin, Lindstrand, Anna, Nordgren, Ann, Pevsner, Jonathan, Osei-Owusu, Ikeoluwa A, Romano, Corrado, Calabrese, Giuseppe, Galesi, Ornella, Gecz, Jozef, Haan, Eric, Ranells, Judith, Racobaldo, Melissa, Nordenskjold, Magnus, Madan-Khetarpal, Suneeta, Sebastian, Jessica, Ball, Susie, Zou, Xiaobing, Zhao, Jingping, Hu, Zhengmao, Xia, Fan, Liu, Pengfei, Rosenfeld, Jill A, de Vries, Bert B A, Bernier, Raphael A, Xu, Zhi-Qing David, Li, Honghui, Xie, Wei, Hufnagel, Robert B, Eichler, Evan E, Xia, Kun

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High-throughput phenotyping of avoidance learning in mice discriminates different genotypes and identifies a novel gene1 von Maroteaux, G., Loos, M., van der Sluis, S., Koopmans, B., Aarts, E., van Gassen, K., Geurts, A., Largaespada, D. A., Spruijt, B. M., Stiedl, O., Smit, A. B., Verhage, M.

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The chemokine CCL2 modulates Ca 2+ dynamics and electrophysiological properties of cultured cerebellar Purkinje neurons von Van Gassen, K. L. I., Netzeband, J. G., De Graan, P. N. E., Gruol, D. L.

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