- Alders Marielle, Hogan Benjamin M., Gjini Evisa, Salehi Faranak, Al-Gazali Lihadh, Hennekam Eric A., Holmberg Eva E., Mannens Marcel M. A. M., Mulder Margot F., Offerhaus G. Johan A., Prescott Trine E., Schroor Eelco J., Verheij Joke B. G. M., Witte Merlijn, Zwijnenburg Petra J., Vikkula Mikka, Schulte-Merker Stefan, Hennekam Raoul C. Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans Nature genetics 2009;41 (12):1272-1274 [PubMed]
- Cordeddu Viviana, Redeker Bert, Stellacci Emilia, Jongejan Aldo, Fragale Alessandra, Bradley Ted E. J., Anselmi Massimiliano, Ciolfi Andrea, Cecchetti Serena, Muto Valentina, Bernardini Laura, Azage Meron, Carvalho Daniel R., Espay Alberto J., Male Alison, Molin Anna-Maja, Posmyk Renata, Battisti Carla, Casertano Alberto, Melis Daniela, van Kampen Antoine, Baas Frank, Mannens Marcel M., Bocchinfuso Gianfranco, Stella Lorenzo, Tartaglia Marco, Hennekam Raoul C. Mutations in ZBTB20 cause Primrose syndrome Nature genetics 2014;46 (8):815-817 [PubMed]
- Hofman Nynke, Tan Hanno L., Alders Mariëlle, Kolder Iris, de Haij Simone, Mannens Marcel M. A. M., Lombardi Maria Paola, Lekanne Deprez Ronald H., van Langen Irene, Wilde Arthur A. M. Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience Circulation 2013;128 (14):1513-1521 [PubMed]
- Bhuiyan Zahurul A., van den Berg Maarten P., van Tintelen J. Peter, Bink-Boelkens Margreet T. E., Wiesfeld Ans C. P., Alders Marielle, Postma Alex V., van Langen Irene, Mannens Marcel M. A. M., Wilde Arthur A. M. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features Circulation 2007;116 (14):1569-1576 [PubMed]
- Bliek Jet, Terhal Paulien, van den Bogaard Marie-José, Maas Saskia, Hamel Ben, Salieb-Beugelaar Georgette, Simon Marleen, Letteboer Tom, van der Smagt Jasper, Kroes Hester, Mannens Marcel Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype American journal of human genetics 2006;78 (4):604-614 [PubMed]
Prof. PhD M.M.A.M. Mannens (Genome diagnostics i.p. epigenetics of disease)
In general, clinical molecular DNA-diagnostics leads to a broad field of research interest since many different human disorders are studied at the molecular level. Often, interesting scientific observations are made leading to new disease loci/genes or improved diagnostics/patient care.
Basic and Clinically applied research of the laboratory has been focused on the genetic aetiology of the Beckwith-Wiedemann syndrome and associated childhood tumours; genomic imprinting; cardiac arrhythmia's and conduction defects and congenital heart defects. Innovation of DNA-diagnostics is an ongoing field of research, in particular the use of micro-arrays for genome diagnostics, for epigenetics and the introduction of massive parallel sequencing technology.
The nature of genomic imprinting and its consequences for human health will be further investigated, including biochemical analysis of the interaction of the various genes involved. Other human growth malformation syndromes are being included in the analysis, such as Silver Russell syndrome, Perlman syndrome, Sotos syndrome and Klippel Trenaunay Weber syndrome. From 2014 on, we are studying epigenetic regulation of genes in various clinical conditions, including trauma, child abuse and neglect and foetal alcohol syndrome. Cardiogenetics is a successful field of research in the AMC. We will continue to search for new genes and to identify the role of various genes in the development of cardiac disorders. In addition we will analyze patient cohorts in order to improve the DNA-diagnostics for this important group of patients.
Themes: Cardiovascular Diseases and Reproduction and Development (board member).
PhD M. Alders
PhD H. Bikker
PhD H.J. Bliek
PhD P. Henneman
PhD R.H. Lekanne Dit Deprez
PhD M.P.R. Lombardi
PhD O.R.F. Mook
PhD M.M. Motazacker
PhD A.V. Postma
PhD E.J.W. Redeker
PhD S. van Koningsbruggen
- Europese Unie
- Helmsley Charitable Trust