- Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MMAM, Mulder MF, Offerhaus GJA, Prescott TE, Schroor EJ, Verheij JBGM, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC, Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. NAT GENET 2009;41 (12):1272-1274 [PubMed]
- Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TEJ, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC, Mutations in ZBTB20 cause Primrose syndrome. NAT GENET 2014;46 (8):815-817 [PubMed]
- Hofman N, Tan HL, Alders M, Kolder I, de Haij S, Mannens MMAM, Lombardi MP, Lekanne Deprez RH, van Langen I, Wilde AAM, Yield of molecular and clinical testing for arrhythmia syndromes: report of 15 years' experience. CIRCULATION 2013;128 (14):1513-1521 [PubMed]
- Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MTE, Wiesfeld ACP, Alders M, Postma AV, van Langen I, Mannens MMAM, Wilde AAM, Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. CIRCULATION 2007;116 (14):1569-1576 [PubMed]
- Bliek J, Terhal P, van den Bogaard MJ, Maas S, Hamel B, Salieb-Beugelaar G, Simon M, Letteboer T, van der Smagt J, Kroes H, Mannens M, Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. AM J HUM GENET 2006;78 (4):604-614 [PubMed]
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).
Prof. dr. M.M.A.M. Mannens
Dr. M. Alders
Dr. H. Bikker
Dr. J. Bliek
Dr. P. Henneman
Dr. S. van Koningsbruggen
Dr. R.H. Lekanne dit Deprez
Dr. M.P. Lombardi
Dr. O.R.F. Mook
Dr. M.M. Motazacker PhD
Dr. A.V. Postma
Dr. E.J.W. Redeker
- board (R&D), University of Amsterdam
- Europese Unie
- Helmsley Charitable Trust
- Stichting AMC Foundation (Vrijgesteld)