Spastin mutations in sporadic adult-onset upper motor neuron syndromes von 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 von 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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Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy von 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 von 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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Development of a Hypoallergenic Recombinant Parvalbumin for First-in-Man Subcutaneous Immunotherapy of Fish Allergy von Zuidmeer-Jongejan, Laurian, Huber, Hans, Swoboda, Ines, Rigby, Neil, Versteeg, Serge A., Jensen, Bettina M., Quaak, Suzanne, Akkerdaas, Jaap H., Blom, Lars, Asturias, Juan, Bindslev-Jensen, Carsten, Bernardi, Maria L., Clausen, Michael, Ferrara, Rosa, Hauer, Martina, Heyse, Jet, Kopp, Stephan, Kowalski, Marek L., Lewandowska-Polak, Anna, Linhart, Birgit, Maderegger, Bernhard, Maillere, Bernard, Mari, Adriano, Martinez, Alberto, Mills, E.N. Clare, Neubauer, Angela, Nicoletti, Claudio, Papadopoulos, Nikolaos G., Portoles, Antonio, Ranta-Panula, Ville, Santos-Magadan, Sara, Schnoor, Heidi J., Sigurdardottir, Sigurveig T., Stahl-Skov, Per, Stavroulakis, George, Stegfellner, Georg, Vázquez-Cortés, Sonia, Witten, Marianne, Stolz, Frank, Poulsen, Lars K., Fernandez-Rivas, Montserrat, Valenta, Rudolf, van Ree, Ronald

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The performance of genome sequencing as a first-tier test for neurodevelopmental disorders von 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 von 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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Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome von Kummeling, Joost, Stremmelaar, Diante E, Raun, Nicholas, Reijnders, Margot R F, Willemsen, Marjolein H, Ruiterkamp-Versteeg, Martina, Schepens, Marga, Man, Calvin C O, Gilissen, Christian, Cho, Megan T, McWalter, Kirsty, Sinnema, Margje, Wheless, James W, Simon, Marleen E H, Genetti, Casie A, Casey, Alicia M, Terhal, Paulien A, van der Smagt, Jasper J, van Gassen, Koen L I, Joset, Pascal, Bahr, Angela, Steindl, Katharina, Rauch, Anita, Keller, Elmar, Raas-Rothschild, Annick, Koolen, David A, Agrawal, Pankaj B, Hoffman, Trevor L, Powell-Hamilton, Nina N, Thiffault, Isabelle

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Molecular analyses in Indonesian individuals with intellectual disability and microcephaly von Mundhofir, Farmaditya EP, Tunjungputri, Rahajeng N, Nillesen, Willy M, Van Bon, Bregje WM, Ruiterkamp-Versteeg, Martina, Winarni, Tri I, Hamel, Ben CJ, Yntema, Helger G, Faradz, Sultana MH

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Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study von 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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Molecular analyses in Indonesian individuals with intellectual disability and microcephaly von EP Mundhofir, Farmaditya, N Tunjungputri, Rahajeng, M Nillesen, Willy, WM van Bon, Bregje, Ruiterkamp-Versteeg, Martina, I Winarni, Tri, CJ Hamel, Ben, G Yntema, Helger, MH Faradz, Sultana

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