Clinical significance of de novo and inherited copy-number variation. by Vulto-van Silfhout, A, Hehir-Kwa, J, van Bon, B, Schuurs-Hoeijmakers, J, Meader, S, Hellebrekers, C, Thoonen, I, de Brouwer, A, Brunner, H, Webber, C, Pfundt, R, de Leeuw, N, de Vries, B

Clinical Significance of De Novo and Inherited Copy-Number Variation by Vulto-van Silfhout, A, Hehir-Kwa, J, van Bon, B, Schuurs-Hoeijmakers, J, Meader, S, Hellebrekers, C, Thoonen, I, de Brouwer, A, Brunner, H, Webber, C, Pfundt, R, de Leeuw, N, De Vries, B

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications. by Wincent, J, Bruno, D, van Bon, B, Bremer, A, Stewart, H, Bongers, E, Ockeloen, C, Willemsen, M, Keays, D, Baird, G, Newbury, D, Kleefstra, T, Marcelis, C, Kini, U, Stark, Z, Savarirayan, R, Sheffield, L, Zuffardi, O, Slater, H, de Vries, B, Knight, S, Anderlid, B, Schoumans, J

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome by van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhe, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. by van Bon, B, Mefford, H, Menten, B, Koolen, D, Sharp, A, Nillesen, WM, Innis, J, de Ravel, T, Mercer, C, Fichera, M, Stewart, H, Connell, L, Ounap, K, Lachlan, K, Castle, B, Van der Aa, N, van Ravenswaaij, C, Nobrega, M, Serra-Juhé, C, Simonic, I, de Leeuw, N, Pfundt, R, Bongers, E, Baker, C, Finnemore, P

Mutations in MAST1 cause mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations by Tripathy, R, Leca, I, Van Dijk, T, Weiss, J, Van Bon, B, Sergaki, M, Gstrein, T, Breuss, M, Tian, G, Bahi-Buisson, N, Paciorkowski, A, Pagnamenta, A, Wenninger-Weinzierl, A, Martinez-Reza, M, Landler, L, Lise, S, Taylor, J, Terrone, G, Vitiello, G, Del Giudice, E, Brunetti-Pierri, N, D'Amico, A, Reymond, A, Voisin, N, Bernstein, J, Farrelly, E, Kini, U, Leonard, T, Valence, S, Burglen, L, Armstrong, L, Hiatt, S, Cooper, G, Aldinger, K, Dobyns, W, Mirzaa, G, Pierson, T, Baas, F, Chelly, J, Cowan, N, Keays, D