Alpha-fetoprotein, a fascinating protein and biomarker in neurology von 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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Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases von Krabbenborg, Lotte, Vissers, L. E. L. M., Schieving, J., Kleefstra, T., Kamsteeg, E. J., Veltman, J. A., Willemsen, M. A., Van der Burg, S.

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The diagnostic pathway in complex paediatric neurology: A cost analysis von 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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Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs von Krabbenborg, L., Schieving, J., Kleefstra, T., Vissers, L.E.L.M., Willemsen, M.A., Veltman, J.A., van der Burg, S.

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Sciatica-like symptoms and the sacroiliac joint: clinical features and differential diagnosis von Visser, L. H., Nijssen, P. G. N., Tijssen, C. C., van Middendorp, J. J., Schieving, J.

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

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Telangiectasias: Small lesions referring to serious disorders von 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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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia von Pennings, Maartje, Schouten, Meyke, 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., de Die-Smulders, Christine, 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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The Cost-Effectiveness of whole-Exome Sequencing in Complex Paediatric Neurology von van Nimwegen, K, Vissers, L, Willemsen, M, Schieving, J, Veltman, J, van Der Wilt, G, Grutters, JP

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PMD57 - The Cost-Effectiveness of whole-Exome Sequencing in Complex Paediatric Neurology von van Nimwegen, K, Vissers, L, Willemsen, M, Schieving, J, Veltman, J, van Der Wilt, G, Grutters, JP

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Malignant migrating partial seizures in a 4-month-old boy von Gilhuis, H. Jacobus, Schieving, Jolanda, Zwarts, Machiel J.

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RADIATION ONCOLOGY von Kunheri, B., Arjunan, A., Krishnan, P., Pillai, B., Prasad, S., Bernier-Chastagner, V., Desandes, E., Carrie, C., 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., Minturn, J. E., Both, S., Waanders, A. J., Belasco, J. B., Armstrong, C., Phillips, P. C., Fisher, M. J., Paltin, I., Cole, K. A., Wells, E., Vezina, G., Kilburn, L., Rood, B., Crozier, F., Hwang, E., Packer, R., Janssens, G. O., van den Bosch, S., van Kollenburg, P. G., Gidding, C. E., Schieving, J. H., Kaanders, J. H., van Lindert, E. J., Kramer, K., Pandit-Taskar, N., Souweidane, M. M., Wolden, S., DeSelm, C., Cheung, N.-K. V., Lassen-Ramshad, Y., Hansen, J., Seiersen, K., Petersen, J. B. B., Mahajan, A., Grosshans, D., Ris, D., Chintagumpala, M., Okcu, F., McAleer, M. F., Moore, B., Stancel, H., Minard, C., Guffey, D., Kahalley, L., Blomgren, K., Zhou, K., Xie, C., Zhu, C., Zhao, Z., Weinberg, J., Sandberg, D., Hughes, D., Anderson, P., Guha-Thakurta, N., Muller, K., Hoffmann, M., Seidel, C., Warmuth-Metz, M., Pietsch, T., Kordes, U., Sander, A., Rossler, J., Graf, N., Scheithauer, H., Kortmann, R.-D., Kramm, C. M., von Bueren, A. O., Gunther, J., Sato, M., Jo, E., Paulino, A., Adesina, A., Ketonen, L., Jones, J., Su, J., Khatua, S., Dauser, R., Whitehead, W., Gandola, L., Pecori, E.

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

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DIFFUSE INTRINSIC PONTINE GLIOMA (DIPG) von Zaghloul, M., Ahmed, S., Eldebaway, E., Mousa, A., Amin, A., Elkhateeb, N., Sabry, M., Ogiwara, H., Morota, N., Sufit, A., Donson, A., Birks, D., Patel, P., Foreman, N., Handler, M., Massimino, M., Biassoni, V., Gandola, L., Schiavello, E., Pecori, E., Potepan, P., Bach, F., Janssens, G. O., Jansen, M. H., Lauwers, S. J., Nowak, P. J., Oldenburger, F. R., Bouffet, E., Saran, F., van Ulzen, K. K., van Lindert, E. J., Schieving, J. H., Boterberg, T., Kaspers, G. J., Span, P. N., Kaanders, J. H., Gidding, C. E., Hargrave, D., Bailey, S., Howman, A., Pizer, B., Harris, D., Jones, D., Kearns, P., Picton, S., Wheatley, K., Gibson, M., Glaser, A., Connolly, D., Kawamura, A., Nagashima, T., Yamamoto, K., Sakata, J., Lober, R., Freret, M., Fisher, P., Edwards, M., Yeom, K., Monje, M., Jansen, M., Aliaga, E. S., Van Der Hoeven, E., Van Vuurden, D., Heymans, M., Gidding, C., De Bont, E., Reddingius, R., Peeters-Scholte, C., van Meeteren, A. S., Gooskens, R., Granzen, B., Paardekoper, G., Janssens, G., Noske, D., Barkhof, F., Vandertop, W. P., Kaspers, G., Saratsis, A., Yadavilli, S., Nazarian, J., Mitra, S., Mallick, S., Kim, J., Beachy, P., Nobre, L., Vasconcelos, F., Lima, F., Mattos, D., Kuiven, N., Lima, G., Silveira, J., Sevilha, M., Lima, M. A., Ferman, S., Leblond, P., Lansiaux, A., Rialland, X., Gentet, J.-C., Geoerger, B., Frappaz, D.

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

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EPIDEMIOLOGY von Khatua, S., Brown, R., Pearlman, M., Vats, T., Satge, D., Stiller, C., Rutkowski, S., von Bueren, A. O., Lacour, B., Sommelet, D., Nishi, M., Massimino, M., Garre, M.-L., Moreno, F., Hasle, H., Jakab, Z., Greenberg, M., von der Weid, N., Kuehni, C., Zurriaga, O., Vicente, M.-L., Peris-Bonet, R., Benesch, M., Vekemans, M., Sullivan, S., Rickert, C., Fisher, P. G., Von Behren, J., Nelson, D. O., Reynolds, P., Fukuoka, K., Yanagisawa, T., Suzuki, T., Koga, T., Wakiya, K., Adachi, J.-i., Mishima, K., Fujimaki, T., Matsutani, M., Nishikawa, R., Gidding, C., Schieving, J., Wesseling, P., Ligtenberg, M., Hoogerbrugge, N., Jongmans, M., Crosier, S., Nicholson, S. L., Robson, K., Jacques, T., Wharton, S., Bown, N., Michalski, A., Pizer, B., Clifford, S., Sanden, E., Visse, E., Siesjo, P., Darabi, A., Nousome, D., Lupo, P. J., Scheurer, M. E., Nulman, I., Barrera, M., Maxwell, C., Koren, G., Gorelyshev, S., Matuev, K., Lubnin, A., Laskov, M., Lemeneva, N., Mazerkina, N., Khuhlaeva, E., Muller, K., Bruns, F., Pietsch, T., Kortmann, R.-D., Krishnatry, R., Shirsat, N., Kunder, R., Epari, S., Gupta, T., Kurkure, P., Vora, T., Arora, B., Moiyadi, A., Jalali, R., Swieszkowska, E., Dembowska-Baginska, B., Drogosiewicz, M., Filipek, I., Perek-Polnik, M., Grajkowska, W., Perek, D., Johnston, D., Cyr, J., Strother, D., Lafay-Cousin, L., Fryer, C., Scheinemann, K.

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Increased tissue-type plasminogen activator antigen release is not accompanied by increased systemic fibrinolytic activity in severe neonatal respiratory distress syndrome von BRUS, F, OETOMO, S. B, SCHIEVING, J, GROOTHUIS, E, OKKEN, A, VAN OEVEREN, W

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies von Cheng, H.Y., Dharmadhikari, A.V., Varland, S., Ma, N., Domingo, D., Kleyner, R., Rope, A.F., Yoon, M., Stray-Pedersen, A., Posey, J.E., Crews, S.R., Eldomery, M.K., Akdemir, Z.C., Lewis, A.M., Sutton, V.R., Rosenfeld, J.A., Conboy, E., Agre, K., Xia, F., Walkiewicz, M., Longoni, M., High, F.A., Slegtenhorst, M.A. van, Mancini, G.M.S., Finnila, C.R., Haeringen, A. van, Hollander, N. den, Ruivenkamp, C., Naidu, S., Mahida, S., Palmer, E.E., Murray, L., Lim, D., Jayakar, P., Parker, M.J., Giusto, S., Stracuzzi, E., Romano, C., Beighley, J.S., Bernier, R.A., Kury, S., Nizon, M., Corbett, M.A., Shaw, M., Gardner, A., Barnett, C., Armstrong, R., Kassahn, K.S., Dijck, A. van, Vandeweyer, G., Kleefstra, T., Schieving, J., Jongmans, M.J., Vries, B.B.A. de, Pfundt, R., Kerr, B., Rojas, S.K., Boycott, K.M., Person, R., Willaert, R., Eichler, E.E., Kooy, R.F., Yang, Y.P., Wu, J.C., Lupski, J.R., Arnesen, T., Cooper, G.M., Chung, W.K., Gecz, J., Stessman, H.A.F., Meng, L.Y., Lyon, G.J.

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies von Cheng, H, Dharmadhikari, AV, Varland, S, Ma, N, Domingo, D, Kleyner, R, Rope, AF, Yoon, M, Stray-Pedersen, A, Posey, JE, Crews, SR, Eldomery, MK, Akdemir, ZC, Lewis, AM, Sutton, VR, Rosenfeld, JA, Conboy, E, Agre, K, Xia, F, Walkiewicz, M, Longoni, M, High, FA, van Slegtenhorst, MA, Mancini, GMS, Finnila, CR, van Haeringen, A, den Hollander, N, Ruivenkamp, C, Naidu, S, Mahida, S, Palmer, EE, Murray, L, Lim, D, Jayakar, P, Parker, MJ, Giusto, S, Stracuzzi, E, Romano, C, Beighley, JS, Bernier, RA, Küry, S, Nizon, M, Corbett, MA, Shaw, M, Gardner, A, Barnett, C, Armstrong, R, Kassahn, KS, Van Dijck, A, Vandeweyer, G, Kleefstra, T, Schieving, J, Jongmans, MJ, de Vries, BBA, Pfundt, R, Kerr, B, Rojas, SK, Boycott, KM, Person, R, Willaert, R, Eichler, EE, Kooy, RF, Yang, Y, Wu, JC, Lupski, JR, Arnesen, T, Cooper, GM, Chung, WK, Gecz, J, Stessman, HAF, Meng, L, Lyon, GJ, Palmer, Elizabeth

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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology von 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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