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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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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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 Mm, Waisfisz, Quinten, Welner, Sara, Kingston, Helen, Hills, Jordan A, Boon, Elles Mj, 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 I, van Hagen, Johanna M, Pandita, Tej K, Agrawal, Pankaj B, Campeau, Philippe M, Yang, Xiang-Jiao

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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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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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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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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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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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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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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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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy von Stokman, MF, van der Zwaag, B, van de Kar, NCAJ, van Haelst, MM, van Eerde, AM, van der Heijden, JW, Kroes, HY, Ippel, E, Schulp, AJA, van Gassen, KL, van Rooij, IALM, Giles, RH, Beales, PL, Roepman, R, Arts, HH, Bongers, EMHF, Renkema, KY, Knoers, NVAM, van Reeuwijk, J, Lilien, MR

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Monocyte-driven atypical cytokine storm and aberrant neutrophil activation as key mediators of COVID-19 disease severity von Vanderbeke, L., Van Mol, P., Van Herck, Y., De Smet, F., Humblet-Baron, S., Martinod, K., Antoranz, A., Arijs, I., Boeckx, B., Bosisio, F. M., Casaer, M., Dauwe, D., De Wever, W., Dooms, C., Dreesen, E., Emmaneel, A., Filtjens, J., Gouwy, M., Gunst, J., Hermans, G., Jansen, S., Lagrou, K., Liston, A., Lorent, N., Meersseman, P., Mercier, T., Neyts, J., Odent, J., Panovska, D., Penttila, P. A., Pollet, E., Proost, P., Qian, J., Quintelier, K., Raes, J., Rex, S., Saeys, Y., Sprooten, J., Tejpar, S., Testelmans, D., Thevissen, K., Van Buyten, T., Vandenhaute, J., Van Gassen, S., Velásquez Pereira, L. C., Vos, R., Weynand, B., Wilmer, A., Yserbyt, J., Garg, A. D., Matthys, P., Wouters, C., Lambrechts, D., Wauters, E., Wauters, J.

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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss von Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling von Snijders Blok, Lot, Madsen, Erik, Juusola, Jane, Gilissen, Christian, Baralle, Diana, Reijnders, Margot R.F., Venselaar, Hanka, Helsmoortel, Céline, Cho, Megan T., Hoischen, Alexander, Vissers, Lisenka E.L.M., Koemans, Tom S., Wissink-Lindhout, Willemijn, Eichler, Evan E., Romano, Corrado, Van Esch, Hilde, Stumpel, Connie, Vreeburg, Maaike, Smeets, Eric, Oberndorff, Karin, van Bon, Bregje W.M., Shaw, Marie, Gecz, Jozef, Haan, Eric, Bienek, Melanie, Jensen, Corinna, Loeys, Bart L., Van Dijck, Anke, Innes, A. Micheil, Racher, Hilary, Vermeer, Sascha, Di Donato, Nataliya, Rump, Andreas, Tatton-Brown, Katrina, Parker, Michael J., Henderson, Alex, Lynch, Sally A., Fryer, Alan, Ross, Alison, Vasudevan, Pradeep, Kini, Usha, Newbury-Ecob, Ruth, Chandler, Kate, Male, Alison, Dijkstra, Sybe, Schieving, Jolanda, Giltay, Jacques, van Gassen, Koen L.I., Schuurs-Hoeijmakers, Janneke, Tan, Perciliz L., Pediaditakis, Igor, Haas, Stefan A., Retterer, Kyle, Reed, Patrick, Monaghan, Kristin G., Haverfield, Eden, Natowicz, Marvin, Myers, Angela, Kruer, Michael C., Stein, Quinn, Strauss, Kevin A., Brigatti, Karlla W., Keating, Katherine, Burton, Barbara K., Kim, Katherine H., Charrow, Joel, Norman, Jennifer, Foster-Barber, Audrey, Kline, Antonie D., Kimball, Amy, Zackai, Elaine, Harr, Margaret, Fox, Joyce, McLaughlin, Julie, Lindstrom, Kristin, Haude, Katrina M., van Roozendaal, Kees, Brunner, Han, Chung, Wendy K., Kooy, R. Frank, Pfundt, Rolph, Kalscheuer, Vera, Mehta, Sarju G., Katsanis, Nicholas, Kleefstra, Tjitske

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De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability von Küry, Sébastien, van Woerden, Geeske M., Besnard, Thomas, Proietti Onori, Martina, Latypova, Xénia, Towne, Meghan C., Cho, Megan T., Ploeg, Melissa A., Sanders, Stephan, Stessman, Holly A.F., Pujol, Aurora, Distel, Ben, Robak, Laurie A., Bernstein, Jonathan A., Denommé-Pichon, Anne-Sophie, Lesca, Gaëtan, Sellars, Elizabeth A., Berg, Jonathan, Carré, Wilfrid, Busk, Øyvind Løvold, van Bon, Bregje W.M., Waugh, Jeff L., Deardorff, Matthew, Hoganson, George E., Bosanko, Katherine B., Johnson, Diana S., Dabir, Tabib, Holla, Øystein Lunde, Sarkar, Ajoy, Tveten, Kristian, de Bellescize, Julitta, Braathen, Geir J., Terhal, Paulien A., Grange, Dorothy K., van Haeringen, Arie, Lam, Christina, Mirzaa, Ghayda, Burton, Jennifer, Bhoj, Elizabeth J., Douglas, Jessica, Santani, Avni B., Nesbitt, Addie I., Helbig, Katherine L., Andrews, Marisa V., Begtrup, Amber, Tang, Sha, van Gassen, Koen L.I., Juusola, Jane, Foss, Kimberly, Enns, Gregory M., Moog, Ute, Hinderhofer, Katrin, Paramasivam, Nagarajan, Lincoln, Sharyn, Kusako, Brandon H., Lindenbaum, Pierre, Charpentier, Eric, Nowak, Catherine B., Cherot, Elouan, Simonet, Thomas, Ruivenkamp, Claudia A.L., Hahn, Sihoun, Brownstein, Catherine A., Xia, Fan, Schmitt, Sébastien, Deb, Wallid, Bonneau, Dominique, Nizon, Mathilde, Chelly, Jamel, Rudolf, Gabrielle, Sanlaville, Damien, Parent, Philippe, Gilbert-Dussardier, Brigitte, Toutain, Annick, Sutton, Vernon R., Thies, Jenny, Peart-Vissers, Lisenka E.L.M., Boisseau, Pierre, Vincent, Marie, Grabrucker, Andreas M., Dubourg, Christèle, Tan, Wen-Hann, Verbeek, Nienke E., Granzow, Martin, Santen, Gijs W.E., Shendure, Jay, Pasquier, Laurent, Redon, Richard, Yang, Yaping, State, Matthew W., Kleefstra, Tjitske, Cogné, Benjamin, Petrovski, Slavé, Retterer, Kyle, Eichler, Evan E., Rosenfeld, Jill A., Agrawal, Pankaj B., Bézieau, Stéphane, Odent, Sylvie, Mercier, Sandra

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High dimensional profiling identifies specific immune types along the recovery trajectories of critically ill COVID19 patients von Penttilä, P. A., Van Gassen, S., Panovska, D., Vanderbeke, L., Van Herck, Y., Quintelier, K., Emmaneel, A., Filtjens, J., Malengier-Devlies, B., Ahmadzadeh, K., Van Mol, P., Borràs, D. M., Antoranz, A., Bosisio, F. M., Wauters, E., Martinod, K., Matthys, P., Saeys, Y., Garg, A. D., Wauters, J., De Smet, F.

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