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M.A.J. Weterman PhD

Position
Scientific staff member (UD)
Main activities
Patient care, Research
Specialisation
Molecular Biology, Genetics
Focus of research

Previous research in the field of oncology focused on the identification of relevant changes in the origin and progression of melanoma, t(X;1)-positive papillary renal cell carcinomas, gastric carcinomas and Peutz-Jeghers syndrome and the characterization of these changes at a prognostic and functional level.
Current research is aimed at the identification of genes underlying pediatric neurological disorders and identification and functional characterization of Charcot-Marie-Tooth associated genes and genomic alterations.
 

Key publications
  • Weterman MAJ, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YEM, Backx AP, Nürnberg G, Nürnberg P, Baas F, Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy. BRAIN 2013;136 (1):282-293 [PubMed]
  • Weterman MA, van Ruissen F, de Wissel M, Bordewijk L, Samijn JP, van der Pol WL, Meggouh F, Baas F, Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease. EUR J HUM GENET 2010;18 (4):421-428 [PubMed]
  • Weterman MAJ, Sorrentino V, Kasher PR, Jakobs ME, van Engelen BGM, Fluiter K, de Wissel MB, Sizarov A, Nürnberg G, Nürnberg P, Zelcer N, Schelhaas HJ, Baas F, A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. HUM MOL GENET 2012;21 (2):358-370 [PubMed]
  • Zhang F, Seeman P, Liu P, Weterman MAJ, Gonzaga-Jauregui C, Towne CF, Batish SD, de Vriendt E, de Jonghe P, Rautenstrauss B, Krause KH, Khajavi M, Posadka J, Vandenberghe A, Palau F, van Maldergem L, Baas F, Timmerman V, Lupski JR, Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability. AM J HUM GENET 2010;86 (6):892-903 [PubMed]
  • Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MAJ, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinlin M, Voit T, Roelens F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RCM, Grillo E, Beemer FA, Stoets LME, Wollnik B, Nürnberg P, Baas F, tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. NAT GENET 2008;40 (9):1113-1118 [PubMed]
All Publications
Curriculum Vitae
  • 1988 Traineeship Johns Hopkins University Baltimore, USA
  • 1989 MSc Radboud University  Nijmegen
  • 1994 PhD  Depts Biochemistry and Pathology, Radboud University Hospital Nijmegen (Gene Expression in Human Cutaneous Melanoma)
  • 1994-2000 Postdoc  Dept. Human Genetics Radboud University Hospital Nijmegen (Dutch Cancer Society  research grants)
  • 2000 Visiting research fellow NIH, Bethesda, USA  (Dr. P. Meltzer)
  • 2000-2005 Scientific staff member Dept Pathology AMC
  • 2005-   Scientific staff member Dept. Neurogenetics
Research programmes

Prof. dr. F. Baas (Genome analysis / Neurogenetics)

Current research funding
  • Prinses Beatrix Spierfonds