Genotype-phenotype correlations in MYCN-related Feingold syndrome von Marcelis, Carlo L.M, Hol, Frans A, Graham, Gail E, Rieu, Paul N.M.A, Kellermayer, Richard, Meijer, Rowdy P.P, Lugtenberg, Dorien, Scheffer, Hans, van Bokhoven, Hans, Brunner, Han G, de Brouwer, Arjan P.M

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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies von Pennings, Maartje, Meijer, Rowdy P P, Gerrits, Monique, Janssen, Jannie, Pfundt, Rolph, de Leeuw, Nicole, Gilissen, Christian, Gardeitchik, Thatjana, Schouten, Meyke, Voermans, Nicol, van de Warrenburg, Bart, Kamsteeg, Erik-Jan

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Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield von van der Sanden, Bart P.G.H., Corominas, Jordi, de Groot, Michelle, Pennings, Maartje, Meijer, Rowdy P.P., Verbeek, Nienke, van de Warrenburg, Bart, Schouten, Meyke, Yntema, Helger G., Vissers, Lisenka E. L.M., Kamsteeg, Erik-Jan, Gilissen, Christian

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Design and Validation of a Conformation Sensitive Capillary Electrophoresis-Based Mutation Scanning System and Automated Data Analysis of the More than 15 kbp-Spanning Coding Seque... von Vermeer, Sascha, Meijer, Rowdy P.P, Hofste, Tom G.J, Bodmer, Daniëlle, Bosgoed, Ermanno A.J, Cremers, Frans P.M, Kremer, Berry H.P, Knoers, Nine V.A.M, Scheffer, Hans

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Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia von Vermeer, Sascha, Hoischen, Alexander, Meijer, Rowdy P.P., Gilissen, Christian, Neveling, Kornelia, Wieskamp, Nienke, de Brouwer, Arjan, Koenig, Michel, Anheim, Mathieu, Assoum, Mirna, Drouot, Nathalie, Todorovic, Slobodanka, Milic-Rasic, Vedrana, Lochmüller, Hanns, Stevanin, Giovanni, Goizet, Cyril, David, Albert, Durr, Alexandra, Brice, Alexis, Kremer, Berry, van de Warrenburg, Bart P.C., Schijvenaars, Mascha M.V.A.P., Heister, Angelien, Kwint, Michael, Arts, Peer, van der Wijst, Jenny, Veltman, Joris, Kamsteeg, Erik-Jan, Scheffer, Hans, Knoers, Nine

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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia von Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry

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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia von 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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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia von 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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