Genotype-phenotype correlations in MYCN-related Feingold syndrome
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
Published in Human mutation (01.09.2008)
Published in Human mutation (01.09.2008)
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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 Sequence of the SACS Gene
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
Published in The Journal of molecular diagnostics : JMD (01.11.2009)
Published in The Journal of molecular diagnostics : JMD (01.11.2009)
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Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies
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
Published in European journal of human genetics : EJHG (01.06.2023)
Published in European journal of human genetics : EJHG (01.06.2023)
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Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield
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
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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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
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
Published in American journal of human genetics (10.12.2010)
Published in American journal of human genetics (10.12.2010)
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KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
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
Published in European journal of human genetics : EJHG (01.01.2020)
Published in European journal of human genetics : EJHG (01.01.2020)
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ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia
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
Published in Neurogenetics (01.07.2008)
Published in Neurogenetics (01.07.2008)
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