Alpha-fetoprotein, a fascinating protein and biomarker in neurology by Schieving, J.H, de Vries, M, van Vugt, J.M.G, Weemaes, C, van Deuren, M, Nicolai, J, Wevers, R.A, Willemsen, M.A

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The diagnostic pathway in complex paediatric neurology: A cost analysis by van Nimwegen, K.J.M, Schieving, J.H, Willemsen, M.A.A.P, Veltman, J.A, van der Burg, S, van der Wilt, G.J, Grutters, J.P.C

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Telangiectasias: Small lesions referring to serious disorders by Schieving, J.H., Schoenaker, M.H.D., Weemaes, C.M., van Deuren, M., van der Flier, M., Seyger, M.M., Willemsen, M.A.A.P.

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Parental quality of life in complex paediatric neurologic disorders of unknown aetiology by van Nimwegen, K.J.M, Grutters, J.P.C, van der Wilt, G.J, Schieving, J.H, Willemsen, M.A.A.P, Donders, A.R.T, Verhaak, C.M, Kievit, W

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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia by Pennings, Maartje, Schouten, Meyke I, van Gaalen, Judith, Meijer, Rowdy P P, de Bot, Susanne T, Kriek, Marjolein, Saris, Christiaan G J, van den Berg, Leonard H, van Es, Michael A, Zuidgeest, Dick M H, Elting, Mariet W, van de Kamp, Jiddeke M, van Spaendonck-Zwarts, Karin Y, Die-Smulders, Christine de, Brilstra, Eva H, Verschuuren, Corien C, de Vries, Bert B A, Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A, Jaeger, B, Schieving, Jolanda H, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

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O54 – 1853 Manifestations of Cowden syndrome in childhood by Schieving, JH, Padberg, GWAM, Willemsen, MAAP

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RADIATION ONCOLOGY by Krishnan, P., Bernier-Chastagner, V., Desandes, E., Alapetite, C., Hankinson, T., Jones, D., Handler, M., Foreman, N., Liu, A., Smiley, N. P., Alden, T., Hartsell, W., Fangusaro, J., Hill-Kayser, C. E., Lustig, R. A., Waanders, A. J., Armstrong, C., Phillips, P. C., Paltin, I., Cole, K. A., Wells, E., Vezina, G., Kilburn, L., Packer, R., Janssens, G. O., van den Bosch, S., van Kollenburg, P. G., Gidding, C. E., Schieving, J. H., Kaanders, J. H., Pandit-Taskar, N., Souweidane, M. M., Wolden, S., DeSelm, C., Cheung, N.-K. V., Lassen-Ramshad, Y., Hansen, J., Petersen, J. B. B., Mahajan, A., Ris, D., Chintagumpala, M., Okcu, F., McAleer, M. F., Moore, B., Minard, C., Guffey, D., Kahalley, L., Blomgren, K., Xie, C., Zhu, C., Weinberg, J., Hughes, D., Anderson, P., Guha-Thakurta, N., Muller, K., Hoffmann, M., Seidel, C., Kordes, U., Sander, A., Rossler, J., Graf, N., Scheithauer, H., Kortmann, R.-D., Kramm, C. M., Jo, E., Paulino, A., Adesina, A., Ketonen, L., Jones, J., Su, J., Khatua, S., Dauser, R., Whitehead, W., Gandola, L., Pecori, E., Biassoni, V., Chiruzzi, C., Schiavello, E., Spreafico, F., Pignoli, E., Krishna, U., Goswami, S., Deodhar, J., Dutta, D., Kannan, S., Goel, A., Sarin, R., Ronghe, M., Murphy, D., Forbes, K., Indelicato, D., Tezcanli, E., Bilge, H., Yasemin, Yarar, Y., Okcu, M., Okcu, M. F., Tisell, M., Rydenhag, B., Caren, H.

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P45 – 1854 Telangiectasias as a neurocutaneous feature by Schieving, JH, Willemsen, MAAP, Seyger, M, Weemaes, C, Theelen, T

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DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG) by Morota, N., Donson, A., Birks, D., Patel, P., Foreman, N., Handler, M., Gandola, L., Schiavello, E., Pecori, E., Potepan, P., Janssens, G. O., Nowak, P. J., Oldenburger, F. R., Bouffet, E., Saran, F., van Ulzen, K. K., van Lindert, E. J., Boterberg, T., Kaspers, G. J., Howman, A., Pizer, B., Jones, D., Kearns, P., Wheatley, K., Gibson, M., Connolly, D., Nagashima, T., Yamamoto, K., Lober, R., Yeom, K., Jansen, M., Van Der Hoeven, E., Van Vuurden, D., De Bont, E., Peeters-Scholte, C., van Meeteren, A. S., Granzen, B., Noske, D., Barkhof, F., Vandertop, W. P., Kaspers, G., Nazarian, J., Mitra, S., Mallick, S., Nobre, L., Lima, G., Lima, M. A., Ferman, S., Leblond, P., Lansiaux, A., Rialland, X., Geoerger, B., Bernier-Chastagner, V., Bluml, S., Wong, K., Caretti, V., Lagerweij, T., Navis, A., Wesseling, P., Noske, D. P., Schroeder, K., Huang, E., Berlow, N., Becher, O., Taylor, I., Hutt, M., Nikkhah, G., Eberhart, C., Raabe, E., Misuraca, K., Zhou, Z., Rotman, L., Lim, K. J., Warren, K., Lightner, D., Haque, S., Khakoo, Y., Dunkel, I., Gilheeney, S., De Braganca, K., Ting-Rong, H., Kai-Ping, C., Tai-Tong, W., Hsin-Hung, C., Kebudi, R., Cakir, F. B., Agaoglu, F. Y., Gorgun, O., Dizdar, Y., Darendeliler, E., Zapotocky, M., Churackova, M., Kodet, R., Tichy, M., Minturn, J., Patti, R., Janss, A., Allen, J., Phillips, P., Jones, C.

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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology by Vissers, Lisenka E L M, van Nimwegen, Kirsten J M, Schieving, Jolanda H, Kamsteeg, Erik-Jan, Kleefstra, Tjitske, Yntema, Helger G, Pfundt, Rolph, van der Wilt, Gert Jan, Krabbenborg, Lotte, Brunner, Han G, van der Burg, Simone, Grutters, Janneke, Veltman, Joris A, Willemsen, Michèl A A P

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Interprofessional simulation of acute care for nursing and medical students: interprofessional competencies and transfer to the workplace by Krielen, Pepijn, Meeuwsen, Malon, Tan, Edward C T H, Schieving, Jolanda H, Ruijs, Annelies J E M, Scherpbier, Nynke D

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CERT1 mutations perturb human development by disrupting sphingolipid homeostasis by Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marjia, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A

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GRIN2A-related disorders: genotype and functional consequence predict phenotype by Strehlow, Vincent, Heyne, Henrike O, Vlaskamp, Danique R M, Marwick, Katie F M, Rudolf, Gabrielle, de Bellescize, Julitta, Biskup, Saskia, Brilstra, Eva H, Brouwer, Oebele F, Callenbach, Petra M C, Hentschel, Julia, Hirsch, Edouard, Kind, Peter C, Mignot, Cyril, Platzer, Konrad, Rump, Patrick, Skehel, Paul A, Wyllie, David J A, Hardingham, Giles E, van Ravenswaaij-Arts, Conny M A, Lesca, Gaetan, Lemke, Johannes R

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Mutations in RARS cause hypomyelination by Wolf, Nicole I., Salomons, Gajja S., Rodenburg, Richard J., Pouwels, Petra J. W., Schieving, Jolanda H., Derks, Terry G. J., Fock, Johanna M., Rump, Patrick, van Beek, Daphne M., van der Knaap, Marjo S., Waisfisz, Quinten

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Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests by Ferreira, Elise A., Veenvliet, Annemarijne R.J., Engelke, Udo F.H., Kluijtmans, Leo A.J., Huigen, Marleen C.D.G., Hoegen, Brechtje, de Boer, Lonneke, de Vries, Maaike C., van Bon, Bregje W., Leenders, Erika, Cornelissen, Elisabeth A.M., Haaxma, Charlotte A., Schieving, Jolanda H., Rubio-Gozalbo, M. Estela, Körver-Keularts, Irene M.L.W., Marten, Lara M., Diegmann, Susann, Mourmans, Jeroen, Rennings, Alexander J.M., van Karnebeek, Clara D.M., Rodenburg, Richard J., Coene, Karlien L.M.

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Histopathological phenotyping of cancers in PTEN Hamartoma Tumor Syndrome for improved recognition: A single‐center study by Schei‐Andersen, Ane J., Hendricks, Linda A. J., van der Post, Rachel S., Mensenkamp, Arjen R., Schieving, Jolanda, Schuurs‐Hoeijmakers, Janneke H. M., Hoogerbrugge, Nicoline, Vos, Janet R.

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Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome by Bormans, Esther M.G., Schuurs-Hoeijmakers, Janneke H.M., van Setten, Petra, Hendricks, Linda A.J., Drissen, Meggie M.C.M., Gotthardt, Martin, Claahsen-van der Grinten, Hedi L., Hoogerbrugge, Nicoline, Schieving, Jolanda H.

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Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling by 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 variants in KCNA3 cause developmental and epileptic encephalopathy by Soldovieri, Maria Virginia, Ambrosino, Paolo, Mosca, Ilaria, Servettini, Ilenio, Pietrunti, Francesca, Belperio, Giorgio, Syrbe, Steffen, Taglialatela, Maurizio, Lemke, Johannes R

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Palliative care for children: methodology for the development of a national clinical practice guideline by van Teunenbroek, Kim C, Kremer, Leontien C M, Verhagen, A A Eduard, Verheijden, Johannes M A, Rippen, Hester, Borggreve, Brigitt C M, Michiels, Erna M C, Mulder, Renée L

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