Spastin mutations in sporadic adult-onset upper motor neuron syndromes by Brugman, Frans, Wokke, John H. J., Scheffer, Hans, Versteeg, Martina H. A., Sistermans, Erik A., van den Berg, Leonard H.

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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy by Kiewiet, Gea, Westra, Dineke, de Boer, Eddy N, van Berkel, Emma, Hofste, Tom G J, van Zweeden, Martine, Derks, Ronny C, Leijsten, Nico F A, Ruiterkamp-Versteeg, Martina H A, Charbon, Bart, Johansson, Lennart, Bos-Kruizinga, Janneke, Veenstra, Inge J, de Sain-van der Velden, Monique G M, Voorhoeve, Els, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan, Sikkema-Raddatz, Birgit, Nelen, Marcel

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BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy by van de Warrenburg, Bart P.C., Scheffer, Hans, van Eijk, Jeroen J.J., Versteeg, Martina H.A., Kremer, Hannie, Zwarts, Machiel J., Schelhaas, H. Jurgen, van Engelen, Baziel G.M.

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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders by van der Sanden, Bart P G H, Schobers, Gaby, Corominas Galbany, Jordi, Koolen, David A, Sinnema, Margje, van Reeuwijk, Jeroen, Stumpel, Connie T R M, Kleefstra, Tjitske, de Vries, Bert B A, Ruiterkamp-Versteeg, Martina, Leijsten, Nico, Kwint, Michael, Derks, Ronny, Swinkels, Hilde, den Ouden, Amber, Pfundt, Rolph, Rinne, Tuula, de Leeuw, Nicole, Stegmann, Alexander P, Stevens, Servi J, van den Wijngaard, Arthur, Brunner, Han G, Yntema, Helger G, Gilissen, Christian, Nelen, Marcel R, Vissers, Lisenka E L M

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Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings by Croonen, Ellen A, Nillesen, Willy M, Stuurman, Kyra E, Oudesluijs, Gretel, van de Laar, Ingrid M B M, Martens, Liesbeth, Ockeloen, Charlotte, Mathijssen, Inge B, Schepens, Marga, Ruiterkamp-Versteeg, Martina, Scheffer, Hans, Faas, Brigitte H W, van der Burgt, Ineke, Yntema, Helger G

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Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study by Mundhofir, Farmaditya, Nillesen, Willy, Van Bon, Bregje, Smeets, Dominique, Pfundt, Rolph, de Ven-Schobers, Gaby, Ruiterkamp-Versteeg, Martina, Winarni, Tri, Hamel, Ben, Yntema, Helger, Faradz, Sultana

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