Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability von Zhang, Feng, Seeman, Pavel, Liu, Pengfei, Weterman, Marian A.J., Gonzaga-Jauregui, Claudia, Towne, Charles F., Batish, Sat Dev, De Vriendt, Els, De Jonghe, Peter, Rautenstrauss, Bernd, Krause, Klaus-Henning, Khajavi, Mehrdad, Posadka, Jan, Vandenberghe, Antoon, Palau, Francesc, Van Maldergem, Lionel, Baas, Frank, Timmerman, Vincent, Lupski, James R.

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Early-onset gastric carcinomas display molecular characteristics distinct from gastric carcinomas occurring at a later age von Carvalho, Ralph, Milne, Anya NA, van Rees, Bastiaan P, Caspers, Eric, Cirnes, Luís, Figueiredo, Céu, Offerhaus, G Johan A, Weterman, Marian AJ

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A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy von Weterman, Marian A.J., Sorrentino, Vincenzo, Kasher, Paul R., Jakobs, Marja E., van Engelen, Baziel G.M., Fluiter, Kees, de Wissel, Marit B., Sizarov, Aleksander, Nürnberg, Gudrun, Nürnberg, Peter, Zelcer, Noam, Schelhaas, H. Jurgen, Baas, Frank

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Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance von Barth, Peter G., Majoie, Charles B., Caan, Matthan W.A., Weterman, Marian A.J., Kyllerman, Marten, Smit, Leo M.E., Kaplan, Richard A., Haas, Richard H., Baas, Frank, Cobben, Jan-Maarten, Poll-The, Bwee Tien

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Copy number variation upstream of PMP22 in Charcot–Marie–Tooth disease von Weterman, Marian AJ, van Ruissen, Fred, de Wissel, Marit, Bordewijk, Lou, Samijn, Johnny PA, van der Pol, W Ludo, Meggouh, Farid, Baas, Frank

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A novel region of amplification at 11p12-13 in gastric cancer, revealed by representational difference analysis, is associated with overexpression of CD44v6, especially in early-on... von Carvalho, Ralph, Milne, Anya N. A., Polak, Mirjam, Offerhaus, G. Johan A., Weterman, Marian A. J.

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